@article {pmid41986721,
year = {2026},
author = {Akbari, A and Perry, A and Barton, AR and Kariminejad, M and Gazal, S and Li, Z and Zeng, Y and Mittnik, A and Patterson, N and Mah, M and Zhou, X and Price, AL and Lander, ES and Pinhasi, R and Rohland, N and Mallick, S and Reich, D},
title = {Ancient DNA reveals pervasive directional selection across West Eurasia.},
journal = {Nature},
volume = {654},
number = {8118},
pages = {419-428},
pmid = {41986721},
issn = {1476-4687},
support = {/HHMI/Howard Hughes Medical Institute/United States ; },
mesh = {Humans ; Alleles ; Asia/ethnology ; *DNA, Ancient/analysis ; Europe/ethnology ; Evolution, Molecular ; Gene Frequency ; History, Ancient ; Phenotype ; *Selection, Genetic ; },
abstract = {Ancient DNA has transformed our understanding of population history[1], but its potential to reveal as much about human evolutionary biology has not been realized because of limited sample sizes and the difficulty of distinguishing sustained rises in allele frequency increasing fitness-directional selection-from shifts due to migrations, population structure, or non-adaptive purifying or stabilizing selection[2-7]. Here we present a method for detecting directional selection in ancient DNA time-series data that tests for consistent trends in allele frequency change over time, and apply it to 15,836 West Eurasians (10,016 with new data). Previous work has shown that classic hard sweeps driving advantageous mutations to fixation have been rare over the broad span of human evolution[8,9]. By contrast, in the past ten millennia, we find that many hundreds of alleles have been affected by strong directional selection. We also document one-standard-deviation changes on the scale of modern variation in combinations of alleles that today predict complex traits. This includes decreases in predicted body fat and schizophrenia, and increases in measures of cognitive performance. These effects were measured in industrialized societies, and it remains unclear how these relate to phenotypes that were adaptive in the past. We estimate selection coefficients at 9.7 million variants, enabling study of how Darwinian forces couple to allelic effects and shape the genetic architecture of complex traits.},
}

Humans
Alleles
Asia/ethnology
*DNA, Ancient/analysis
Europe/ethnology
Evolution, Molecular
Gene Frequency
History, Ancient
Phenotype
*Selection, Genetic

@article {pmid333914,
year = {1977},
author = {Engel, E},
title = {One hundred years of cytogenetic studies in health and disease.},
journal = {American journal of mental deficiency},
volume = {82},
number = {2},
pages = {109-116},
pmid = {333914},
issn = {0002-9351},
mesh = {Amniocentesis ; Chromosome Aberrations/diagnosis/*genetics ; Chromosome Disorders ; Chromosome Mapping ; *Cytogenetics ; Female ; Genes ; Genetics, Medical ; History, 18th Century ; History, 20th Century ; Humans ; Karyotyping ; Leukemia/*genetics ; Male ; X Chromosome ; Y Chromosome ; },
abstract = {Cytologic observations have greatly contributed to our understanding of the modes of transmission, expression, and action of genetic determinants in tissues and organisms. While the elucidation of chromosome migration and distribution during gametogenesis (i.e., the segregation and independent assortment of chromosomes in the germ cells) provided a physical basis and a mechanism for the implementation of Mendelian principles, cytogenetics did not illuminate our practical knowledge of human biology until it was applied to eukaryotic somatic cells with ease, speed, and accuracy. As a result of these achievements of the late 1950s, the study of the chromosome complement is now routinely available. Karyotypic analysis established that genetic imbalances such as trisomies and deletions account for one-fifth or more of all spontaneous abortions and for one-fifth of all serious but viable birth defects, most of them with impaired mental development. Most chromosome errors are the result of a gametal or zygotic mishap and can be detected by fetal cell sampling through amniocentesis. In recent years more refined techniques (chromosome banding methods) have further increased the level of resolution at which anomalies can be detected. These techniques, along with the development of methods to hybridize somatic cells, have greatly assisted in the assignment of particular genes to particular chromosomes.},
}

Amniocentesis
Chromosome Aberrations/diagnosis/*genetics
Chromosome Disorders
Chromosome Mapping
*Cytogenetics
Female
Genes
Genetics, Medical
History, 18th Century
History, 20th Century
Humans
Karyotyping
Leukemia/*genetics
Male
X Chromosome
Y Chromosome

@article {pmid340503,
year = {1977},
author = {Bell, AE},
title = {Heritability in retrospect.},
journal = {The Journal of heredity},
volume = {68},
number = {5},
pages = {297-300},
doi = {10.1093/oxfordjournals.jhered.a108840},
pmid = {340503},
issn = {0022-1503},
mesh = {Animals ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; *Terminology as Topic ; },
abstract = {The origin of the word heritability remains unknown. Its usage has evolved through three stages, becoming more restrictive in its meaning along the way. In the initial stage, 1832 and possibly earlier, heritability was used to denote the hereditary transmission of characteristics or material things, simply having the capability (legally or biologically) of being inherited. The second stage, beginning around the turn of this century, followed Johannsen's classical definition of nongenetic or environmental fluctuations distinct from genotypic differences, and usage closely approximated "broad sense heritability" and Johannsen's Erblichkeit. Finally, in 1936, we come to the modern day usage of narrow sense heritability, the ratio of additive genetic variance to the total phenotypic variance within a population, and credit Dr. J.L. Lush with its origin.},
}

Animals
Genetics/*history
History, 19th Century
History, 20th Century
Humans
*Terminology as Topic

@article {pmid342533,
year = {1978},
author = {Horan, FT and Beighton, PH},
title = {"Osteopetrosis" in the Fairbank Collection.},
journal = {The Journal of bone and joint surgery. British volume},
volume = {60},
number = {1},
pages = {53-55},
doi = {10.1302/0301-620X.60B1.342533},
pmid = {342533},
issn = {0301-620X},
mesh = {Adolescent ; Adult ; Body Height ; Child ; Child, Preschool ; Facial Bones/diagnostic imaging ; Female ; Follow-Up Studies ; Genes, Dominant ; History of Medicine ; History, Ancient ; Humans ; Infant ; London ; Male ; *Museums ; Osteopetrosis/complications/diagnostic imaging/genetics/*history ; Radiography ; Skull/diagnostic imaging ; },
abstract = {The "osteopetrosis" section of the Fairbank Collection in the Radiology Museum of the Royal National Orthopaedic Hospital contains radiographs and case notes of twenty-two patients. This material has been reviewed in terms of modern concepts in an attempt to obtain a long-term follow-up and a firm diagnosis in each individual. Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, craniometaphyseal dysplasia was present in two kindreds and isolated individuals had pyknodysostosis, atypical craniodiaphyseal dysplasia and craniosclerosis with osteopathia striata. As these conditions differ greatly in their clinical and genetic prognoses, diagnostic categorisation is of practical importance.},
}

Adolescent
Adult
Body Height
Child
Child, Preschool
Facial Bones/diagnostic imaging
Female
Follow-Up Studies
Genes, Dominant
History of Medicine
History, Ancient
Humans
Infant
London
Male
*Museums
Osteopetrosis/complications/diagnostic imaging/genetics/*history
Radiography
Skull/diagnostic imaging

@article {pmid345812,
year = {1978},
author = {Longo, LD},
title = {Classic pages in obstetrics and gynecology. The chromosome number in man. Joe Hin Tjio and Albert Levan. Hereditas, vol. 42, pp. 1-6, 1956.},
journal = {American journal of obstetrics and gynecology},
volume = {130},
number = {6},
pages = {722},
pmid = {345812},
issn = {0002-9378},
mesh = {*Chromosomes, Human ; Genetics/*history ; History, 20th Century ; Humans ; },
}

*Chromosomes, Human
Genetics/*history
History, 20th Century
Humans

@article {pmid397657,
year = {1979},
author = {Mishima, S and Masuda, K and Izawa, Y and Mochizuki, M and Namba, K},
title = {The eighth Frederick H. Verhoeff Lecture. presented by saiichi mishima, MD Behçet's disease in Japan: ophthalmologic aspects.},
journal = {Transactions of the American Ophthalmological Society},
volume = {77},
number = {},
pages = {225-279},
pmid = {397657},
issn = {0065-9533},
mesh = {Adolescent ; Adult ; Aged ; Behcet Syndrome/*diagnosis/epidemiology/history ; Child ; Child, Preschool ; Colchicine/therapeutic use ; Cyclophosphamide/therapeutic use ; Europe ; Eye/pathology ; Eye Diseases/complications ; Female ; Fluorescein Angiography ; History, 20th Century ; Humans ; Immunity ; Japan ; Male ; Middle Aged ; Uveitis/complications/*diagnosis/therapy ; },
abstract = {The problems of Behçet's disease in Japan have been reviewed with particular emphasis on the ophthalmologic aspects: the historical background for the Japanese works, diagnostic critieria, epidemiology, some statistics, ocular symptomatology, ocular histopathology, etiology, pathophysiology, and treatment. Behçet's disease is the most frequent entity in endogenous uveitis in Japan. Patients are found throughout the country, and the prevalence rate averages seven to eight per 100,000 population: the rate is higher in the northern than in the southern districts. The diagnosis is made on the basis of a combination of clinical symptoms that are divided into the major and minor criteria symptoms. The major criteria comprise the ocular involvement, aphthous ulcers of the oral mucous membrane, genital ulcers, and skin lesions. These symptoms recur often as attacks and the disease follows a chronic course. The ocular involvement is found in 83% to 95% in males and 67% to 73% in females; the male to female ratio in the number of patients is 1.78. Both into the anterior segment type and the fundus and panophthalmic types. The anterior segment type shows serous iridocyclitis with the classic type of hypopyon appearing in about 12% of the attacks. This type is found in about 20%, more often in females than in males, and the visual prognosis is more favorable than in the fundus and panophthalmic types. In the latter two types, attacks of retinal angitis resulting in intensive retinal edema, yellowish-white exudate, and hemorrhages recur particularly in the macular region, and the visual prognosis is poor. More than 50% of male patients lose visual acuity to less than 0.1 in five years, but this is the case in only 10% of female patients. Consequently, Behçet's disease is the cause of blindness in about 12% of acquired blindness in adults. The ocular histopathology during the attack is characterized by severe angitis with intensive infiltration of neutrophil leucocytes largely in the uveal tract and the retina; the latter is severely affected and loss of visual cells and other neural elements results. The etiology of this disease still remains unknown but genetic predisposition is suggested since this disease is strongly linked with HL-A-B5. Environmental factors are also considered. Various abnormalities are found in the blood chemistry, blood cells (particularly in neutrophil leucocytes), immunologic mechanism, fibrinolytic and blood clotting system, and hormonal system. Chemotractic factors are found in the aqueous humor. These changes are particulary enhanced just before and during the ocular attacks. Systemic corticosteroids are deleterious to the visual prognosis, but cyclophosphamide and colchicine appear to suppress attacks and help patients maintain the visual acuity. However, these drugs are toxic, particulary to the reproductive organs, and the patients must be informed of this side effect and be allowed to make a decision before they are used.},
}

Adolescent
Adult
Aged
Behcet Syndrome/*diagnosis/epidemiology/history
Child
Child, Preschool
Colchicine/therapeutic use
Cyclophosphamide/therapeutic use
Europe
Eye/pathology
Eye Diseases/complications
Female
Fluorescein Angiography
History, 20th Century
Humans
Immunity
Japan
Male
Middle Aged
Uveitis/complications/*diagnosis/therapy

@article {pmid570956,
year = {1979},
author = {Vogel, F and Schalt, E and Krüger, J and Propping, P and Lehnert, KF},
title = {The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. I. Rationale of the study. Material. Methods. Heritability of test parameters.},
journal = {Human genetics},
volume = {47},
number = {1},
pages = {1-45},
pmid = {570956},
issn = {0340-6717},
mesh = {Adult ; *Electroencephalography ; England ; Female ; Genetic Variation ; *Genetics, Behavioral/history ; Genetics, Medical ; Germany, West ; History, 19th Century ; History, 20th Century ; Humans ; Intelligence ; Male ; Mathematics ; Personality Assessment ; Pregnancy ; *Psychological Tests ; *Research Design ; Twins ; United States ; },
abstract = {In the first section of this paper, various research designs in human behavior genetics are compared. In this context, the commonly used concept of biometric genetics is critically evaluated from the point of view of science theory. It is contrasted with the Mendelian gene concept, which, in principle, leads to a much deeper theoretical understanding by offering clues for basic mechanisms. To explore this advantage fully, a research strategy is needed that first looks for genetic variability in a physiological parameter of possible importance for human behavior and then tries to explore the influence of this parameter on the function of the human brain and on behavior. If possible, this genetic parameter should be selected in a way that inferences as to the mechanism of its influence on behavior become feasible. Such genetic variability is provided by the hereditary variants of the normal EEG discovered by earlier work (cf. Vogel, 1970). In the following section, a research program on 298 adult healthy males, most of them soldiers, with various inherited EEG variants is described. Apart from controls with inconspicuous EEGs, this material comprises probands with the following EEG variants: low-voltage (N); low-voltage borderline (NG); monotonous alpha-waves (R); occipital fast alpha-variants (BO); fronto-precentral beta-groups (BG), and diffuse beta-waves (BD). In addition to an EEG examination, the probands were examined with various test methods measuring intelligence (IST; LPS; Raven); working speed and concentration (d-2; KLT); personal attitudes (MMPI; 16PF; RKS); and sensory and motor abilities (flicker fusion; tachistoscopy; reaction time to optic, acoustic and combined stimuli; two-hand dexterity; pursuit rotor; tapping). In a supplementary twin study on 52 male adult twin pairs (26 MZ, 26 DZ), heritabilities were determined for the test scores included in the main study. For most test scores, heritabilities are relatively low; the data are compared with those from the literature. We conclude that the test methods utilized in the main study (on EEG variants) are expected to demonstrate at the most a small to moderate correlation of the EEGs with psychological phenotypes as defined by test examinations, even if a major part of the genetic variability underlying these phenotypes would be due to differences in brain physiology that could be revealed by EEG variation.},
}

Adult
*Electroencephalography
England
Female
Genetic Variation
*Genetics, Behavioral/history
Genetics, Medical
Germany, West
History, 19th Century
History, 20th Century
Humans
Intelligence
Male
Mathematics
Personality Assessment
Pregnancy
*Psychological Tests
*Research Design
Twins
United States

@article {pmid766603,
year = {1976},
author = {Ratnoff, OD and Jones, PK},
title = {The detection of carriers of classic hemophilia. H. P. Smith Memorial Lecture.},
journal = {American journal of clinical pathology},
volume = {65},
number = {2},
pages = {129-135},
doi = {10.1093/ajcp/65.2.129},
pmid = {766603},
issn = {0002-9173},
mesh = {Antigens ; Factor VIII/metabolism ; Female ; Genetic Counseling ; Hemophilia A/diagnosis/*genetics/history/immunology ; History, 19th Century ; History, Ancient ; Humans ; Male ; Pregnancy ; Sex Chromosomes ; United States ; },
abstract = {The authors summarize their experience with detection of the carrier state in classic hemophilia. Their test depends upon the observation that the plasma of patients with classic hemophilia, deficient in functional antihemophilic factor, contains normal amounts of precipitating antigenic material. By inference, the plasma of carriers should be relatively deficient in functional antihemophilic factor, but should contain normal amounts of antihemophilic factor-like antigenic material. Data obtained from 81 obligate carriers suggest that at least 90% of these women can be identified as carriers in the laboratory by demonstrating that there is an excess of antihemophilic factor-like antigenic material in plasma relative to functional antihemophilic factor. Further, at least two-thirds of mothers of individuals with isolated cases of hemophilia are carriers, suggesting that mutation is a relatively rare cause of hemophilia. Only about one-third of daughters of carriers who had no sons can be identified as carriers, a result due to the systematic exclusion of those daughters who had already had a hemophilic son.},
}

Antigens
Factor VIII/metabolism
Female
Genetic Counseling
Hemophilia A/diagnosis/*genetics/history/immunology
History, 19th Century
History, Ancient
Humans
Male
Pregnancy
Sex Chromosomes
United States

@article {pmid770035,
year = {1976},
author = {Morquio, L},
title = {The classics: On a form of familial osseous dystrophy. Bull. Soc. Pediat. 27:145, 1929.},
journal = {Clinical orthopaedics and related research},
volume = {},
number = {114},
pages = {10-11},
pmid = {770035},
issn = {0009-921X},
mesh = {Adolescent ; Child ; Female ; History, 20th Century ; Humans ; Male ; Osteochondrodysplasias/genetics/*history ; },
}

Adolescent
Child
Female
History, 20th Century
Humans
Male
Osteochondrodysplasias/genetics/*history

@article {pmid977272,
year = {1976},
author = {Isely, DC},
title = {The control and propagation of a genetic disease.},
journal = {ISA transactions},
volume = {15},
number = {2},
pages = {115-121},
pmid = {977272},
issn = {0019-0578},
mesh = {*Eugenics ; Gene Frequency ; Genes ; Genetic Diseases, Inborn/genetics/*prevention & control ; Genotype ; Humans ; Models, Biological ; Mutation ; },
abstract = {Preventive health is an appealing method to better our quality of life. However, in the practice of preventive health, its probabilistic nature and the time lag for results lessen its appeal. The specter of genetic diseases also has a probabilistic nature but has a time lag that spans generations. Thus any preventive health effort for genetic diseases should be studied so the results can be predicted in advance. A number of mathematical genetic problems have been solved that include mutation and phenotype selection factors. This paper takes a large human population that has birth and death frequencies that vary with age and that operates under Mendelian genetics. Hypothetical mutation and backmutation rates are put into this population; this results in an adverse effect on the death rate for those individuals born with homogenously mutated genes. This is called a genetic defect. The mutated genes are carried in the gametes of individuals who are born with the genetic defect and those who are exposed to the mutation rates; their manifestation is an increased probability of producing method gametes for reproduction. The preventive health control effort is birth control after genetic counseling. Various combinations of birth control selection effectiveness are tried on the different genotypes. It is found that a high selection factor for homogenously mutated genotypes gives the best result for reducing excess deaths caused by the genetic defect, and that a selection factor for heterozygous genotypes is a counterproductive effort. This model, employing a set of difference equations, may be used to evaluate preventive health policies on the control of genetically linked diseases such as sickle cell anemia, which affect the death rate of afflicted individuals. Also, effects other than death rate may be incorporated to evaluate policies on genetic diseases such as retinal blastoma.},
}

*Eugenics
Gene Frequency
Genes
Genetic Diseases, Inborn/genetics/*prevention & control
Genotype
Humans
Models, Biological
Mutation

@article {pmid1582573,
year = {1992},
author = {Dubinin, NP},
title = {[A.S. Serebrovskiĭ's experimental studies on induced mutagenesis].},
journal = {Genetika},
volume = {28},
number = {1},
pages = {38-51},
pmid = {1582573},
issn = {0016-6758},
mesh = {Animals ; Genetics/*history ; History, 20th Century ; *Mutagenesis ; USSR ; },
abstract = {The paper is devoted to A.S. Serebrovskiĭ's studies on induced mutagenesis. His first publication on X-ray induction of mutations in Drosophila appeared in 1928; this became a classical work and entered the golden fund of modern radiation genetics. Investigations of the scientists in the A.S. Serebrovskiĭ's laboratory as will as his own works on the analysis of radiation mutations at the achaete-scute complex have led to the development of the teaching about gene subdivision and made it possible to draw up a linear array of a gene from elementary subgenes, which have laid down the foundations of the modern molecular-genetic theory of gene.},
}

Animals
Genetics/*history
History, 20th Century
*Mutagenesis
USSR

@article {pmid1609797,
year = {1992},
author = {Lyonnet, S and Melle, D and de Braekeleer, M and Laframboise, R and Rey, F and John, SW and Berthelon, M and Berthelot, J and Journel, H and Le Marec, B},
title = {Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.},
journal = {American journal of human genetics},
volume = {51},
number = {1},
pages = {191-196},
pmid = {1609797},
issn = {0002-9297},
mesh = {Base Sequence ; France ; Genealogy and Heraldry ; Haplotypes ; Humans ; Molecular Sequence Data ; Mutation ; Phenylketonurias/*genetics ; Polymerase Chain Reaction ; Quebec ; Space-Time Clustering ; },
abstract = {We performed mutation analysis and RFLP haplotype analysis of chromosomes associated with classical phenylketonuria (PKU) in contemporary French families. We also did genealogical reconstructions for seven obligate carriers in five contemporary French-Canadian families living in eastern Quebec, who carry the M1V mutation causing PKU. The M1V mutation, heretofore considered to be associated exclusively with French-Canadians, was found on 4 of 152 independent French chromosomes. The French and Quebec M1V mutations all occurred on RFLP haplotype 2. The contemporary mutant French chromosomes clustered in southern Brittany (Finistère Sud). Genealogical reconstructions of the Quebec families identified 53 shared ancestors and a center of diffusion in the Perche region in 17th century France. The two clusters in France, one historical and the other contemporary, are not incompatible, if one assumes the possibilities that settlers returned from Nouvelle France or moved from Perche to southern Brittany. The M1V mutation is serving as a useful marker for historical demography.},
}

Base Sequence
France
Genealogy and Heraldry
Haplotypes
Humans
Molecular Sequence Data
Mutation
Phenylketonurias/*genetics
Polymerase Chain Reaction
Quebec
Space-Time Clustering

@article {pmid1622110,
year = {1992},
author = {Pellerin, D},
title = {[Hirschsprung disease].},
journal = {Annales de gastroenterologie et d'hepatologie},
volume = {28},
number = {2},
pages = {99-103},
pmid = {1622110},
issn = {0066-2070},
mesh = {*Hirschsprung Disease/diagnosis/history/therapy ; History, 20th Century ; Humans ; },
abstract = {From fourty years new knowledges about Hirschsprung's disease have dramatically transformed classical concepts of congenital megacolon. The author emphasizes successive steps of knowledges from his personal experience of 500 patients observed at Pediatric Surgical Department, Hôpital des Enfants Malades, Paris, and his own contribution at several research programs on this topic. They concern Radiology, Manometry, Histochimy, Immunocytochimy. Using technics of molecular biology, recent progress in knowledge of neural crest cells migration towards myenteric plexus, light etiopathogenesis of the disease. Several pathological associations suggest the genetic origin of the neuro transducers defect. Whatever be the scientific interest of it, clinical lethal risk of early enterocolitis remains a daily evidence. Simple routine precocious deflation of colonic hyperpression is still the most important message to be stressed.},
}

*Hirschsprung Disease/diagnosis/history/therapy
History, 20th Century
Humans

@article {pmid1757645,
year = {1991},
author = {Van Vleck, LD},
title = {C. R. Henderson: farm boy, athlete, and scientist.},
journal = {Journal of dairy science},
volume = {74},
number = {11},
pages = {4082-4096},
doi = {10.3168/jds.S0022-0302(91)78603-7},
pmid = {1757645},
issn = {0022-0302},
mesh = {Breeding/history ; History, 20th Century ; Iowa ; New York ; Statistics as Topic/history ; },
abstract = {Charles R. Henderson was proud to be a product of a farm in Page County, Iowa. He was a one man track team in Coin, Iowa, and a brilliant student. He became a world class competitor in track at Iowa State College and, at the same time, compiled a top academic record. His early experiences set the stage for the exceptional contributions of his animal breeding career, which did not begin until he was nearly 40 yr of age, but which spanned 40 yr when he was the acknowledged leader in development of statistical methodology applied to animal breeding. His career goals were to find the best possible ways to analyze data and to provide the best genetic evaluations to the livestock industry. If the best could not be done because of computational limitations, then he would pragmatically work to find the best way that was possible. Only his interest in Cornell hockey overshadowed his enjoyment in listening to classical music. He was an avid sports fan, especially for the St. Louis Cardinals or any midwestern team against the New York Yankees. Midwestern trips during the weeks when the Drake Relays were held were as often as possible. Henderson's acknowledged scientific hero was Jay L. Lush, with whom he studied during his Ph.D. program at Iowa State College and with whom he shared similar talents and the intuition that made both of them leaders in the field of animal breeding.},
}

Breeding/history
History, 20th Century
Iowa
New York
Statistics as Topic/history

@article {pmid1809495,
year = {1991},
author = {Pellerin, D},
title = {[Hirschsprung disease].},
journal = {Bulletin de l'Academie nationale de medecine},
volume = {175},
number = {8},
pages = {1239-48; discussion 1249-50},
pmid = {1809495},
issn = {0001-4079},
mesh = {Hirschsprung Disease/*history ; History, 20th Century ; Humans ; },
abstract = {From forty years new knowledges about Hirschsprung's disease have dramatically transformed classical concepts of congenital megacolon. The author emphasizes successive steps of knowledges fron his personal experience of 500 patients observed at Pediatric Surgical Department, Hôpital des Enfants Malades, Paris, and own contribution at several research programs on this topic. They concern Radiology, Manometry, Histochemistry, Immunocytochemistry. Using technics of molecular biology, recent progress in knowledge of neural crest cells migration towards myenteric plexus, light etiopathogenesis of the disease. Several pathological associations suggest the genetic origin of the neuro transducers defect. Whatever be the scientific interest of it, clinical lethal risk of early enterocolitis remains a daily evidence. Simple routine precocious deflation of colonic hyperpression is still the most important message to be stressed.},
}

Hirschsprung Disease/*history
History, 20th Century
Humans

@article {pmid1851532,
year = {1991},
author = {Scriver, CR and Tenenhouse, HS and Glorieux, FH},
title = {X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958.},
journal = {Medicine},
volume = {70},
number = {3},
pages = {218-228},
pmid = {1851532},
issn = {0025-7974},
mesh = {Animals ; History, 20th Century ; Humans ; Hypophosphatemia, Familial/*genetics/history ; },
}

Animals
History, 20th Century
Humans
Hypophosphatemia, Familial/*genetics/history

@article {pmid1912244,
year = {1991},
author = {Georgiev, GP},
title = {Recognition of classical genetics by the Kremlin.},
journal = {Biomedical science},
volume = {2},
number = {1},
pages = {108},
pmid = {1912244},
issn = {0955-9701},
mesh = {Awards and Prizes ; Genetics/*history ; History, 20th Century ; USSR ; },
}

Awards and Prizes
Genetics/*history
History, 20th Century
USSR

@article {pmid2062434,
year = {1991},
author = {Suvorov, NF and Andreeva, VN},
title = {Problems of the inheritance of conditioned reflexes in Pavlov's school.},
journal = {Neuroscience and behavioral physiology},
volume = {21},
number = {1},
pages = {8-16},
pmid = {2062434},
issn = {0097-0549},
mesh = {Animals ; Conditioning, Classical/*physiology ; Dogs ; Genetics, Behavioral/*history ; History, 20th Century ; USSR ; },
}

Animals
Conditioning, Classical/*physiology
Dogs
Genetics, Behavioral/*history
History, 20th Century
USSR

@article {pmid2162605,
year = {1990},
author = {Suvorov, NF and Andreeva, VN},
title = {[The problems of the inheritance of conditioned reflexes in the school of I. P. Pavlov].},
journal = {Zhurnal vysshei nervnoi deiatelnosti imeni I P Pavlova},
volume = {40},
number = {1},
pages = {3-14},
pmid = {2162605},
issn = {0044-4677},
mesh = {Animals ; Conditioning, Classical/*physiology ; Genetics/*history ; Higher Nervous Activity/genetics ; History, 20th Century ; Research/history ; USSR ; },
}

Animals
Conditioning, Classical/*physiology
Genetics/*history
Higher Nervous Activity/genetics
History, 20th Century
Research/history
USSR

@article {pmid2185860,
year = {1990},
author = {Wright, S},
title = {Evolution in Mendelian populations. 1931.},
journal = {Bulletin of mathematical biology},
volume = {52},
number = {1-2},
pages = {241-95; discussion 201-7},
pmid = {2185860},
issn = {0092-8240},
mesh = {*Biological Evolution ; Gene Frequency ; *Genetics, Population ; History, 20th Century ; Mathematics ; *Models, Genetic ; },
}

*Biological Evolution
Gene Frequency
*Genetics, Population
History, 20th Century
Mathematics
*Models, Genetic

@article {pmid2581282,
year = {1985},
author = {Ford, CV and Folks, DG},
title = {Conversion disorders: an overview.},
journal = {Psychosomatics},
volume = {26},
number = {5},
pages = {371-4, 380-3},
doi = {10.1016/S0033-3182(85)72845-9},
pmid = {2581282},
issn = {0033-3182},
mesh = {Adolescent ; Adult ; Aged ; Cerebral Cortex/physiopathology ; Child ; Communication ; Conditioning, Classical ; Conflict, Psychological ; Conversion Disorder/*diagnosis/etiology/therapy ; Female ; Functional Laterality ; Humans ; Male ; Middle Aged ; Neurocognitive Disorders/complications ; Prognosis ; Psychological Theory ; Sick Role ; Somatoform Disorders/diagnosis/genetics ; Stress, Psychological/complications ; Suggestion ; Symbolism ; },
}

Adolescent
Adult
Aged
Cerebral Cortex/physiopathology
Child
Communication
Conditioning, Classical
Conflict, Psychological
Conversion Disorder/*diagnosis/etiology/therapy
Female
Functional Laterality
Humans
Male
Middle Aged
Neurocognitive Disorders/complications
Prognosis
Psychological Theory
Sick Role
Somatoform Disorders/diagnosis/genetics
Stress, Psychological/complications
Suggestion
Symbolism

@article {pmid2654450,
year = {1989},
author = {Kantha, SS},
title = {A review of Nobel prizes in medicine or physiology, 1901-87.},
journal = {The Keio journal of medicine},
volume = {38},
number = {1},
pages = {1-12},
doi = {10.2302/kjm.38.1},
pmid = {2654450},
issn = {0022-9717},
mesh = {History, 20th Century ; *Nobel Prize ; Research/history ; },
abstract = {This review examines the awards of Nobel Prizes for Medicine or Physiology discipline between 1901 and 1987, in order to evaluate the advances made in biomedical sciences in the twentieth century. A total of 78 awards had been made amounting to 144 laureates. Countrywise, scientists from the USA lead the tally of Nobelists with 62 laureates, followed by those from Britain and Germany. In the first quarter (1901-25), majority of the awards were given to pioneering studies in microbiology and physiology. Following three decades (1926-55) show the emergence of biochemists as preferred winners with many of the nutrition-related discoveries receiving the recognition. During and immediately after the Second World War (between 1939 and 1957), pharmacology related studies were also awarded Nobel merit. Molecular biology, genetics and immunology had become the prime areas for recipients during the last three decades beginning with 1958. Apart from these four distinct speciality areas, classic discoveries in the fields of neurosciences and behavior, clinical medicine, experimental biology endocrinology had also been recognized at regular intervals.},
}

History, 20th Century
*Nobel Prize
Research/history

@article {pmid2670565,
year = {1989},
author = {Preston, RJ},
title = {A short journey from classical to molecular cytogenetics.},
journal = {Environmental and molecular mutagenesis},
volume = {14},
number = {2},
pages = {126-132},
doi = {10.1002/em.2850140209},
pmid = {2670565},
issn = {0893-6692},
mesh = {Animals ; Chromosome Banding/history ; Chromosome Mapping/history ; Genetics/*history ; History, 20th Century ; Humans ; Mutagenicity Tests/history ; },
}

Animals
Chromosome Banding/history
Chromosome Mapping/history
Genetics/*history
History, 20th Century
Humans
Mutagenicity Tests/history

@article {pmid2670664,
year = {1989},
author = {Nagylaki, T},
title = {Gustave Malécot and the transition from classical to modern population genetics.},
journal = {Genetics},
volume = {122},
number = {2},
pages = {253-268},
doi = {10.1093/genetics/122.2.253},
pmid = {2670664},
issn = {0016-6731},
mesh = {France ; *Genetics, Population ; History, 20th Century ; Inbreeding ; },
abstract = {The contributions of Gustave Malécot to theoretical population genetics are described, discussed, and put into perspective relative to earlier and later work. In this context, certain aspects of the theory of inbreeding, the correlation between relatives, the evolution of finite panmictic populations, and (in more depth) spatial variation are reviewed. A brief biographical sketch of Malécot is also presented.},
}

France
*Genetics, Population
History, 20th Century
Inbreeding

@article {pmid2683776,
year = {1989},
author = {Pyeritz, RE},
title = {Pleiotropy revisited: molecular explanations of a classic concept.},
journal = {American journal of medical genetics},
volume = {34},
number = {1},
pages = {124-134},
doi = {10.1002/ajmg.1320340120},
pmid = {2683776},
issn = {0148-7299},
support = {HL35877/HL/NHLBI NIH HHS/United States ; RR00722/RR/NCRR NIH HHS/United States ; },
mesh = {Animals ; Connective Tissue Diseases/genetics ; History, 20th Century ; Humans ; Marfan Syndrome/genetics/history ; *Mutation ; Pedigree ; *Phenotype ; Rats ; },
abstract = {As commonly used, pleiotropy refers to multiple effects on phenotype of a single mutant gene. The importance of this concept to medical genetics has waxed and waned since its formulation soon after the rediscovery of Mendel's laws. Initially, the view that all aspects of a phenotype, and hence all manifestations of a mendelian syndrome, derive from a single function (or dysfunction) of a mutant allele gained ascendancy. Support for the importance of pleiotropy gradually diminished, and reached a low point in the 1940s with the one gene-one enzyme hypothesis. Studies of mammals and humans with heritable disorders of connective tissue sustained the notion that "genuine" pleiotropy probably did not exist. However, the demise of the relevance of pleiotropy was premature. Detailed understanding of gene organization, expression, and mutation indicates several mechanisms, such as multifunctional proteins, alternative splicing of messenger RNA, and overlapping coding sequences, through which genuine pleiotropy likely occurs in normal development and function, in mendelian syndromes, and in conditions due to somatic mutation. Furthermore, a broad definition of pleiotropy is warranted to subsume syndromes caused by abnormal function of contiguous genes, such as through large deletions, mutation of regulatory elements that coordinate expression, or less clearly understood "position effects." Thus, the use of pleiotropy in the context of aneuploidy syndromes is not inappropriate.},
}

Animals
Connective Tissue Diseases/genetics
History, 20th Century
Humans
Marfan Syndrome/genetics/history
*Mutation
Pedigree
*Phenotype
Rats

@article {pmid2698847,
year = {1989},
author = {Allen, GE},
title = {Eugenics and American social history, 1880-1950.},
journal = {Genome},
volume = {31},
number = {2},
pages = {885-889},
doi = {10.1139/g89-156},
pmid = {2698847},
issn = {0831-2796},
mesh = {Attitude to Health ; Eugenics/*history ; Europe ; History, 19th Century ; History, 20th Century ; Humans ; Internationality ; Political Systems/history ; Social Problems/*history ; Social Values ; Socioeconomic Factors ; United States ; },
abstract = {Eugenics, the attempt to improve the human species socially through better breeding was a widespread and popular movement in the United States and Europe between 1910 and 1940. Eugenics was an attempt to use science (the newly discovered Mendelian laws of heredity) to solve social problems (crime, alcoholism, prostitution, rebelliousness), using trained experts. Eugenics gained much support from progressive reform thinkers, who sought to plan social development using expert knowledge in both the social and natural sciences. In eugenics, progressive reformers saw the opportunity to attack social problems efficiently by treating the cause (bad heredity) rather than the effect. Much of the impetus for social and economic reform came from class conflict in the period 1880-1930, resulting from industrialization, unemployment, working conditions, periodic depressions, and unionization. In response, the industrialist class adopted firmer measures of economic control (abandonment of laissez-faire principles), the principles of government regulation (interstate commerce, labor), and the cult of industrial efficiency. Eugenics was only one aspect of progressive reform, but as a scientific claim to explain the cause of social problems, it was a particularly powerful weapon in the arsenal of class conflict at the time.},
}

Attitude to Health
Eugenics/*history
Europe
History, 19th Century
History, 20th Century
Humans
Internationality
Political Systems/history
Social Problems/*history
Social Values
Socioeconomic Factors
United States

@article {pmid3035690,
year = {1987},
author = {Bussey, HJ},
title = {Historical developments in familial polyposis coli.},
journal = {Seminars in surgical oncology},
volume = {3},
number = {2},
pages = {67-70},
doi = {10.1002/ssu.2980030204},
pmid = {3035690},
issn = {8756-0437},
mesh = {Adenomatous Polyposis Coli/genetics/*history/pathology ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; },
abstract = {The emergence of familial polyposis coli from the general group of conditions with multiple polyps of the large intestine into a well-defined separate entity started when histopathology became a science. The recognition of its two main features--inheritance as a Mendelian dominant characteristic and its high incidence of associated colorectal cancer--greatly helped in establishing a policy of treatment designed to prevent cancer. The removal of all or most of the large intestine before cancer had supervened has had considerable success in reducing the cancer incidence. However, the more recent awareness that the adenomas can frequently be found also in the upper gastrointestinal tract has introduced new problems, the solution of which is currently a matter of investigation.},
}

Adenomatous Polyposis Coli/genetics/*history/pathology
History, 18th Century
History, 19th Century
History, 20th Century
Humans

@article {pmid3295605,
year = {1987},
author = {},
title = {Nutrition classics. Archives of Internal Medicine, Volume 64, October 1939: Angina pectoris in hereditary xanthomatosis. By Carl Müller.},
journal = {Nutrition reviews},
volume = {45},
number = {4},
pages = {113-115},
doi = {10.1111/j.1753-4887.1987.tb02723.x},
pmid = {3295605},
issn = {0029-6643},
mesh = {Angina Pectoris/etiology/*history ; Female ; History, 20th Century ; Humans ; Hyperlipoproteinemia Type II/complications ; Male ; Xanthomatosis/complications/genetics/*history ; },
}

Angina Pectoris/etiology/*history
Female
History, 20th Century
Humans
Hyperlipoproteinemia Type II/complications
Male
Xanthomatosis/complications/genetics/*history

@article {pmid3302014,
year = {1987},
author = {Monaghan, FV and Corcos, AF},
title = {Tschermak: a non-discoverer of mendelism. II. A critique.},
journal = {The Journal of heredity},
volume = {78},
number = {3},
pages = {208-210},
doi = {10.1093/oxfordjournals.jhered.a110361},
pmid = {3302014},
issn = {0022-1503},
mesh = {Crosses, Genetic ; Fabaceae/genetics ; Genes, Dominant ; Genes, Recessive ; Genetics/*history ; Genotype ; Germany ; History, 19th Century ; History, 20th Century ; Phenotype ; Plants, Medicinal ; },
abstract = {An examination of Tschermak's two papers of 1900 not only reinforces our conclusion cited in our first paper on Tschermak that he was not a rediscoverer of Mendelism, but also he did not understand Mendel when he had read it. His concept of dominance differed from that of Mendel, and his use of his own concept is inconsistent and contradictory. His discussion of his backcross data indicated that he had no idea of the nature of Mendelian ratios. Nowhere did he develop the ideas of segregation and independent assortment.},
}

Crosses, Genetic
Fabaceae/genetics
Genes, Dominant
Genes, Recessive
Genetics/*history
Genotype
Germany
History, 19th Century
History, 20th Century
Phenotype
Plants, Medicinal

@article {pmid3306547,
year = {1987},
author = {Albert, DM},
title = {Historic review of retinoblastoma.},
journal = {Ophthalmology},
volume = {94},
number = {6},
pages = {654-662},
doi = {10.1016/s0161-6420(87)33407-4},
pmid = {3306547},
issn = {0161-6420},
mesh = {Eye Neoplasms/*diagnosis/history/pathology/therapy ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Retinoblastoma/*diagnosis/history/pathology/therapy ; },
abstract = {Retinoblastoma was first described as a specific entity by James Wardrop in 1809, with enucleation as his suggested treatment. Histologic studies including those of Flexner and Verhoeff and subsequent electron microscopy have given insights into its pathogenesis. The establishment of cell lines of retinoblastoma, the "nude" mouse model, and other animal models have contributed additional information. Classic genetic and epidemiologic studies have led to a broad and intense interest in the tumor despite its relative infrequency. Attempts now in progress to identify and characterize the oncogene for retinoblastoma may prove to be the most exciting part of the history of retinoblastoma.},
}

Eye Neoplasms/*diagnosis/history/pathology/therapy
History, 17th Century
History, 18th Century
History, 19th Century
History, 20th Century
Humans
Retinoblastoma/*diagnosis/history/pathology/therapy

@article {pmid3884699,
year = {1985},
author = {Monaghan, FV and Corcos, AF},
title = {Mendel, the empiricist.},
journal = {The Journal of heredity},
volume = {76},
number = {1},
pages = {49-54},
doi = {10.1093/oxfordjournals.jhered.a110017},
pmid = {3884699},
issn = {0022-1503},
mesh = {Genetics/*history ; History, 19th Century ; },
abstract = {In contemporary texts in biology and genetics, Mendel is frequently portrayed as a theorist who was the father of classical genetics. According to some authors, he created his theory of inheritance to explain the results of his experimental hybridizations of peas. Others have proposed that he designed and carried out his experiments to demonstrate the correctness of a theory of inheritance he had already developed. We disagree strongly with these views of Mendel. Instead, we have come to regard him as an empirical investigator trying to discover the empirical natural laws describing the formation of hybrid peas and the development of their offspring over several generations. We have supported our view with an analysis of portions of Mendel's paper and his letters to Carl N ageli.},
}

Genetics/*history
History, 19th Century

@article {pmid3889132,
year = {1985},
author = {Corcos, A and Monaghan, F},
title = {Role of de Vries in the recovery of Mendel's work. I. Was de Vries really an independent discoverer of Mendel?.},
journal = {The Journal of heredity},
volume = {76},
number = {3},
pages = {187-190},
doi = {10.1093/oxfordjournals.jhered.a110062},
pmid = {3889132},
issn = {0022-1503},
mesh = {Botany/history ; *Famous Persons ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; },
abstract = {Recently, doubt has been cast on the view that de Vries developed the idea of disjunction independently of Mendel. Arguments are based on de Vries' own writings that showed the F2 data of his numerous crosses are reported as 3:1 ratios only after 1900. They also show that his theory of inheritance becomes quasi Mendelian only after 1900. The authors of this review paper cannot but agree with de Vries' critics that he did not develop his law of disjunction independently of Mendel. They also raise some questions that, hopefully, will lead to a reanalysis of de Vries' theory of inheritance in 1900.},
}

Botany/history
*Famous Persons
Genetics/*history
History, 19th Century
History, 20th Century
Humans

@article {pmid3901055,
year = {1985},
author = {Szewczyk, H},
title = {[Phenomenology in the life work of Karl Leonhard as the climax of a classical view and a starting point of dialectic thought in psychiatry].},
journal = {Psychiatrie, Neurologie, und medizinische Psychologie},
volume = {37},
number = {7},
pages = {373-384},
pmid = {3901055},
issn = {0033-2739},
mesh = {Animals ; Germany ; History, 19th Century ; History, 20th Century ; *Philosophy ; Psychiatry/*history ; },
abstract = {The development of Karl Leonhards opinions, and particularly his schizophrenia theory, in the psychiatry of his time is presented in the form of a historical outline. Since the psychosis cannot be regarded as a self-contained phenomena even today, it is necessary to seek correlations, and, finally, causal relationships, with the results yielded by other science. This is shown by means of relationships established to results obtained in psychology, the physiopathology of the brain, genetics, sociology and in research into prognostication and the way in which people come to terms with their illnesses. The conclusion is drawn that Leonhards phenomenology represents an optimum starting point for psychiatry in future.},
}

Animals
Germany
History, 19th Century
History, 20th Century
*Philosophy
Psychiatry/*history

@article {pmid3909193,
year = {1985},
author = {Gaissinovitch, AE},
title = {Contradictory appraisal by K.A. Timiriazev of Mendelian principles and its subsequent perception.},
journal = {History and philosophy of the life sciences},
volume = {7},
number = {2},
pages = {257-286},
pmid = {3909193},
issn = {0391-9714},
mesh = {Genetics/*history ; History, 20th Century ; Mutation ; Russia (Pre-1917) ; },
}

Genetics/*history
History, 20th Century
Mutation
Russia (Pre-1917)

@article {pmid3931868,
year = {1985},
author = {},
title = {Classics in oncology. Heredity with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895-1913. By Aldred Scott Warthin. 1913.},
journal = {CA: a cancer journal for clinicians},
volume = {35},
number = {6},
pages = {348-359},
doi = {10.3322/canjclin.35.6.348},
pmid = {3931868},
issn = {0007-9235},
mesh = {Female ; History, 19th Century ; History, 20th Century ; Humans ; Male ; Neoplasms/genetics/*history ; },
}

Female
History, 19th Century
History, 20th Century
Humans
Male
Neoplasms/genetics/*history

@article {pmid4596078,
year = {1973},
author = {Polgar, S},
title = {Introductory statement: the objectives and history of birth planning.},
journal = {International journal of health services : planning, administration, evaluation},
volume = {3},
number = {4},
pages = {557-560},
pmid = {4596078},
issn = {0020-7314},
mesh = {Abortion, Induced ; Africa ; Asia ; Contraception ; Culture ; Developing Countries ; Ecology ; Ethics ; Eugenics ; Europe ; *Family Planning Services/history ; Female ; History, 16th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, Ancient ; Humans ; North America ; Politics ; Population Growth ; Pregnancy ; Social Planning ; South America ; },
}

Abortion, Induced
Africa
Asia
Contraception
Culture
Developing Countries
Ecology
Ethics
Eugenics
Europe
*Family Planning Services/history
Female
History, 16th Century
History, 18th Century
History, 19th Century
History, 20th Century
History, Ancient
Humans
North America
Politics
Population Growth
Pregnancy
Social Planning
South America

@article {pmid4868655,
year = {1965},
author = {Klein, D},
title = {[Gregor Mendel, the classic Mendelism and its influence on human genetics].},
journal = {Archiv der Julius Klaus-Stiftung fur Vererbungsforschung, Sozialanthropologie und Rassenhygiene},
volume = {40},
number = {1-4},
pages = {9-18},
pmid = {4868655},
issn = {0003-8881},
mesh = {Austria ; Genetics, Medical/*history ; History, 19th Century ; },
}

Austria
Genetics, Medical/*history
History, 19th Century

@article {pmid4875192,
year = {1968},
author = {Posner, E and Skutil, J},
title = {The great neglect: the fate of Mendel's classic paper between 1865 and 1900.},
journal = {Medical history},
volume = {12},
number = {2},
pages = {122-136},
pmid = {4875192},
issn = {0025-7273},
mesh = {Europe ; *Famous Persons ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Manuscripts as Topic/*history ; United States ; },
}

Europe
*Famous Persons
Genetics/*history
History, 19th Century
History, 20th Century
Manuscripts as Topic/*history
United States

@article {pmid4875295,
year = {1968},
author = {},
title = {The classic: Marie, P., and Sainton P.: Sur la dysostose cleido-cranienne herediataire, Rev. neurol. 6:835, 1898. On hereditary cleido-cranial dysostosis.},
journal = {Clinical orthopaedics and related research},
volume = {58},
number = {},
pages = {5-7},
pmid = {4875295},
issn = {0009-921X},
mesh = {Cleidocranial Dysplasia/*genetics/history ; Female ; History, 19th Century ; Humans ; Male ; },
}

Cleidocranial Dysplasia/*genetics/history
Female
History, 19th Century
Humans
Male

@article {pmid4878291,
year = {1965},
author = {Hernández Corzo, A},
title = {[Centenary of the publication of the works of Gtegor Mendel on genetics. IV. From the Mendelian units to the new particles of inheritance].},
journal = {Gaceta medica de Mexico},
volume = {95},
number = {9},
pages = {807-814},
pmid = {4878291},
issn = {0016-3813},
mesh = {*Famous Persons ; Genes/*history ; Genetics/*history ; History of Medicine ; History, 19th Century ; History, 20th Century ; },
}

*Famous Persons
Genes/*history
Genetics/*history
History of Medicine
History, 19th Century
History, 20th Century

@article {pmid4880130,
year = {1968},
author = {Lints, FA and Delcour, J},
title = {Galton and the Mendelian ratios.},
journal = {Heredity},
volume = {23},
number = {1},
pages = {153-154},
doi = {10.1038/hdy.1968.18},
pmid = {4880130},
issn = {0018-067X},
mesh = {England ; Genetics/*history ; History, 19th Century ; },
}

England
Genetics/*history
History, 19th Century

@article {pmid4890321,
year = {1968},
author = {Komai, T},
title = {Pavlov and genetics.},
journal = {The Journal of heredity},
volume = {59},
number = {5},
pages = {311-312},
doi = {10.1093/oxfordjournals.jhered.a107728},
pmid = {4890321},
issn = {0022-1503},
mesh = {Conditioning, Classical/history ; Genetics/*history ; History of Medicine ; USSR ; },
}

Conditioning, Classical/history
Genetics/*history
History of Medicine
USSR

@article {pmid4910796,
year = {1969},
author = {Quarneti, G and Selmi, G},
title = {[Evolution of the knowledge of heredity in biology. I. Pre-mendelian period].},
journal = {Giornale di batteriologia, virologia, ed immunologia ed annali dell'Ospedale Maria Vittoria di Torino},
volume = {62},
number = {5},
pages = {577-584},
pmid = {4910796},
issn = {0017-0267},
mesh = {England ; France ; Genetics/*history ; History, 17th Century ; History, 18th Century ; History, 19th Century ; Italy ; Netherlands ; },
}

England
France
Genetics/*history
History, 17th Century
History, 18th Century
History, 19th Century
Italy
Netherlands

@article {pmid4938462,
year = {1971},
author = {Froggatt, P and Nevin, NC},
title = {The 'law of ancestral heredity' and the Mendelian-ancestrian controversy in England, 1889-1906.},
journal = {Journal of medical genetics},
volume = {8},
number = {1},
pages = {1-36},
pmid = {4938462},
issn = {0022-2593},
mesh = {Animals ; Biometry ; Breeding ; England ; Genetic Variation ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Hybridization, Genetic ; Mice ; Selection, Genetic ; Statistics as Topic ; },
}

Animals
Biometry
Breeding
England
Genetic Variation
Genetics/*history
History, 19th Century
History, 20th Century
Humans
Hybridization, Genetic
Mice
Selection, Genetic
Statistics as Topic

@article {pmid5331252,
year = {1965},
author = {Svob, T},
title = {[Mendel and Mendalism and his place in medicine. (100th anniversary of the mendelian law)].},
journal = {Medicinski arhiv},
volume = {19},
number = {6},
pages = {29-40},
pmid = {5331252},
mesh = {Genetics/*history ; History, 19th Century ; },
}

Genetics/*history
History, 19th Century

@article {pmid6178836,
year = {1982},
author = {Smith, TF and Morowitz, HJ},
title = {Between history and physics.},
journal = {Journal of molecular evolution},
volume = {18},
number = {4},
pages = {265-282},
pmid = {6178836},
issn = {0022-2844},
mesh = {Animals ; Biochemistry/history ; *Biological Evolution ; Biology/*history ; DNA/genetics ; History, 19th Century ; History, 20th Century ; *Origin of Life ; RNA/genetics ; },
abstract = {Biology has traditionally occupied a middle ground between the determinism of classical physics and the uncertainties of history. These issues are analyzed with respect to statistical laws which are applied to the prebiotic domain and strategy laws which characterize evolutionary biology. The differences in approach between biology and physics are discussed in detail. The origin of life is discussed in the context of physical chemical laws. A scenario for biogenesis is presented in terms of known molecular hardware. Evolutionary biology is then examined with respect to the kinds of laws that are possible in a domain where thermal fluctuations (mutations) have macroscopic effects. Game theory is employed to demonstrate the kinds of theory appropriate to this historical domain. The transition point between physics and history is the origin and development of the code. This is discussed and it is concluded that we are not yet able to assign the code to either the deterministic domain or to the arena of history.},
}

Animals
Biochemistry/history
*Biological Evolution
Biology/*history
DNA/genetics
History, 19th Century
History, 20th Century
*Origin of Life
RNA/genetics

@article {pmid6357993,
year = {1983},
author = {Propping, P},
title = {Genetic disorders presenting as "schizophrenia". Karl Bonhoeffer's early view of the psychoses in the light of medical genetics.},
journal = {Human genetics},
volume = {65},
number = {1},
pages = {1-10},
pmid = {6357993},
issn = {0340-6717},
mesh = {Diagnosis, Differential ; Germany ; History, 20th Century ; Humans ; Intellectual Disability/genetics ; Neurocognitive Disorders/genetics ; Psychotic Disorders/genetics/*history ; Schizophrenia/*genetics/history ; },
abstract = {There is overwhelming empirical evidence for the influence of genetic factors in the etiology of schizophrenic psychoses. An appreciable and still increasing number of exogenous factors have been known for decades that are capable of inducing psychoses that present as "schizophrenia" or are more or less similar to it. In this article, genetic disorders--chromosomal abnormalities and Mendelian diseases--are summarized that may be associated with such psychoses. These disorders frequently but not necessarily exhibit additional physical symptoms. Although the majority of schizophrenic psychoses can so far not be explained by exogenous factors or well-defined genetic disorders, the proportion of these etiologies among all cases may be higher than presumed so far, because they evade detection. Data from the literature are discussed in the light of Karl Bonhoeffer's early concept of exogenous reaction types and modern medical genetics.},
}

Diagnosis, Differential
Germany
History, 20th Century
Humans
Intellectual Disability/genetics
Neurocognitive Disorders/genetics
Psychotic Disorders/genetics/*history
Schizophrenia/*genetics/history

@article {pmid6359882,
year = {1983},
author = {Cotterman, CW},
title = {Relationship and probability in Mendelian populations.},
journal = {American journal of medical genetics},
volume = {16},
number = {3},
pages = {393-440},
doi = {10.1002/ajmg.1320160311},
pmid = {6359882},
issn = {0148-7299},
mesh = {Genetics, Medical/*history ; History, 20th Century ; Humans ; Models, Genetic ; Probability ; United States ; },
}

Genetics, Medical/*history
History, 20th Century
Humans
Models, Genetic
Probability
United States

@article {pmid6367927,
year = {1983},
author = {Richerson, HB},
title = {Hypersensitivity pneumonitis--pathology and pathogenesis.},
journal = {Clinical reviews in allergy},
volume = {1},
number = {4},
pages = {469-486},
pmid = {6367927},
issn = {0731-8235},
mesh = {Alveolitis, Extrinsic Allergic/etiology/history/*pathology ; Animals ; Complement System Proteins/immunology ; Disease Models, Animal ; History, 20th Century ; Humans ; Hypersensitivity, Delayed ; Immune Tolerance ; Immunity, Cellular ; Immunization, Passive ; Lung/pathology ; Precipitins/immunology ; },
abstract = {Early reports of hypersensitivity pneumonitis postulated that the disease was infectious or resulted from the toxic properties of the inhaled organic dusts. The finding of precipitating antibodies to moldy hay in farmers afflicted with farmer's lung suggested a role for antibody in pathogenesis, and a type III (antigen-antibody complex-mediated or Arthus) hypersensitivity reaction based on the classification of allergic reactions by Gell and Coombs was postulated. Subsequent studies have indicated the importance of cell-mediated (delayed) hypersensitivity (type IV). It must be recognized that hypersensitivity mechanisms are quite complicated and that the classification of Gell and Coombs is an oversimplification; interreacting humoral and cellular responses are typical of most hypersensitivity reactions of whatever classic type as originally defined. The prime importance of T-cell- and macrophage-mediated inflammation in HP, however, is indicated by histopathology, animal models, and in vitro correlates in humans. Major difficulties in defining completely the exact effector mechanisms involved in the pathogenesis of HP include the absence of a reliable in vitro correlate of antigen-specific effector T cells (the so called TDH cell) and the overwhelming versatility of the macrophage. There is no direct evidence to support contributions by precipitins, complement, or genetic host factors in the pathogenesis of hypersensitivity pneumonitis, nor are there studies as yet of cellular cytotoxicity contributions. Cellular and antibody interactions may lead to immunosuppressive processes modulating inflammatory responses and preventing disease despite immunogenesis. Animal models are helpful in dissecting mechanisms and defining effector functions. The eventual goal in studies of pathogenesis is to provide better tools for definitive diagnosis and methods of disease prevention, modulation, and cure.},
}

Alveolitis, Extrinsic Allergic/etiology/history/*pathology
Animals
Complement System Proteins/immunology
Disease Models, Animal
History, 20th Century
Humans
Hypersensitivity, Delayed
Immune Tolerance
Immunity, Cellular
Immunization, Passive
Lung/pathology
Precipitins/immunology

@article {pmid6368675,
year = {1984},
author = {Monaghan, F and Corcos, A},
title = {On the origins of the Mendelian laws.},
journal = {The Journal of heredity},
volume = {75},
number = {1},
pages = {67-69},
doi = {10.1093/oxfordjournals.jhered.a109868},
pmid = {6368675},
issn = {0022-1503},
mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; },
abstract = {The two laws usually attributed to Mendel were not considered as laws by him. The first law, the law of independent segregation occurs in Mendel's paper as an assumption or hypothesis. Hugo de Vries refers to this as a law discovered by Mendel. This appears to be the first use of an expression equivalent to Mendel's law. In his paper de Vries did not associate the observable characters with structures having a causitive role. That was done by Correns, who transformed the law of segregation of characters into a law of the segregation of anlagen. The second law, the law of independent assortment, is present in embryonic form in Mendel's paper. Here the independent assortment of characters appears as a secondary conclusion to a series of experiments involving several pairs of traits. Mendel repeats the primary conclusion later in the paper but not the secondary one. This leads us to believe that he considered the secondary conclusion as of lesser importance. We note in this context that the 9:3:3:1 ratio commonly associated with the idea of independent assortment, and attributed to Mendel, also does not occur in his paper. A careful reading of the papers of his discoverers shows it was Correns who first drew attention to this ratio. However, he did not formulate the second Mendelian law even though it was clearly implied. Neither was it stated by de Vries. Indeed, the first clear separation of the two laws and the naming of the second law was by T. H. Morgan some 13 years later.},
}

Genetics/*history
History, 19th Century
History, 20th Century

@article {pmid6368829,
year = {1984},
author = {Dunstan, GR},
title = {The moral status of the human embryo: a tradition recalled.},
journal = {Journal of medical ethics},
volume = {10},
number = {1},
pages = {38-44},
doi = {10.1136/jme.10.1.38},
pmid = {6368829},
issn = {0306-6800},
mesh = {Abortion, Induced/*history ; Abortion, Legal/*history ; *Beginning of Human Life ; Catholicism/history ; *Ethics, Medical ; Female ; History, Ancient ; Human Characteristics ; Human Rights/*history ; Humans ; Judaism/history ; *Life ; *Personhood ; Pregnancy ; *Religion and Medicine ; Theology ; *Value of Life ; },
}

Abortion, Induced/*history
Abortion, Legal/*history
*Beginning of Human Life
Catholicism/history
*Ethics, Medical
Female
History, Ancient
Human Characteristics
Human Rights/*history
Humans
Judaism/history
*Life
*Personhood
Pregnancy
*Religion and Medicine
Theology
*Value of Life

@article {pmid6391645,
year = {1984},
author = {Barbeau, A and Sadibelouiz, M and Roy, M and Lemieux, B and Bouchard, JP and Geoffroy, G},
title = {Origin of Friedreich's disease in Quebec.},
journal = {The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques},
volume = {11},
number = {4 Suppl},
pages = {506-509},
doi = {10.1017/s0317167100034971},
pmid = {6391645},
issn = {0317-1671},
mesh = {Female ; France/ethnology ; Friedreich Ataxia/*genetics/history ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Male ; Quebec ; },
abstract = {We have been able to trace 40 cases of classical Friedreich's disease from 14 previously unrelated French Canadian kindreds to one common ancestral couple arriving in New France in 1634: Jean Guyon and Mathurine Robin. One member of this couple presumably introduced one gene for Friedreich's disease into the French Canadian population. This gene has now been traced over 12 generations to both parents of the present cases. We plan to use this knowledge to study the spectrum of clinical manifestations of this gene and to carry out gene chromosomal localization studies, using the techniques of linkage and of molecular biology. Such studies in rare autosomal recessive disorders have previously been judged to be almost impossible.},
}

Female
France/ethnology
Friedreich Ataxia/*genetics/history
History, 17th Century
History, 18th Century
History, 19th Century
History, 20th Century
Humans
Male
Quebec

@article {pmid6391646,
year = {1984},
author = {Barbeau, A and Roy, M and Sadibelouiz, M and Wilensky, MA},
title = {Recessive ataxia in Acadians and "Cajuns".},
journal = {The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques},
volume = {11},
number = {4 Suppl},
pages = {526-533},
doi = {10.1017/s0317167100034995},
pmid = {6391646},
issn = {0317-1671},
mesh = {Canada ; Cerebellar Ataxia/history ; Female ; France/ethnology ; Friedreich Ataxia/diagnosis/*genetics ; Genes, Recessive ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Louisiana ; Male ; Pedigree ; },
abstract = {The physician exposed to a large number of patients with a recessive form of ataxia, will occasionally observe slower progression forms which lack many of the severe features or cardinal symptoms of Friedreich's disease. We have studied 31 such cases in Acadians of the Maritime Provinces of Canada, and in their separated "cousins" from Louisiana, now called "Cajuns". These patients are compared to a consecutive series of 22 Friedreich's disease cases in French Canada. It is shown that the age of onset is slightly later, but the progression much slower and the age at death older in the Acadian patients. These cases develop signs of pyramidal and posterior column involvement gradually and later than the classical Friedreich. As a result, pes cavus and scoliosis are less marked, as well as muscle weakness and cardiomyopathy. On the other hand, the rate of progression of areflexic ataxia, the "core disease", is identical in both groups. The main difference in progression rates of the disorders occurs after 10-12 years of evolution, thus after the period of hormono-ponderal growth. These differences, coupled to the diverging genetic and genealogical backgrounds, are sufficiently large for the presumption of distinct disorders. Whether they are due to allelic mutations, linked but different genes, genes affecting the same metabolic pathway, but elsewhere or to completely distinct entities, will have to be left to further studies, but their existence in completely different populations and milieux is worthy of report.},
}

Canada
Cerebellar Ataxia/history
Female
France/ethnology
Friedreich Ataxia/diagnosis/*genetics
Genes, Recessive
History, 17th Century
History, 18th Century
History, 19th Century
History, 20th Century
Humans
Louisiana
Male
Pedigree

@article {pmid6416904,
year = {1983},
author = {Van Loghem, JJ},
title = {Classic illustration (Sir Ronald Fisher).},
journal = {European journal of obstetrics, gynecology, and reproductive biology},
volume = {16},
number = {2},
pages = {147-148},
doi = {10.1016/0028-2243(83)90115-6},
pmid = {6416904},
issn = {0301-2115},
mesh = {England ; History, 20th Century ; Humans ; Medical Illustration/*history ; Rh-Hr Blood-Group System/*genetics ; },
}

England
History, 20th Century
Humans
Medical Illustration/*history
Rh-Hr Blood-Group System/*genetics

@article {pmid6505980,
year = {1984},
author = {Tavaré, S},
title = {Line-of-descent and genealogical processes, and their applications in population genetics models.},
journal = {Theoretical population biology},
volume = {26},
number = {2},
pages = {119-164},
doi = {10.1016/0040-5809(84)90027-3},
pmid = {6505980},
issn = {0040-5809},
mesh = {Alleles ; *Genealogy and Heraldry ; Genetics, Population ; *Models, Genetic ; Mutation ; Pedigree ; Recurrence ; },
abstract = {A variety of results for genealogical and line-of-descent processes that arise in connection with the theory of some classical selectively neutral population genetics models are reviewed. While some new results and derivations are included, the principle aim is to demonstrate the central importance and simplicity of genealogical Markov chains in this theory. Considerable attention is given to "diffusion time scale" approximations of such genealogical processes. A wide variety of results pertinent to (diffusion approximations of) the classical multiallele single-locus Wright-Fisher model and its relatives are simplified and unified by this approach. Other examples where such genealogical processes play an explicit role, such as the infinite sites and infinite alleles models, are discussed.},
}

Alleles
*Genealogy and Heraldry
Genetics, Population
*Models, Genetic
Mutation
Pedigree
Recurrence

@article {pmid6997204,
year = {1980},
author = {Drews, J},
title = {[Inhibitors of folic acid metabolism (author's transl)].},
journal = {Infection},
volume = {8 Suppl 3},
number = {},
pages = {S 268-75},
pmid = {6997204},
issn = {0300-8126},
mesh = {Folic Acid/*metabolism ; *Folic Acid Antagonists/history ; Germany ; History, 20th Century ; Humans ; Sulfanilamides/pharmacology ; },
abstract = {In contrast to antibiotic research, the study of folic acid metabolism and folic acid antagonists is conducted in the classical tradition of chemotherapy established by Paul Ehrlich. The elucidation of the mechanism of action of sulphonamides created an important prerequisite for the understanding of the biosynthesis of folic acid. The synthesis of inhibitors of dihydrofolate-reductase was guided on the one hand by the structure of dihydrofolate itself, and on the other hand by the fact that this substnce is essential for the growth of certain bacteria. Both approaches led to the synthesis of compounds which were effective and could be used therapeutically. The mechanism of selectivity of folic acid antagonists is described. A short account of the biochemical and genetic basis of resistance to folic acid antagonists is also given. The study of folic acid metabolism and folic acid antagonists provides a good example of the successful interaction of mechanistically inspired biochemical and chemical methods on the one hand, and an empirical approach characterised by the study of more complex biological phenomena on the other hand.},
}

Folic Acid/*metabolism
*Folic Acid Antagonists/history
Germany
History, 20th Century
Humans
Sulfanilamides/pharmacology

@article {pmid7001287,
year = {1980},
author = {},
title = {Nutrition classics: American Journal of Physiology. Volume 183, 1955. Effect of food restriction on body composition of hereditary obese mice. Lillian G. Alonso and Thomas H. Maren.},
journal = {Nutrition reviews},
volume = {38},
number = {9},
pages = {317-320},
doi = {10.1111/j.1753-4887.1980.tb05972.x},
pmid = {7001287},
issn = {0029-6643},
mesh = {Animals ; *Body Composition ; Connecticut ; Food Deprivation ; History, 20th Century ; Mice ; Mice, Obese/genetics/*metabolism ; },
}

Animals
*Body Composition
Connecticut
Food Deprivation
History, 20th Century
Mice
Mice, Obese/genetics/*metabolism

@article {pmid7047359,
year = {1982},
author = {Baker, PT},
title = {Human population biology: a viable transdisciplinary science.},
journal = {Human biology},
volume = {54},
number = {2},
pages = {203-220},
pmid = {7047359},
issn = {0018-7143},
mesh = {*Anthropology, Physical/history ; *Biology/history ; *Demography/history ; History, 20th Century ; Humans ; Research/history ; },
}

*Anthropology, Physical/history
*Biology/history
*Demography/history
History, 20th Century
Humans
Research/history

@article {pmid7478482,
year = {1995},
author = {Lörincz, P and Tímár, L and Czeizel, E},
title = {[Cases of diseases registered with the Genetic Counseling Service during the past 20 years, in the light of their etiology].},
journal = {Orvosi hetilap},
volume = {136},
number = {44},
pages = {2385-2388},
pmid = {7478482},
issn = {0030-6002},
mesh = {Consanguinity ; Family Planning Services ; Female ; Genetic Counseling/*history ; Genetic Diseases, Inborn/classification/epidemiology/*genetics ; History, 20th Century ; Humans ; Hungary/epidemiology ; Infant Mortality ; Infant, Newborn ; Male ; Mutation ; Teratogens ; },
abstract = {The authors analyse the experiences of their Genetic Counseling Clinic between 1979-1992. They show the formation of the motives of presenting and consulting. They range the consultants in three etiological categories (genetical, teratological and clinical entities). The proportion of new consultants increased fourfold and this tendency documents unambiguously the claim of family planners for this very important medical service. The proportion of Mendelian disorders, mutagen risk and consanguinity are relatively continuous. Because of teratogen risk the rate of presenting decreased moderately. The proportion of consultants shows a definite increase of multifactorial frequent disorders, which they value as a favorable tendency. For decreasing of unjustified cases they suggest the necessity of pre-screening.},
}

Consanguinity
Family Planning Services
Female
Genetic Counseling/*history
Genetic Diseases, Inborn/classification/epidemiology/*genetics
History, 20th Century
Humans
Hungary/epidemiology
Infant Mortality
Infant, Newborn
Male
Mutation
Teratogens

@article {pmid7488943,
year = {1995},
author = {Bender, MA},
title = {Cytogenetics research in radiation biology.},
journal = {Stem cells (Dayton, Ohio)},
volume = {13 Suppl 1},
number = {},
pages = {172-181},
pmid = {7488943},
issn = {1066-5099},
mesh = {Animals ; Cell Death/radiation effects ; Chromosome Aberrations ; *Cytogenetics/history ; DNA Damage ; Dose-Response Relationship, Radiation ; History, 20th Century ; Humans ; Linear Energy Transfer ; Models, Biological ; Mutation ; Neoplasms, Radiation-Induced/etiology/genetics ; *Radiobiology/history ; Research/history ; },
abstract = {Radiation cytogenetics goes back approximately six decades and not only contributed to the earliest development of radiobiology, but continues to contribute today. Contributions on three levels are outlined here. Early contributions to radiobiological theory include the nature of dose-effect curves, dose-rate and fractionation effects, and linear energy transfer (LET) effects. Understanding of the roles of aberrations in endpoints such as cell killing, mutation and carcinogenesis have more recently contributed to unraveling mechanisms in these important radiobiological effects. Finally, the study of various details of classical radiation cytogenetics, such as half chromatid exchange or sister chromatid union, has contributed to our current understanding of cytogenetic phenomena on the molecular level.},
}

Animals
Cell Death/radiation effects
Chromosome Aberrations
*Cytogenetics/history
DNA Damage
Dose-Response Relationship, Radiation
History, 20th Century
Humans
Linear Energy Transfer
Models, Biological
Mutation
Neoplasms, Radiation-Induced/etiology/genetics
*Radiobiology/history
Research/history

@article {pmid7520820,
year = {1993},
author = {Cavalli-Sforza, LL and Piazza, A},
title = {Human genomic diversity in Europe: a summary of recent research and prospects for the future.},
journal = {European journal of human genetics : EJHG},
volume = {1},
number = {1},
pages = {3-18},
doi = {10.1159/000472383},
pmid = {7520820},
issn = {1018-4813},
support = {GMS20467/GM/NIGMS NIH HHS/United States ; },
mesh = {Africa ; Alleles ; Americas ; Asia ; Australia ; DNA/genetics ; Ethnicity/genetics/history ; Europe ; Gene Frequency ; Genetic Markers ; *Genetic Variation ; History, Ancient ; Human Genome Project ; Humans ; Language ; Phylogeny ; Polymorphism, Genetic ; Population Dynamics ; },
abstract = {Gene frequencies in Europe are intermediate with respect to those of other continents. A phylogenetic tree reconstructed from 95 gene frequencies tested on 26 European samples shows some deviant populations (Lapps, Sardinians, Greeks, Yugoslavs, Basques, Icelanders and Finns) and other weakly structured populations. This behavior may have a simple interpretation: Europeans have not evolved according to a tree of descent probably because of the major role played by migrations in prehistorical and historical times. The leading component of the European genetic landscape is a gradient that originates in the Middle East and is directed to the northwest. According to the hypothesis by Ammerman and Cavalli-Sforza this gradient was generated by a migration of Neolithic farmers from Anatolia followed by continuous, partial admixture of the expanding farmers with local hunter-gatherers. Other leading components of the gene frequencies in Europe show correlations with possible movements of Uralic-speaking people and pastoral nomads from a region north of the Caucasus and Black Sea, which according to Gimbutas is the area of origin of Indo-European speakers. This analysis is based on classical pre-DNA genetic markers. The prospect of future research using DNA polymorphisms is discussed in the context of the Human Genome Project.},
}

Africa
Alleles
Americas
Asia
Australia
DNA/genetics
Ethnicity/genetics/history
Europe
Gene Frequency
Genetic Markers
*Genetic Variation
History, Ancient
Human Genome Project
Humans
Language
Phylogeny
Polymorphism, Genetic
Population Dynamics

@article {pmid7602088,
year = {1995},
author = {Johnston, TD},
title = {The influence of Weismann's germ-plasm theory on the distinction between learned and innate behavior.},
journal = {Journal of the history of the behavioral sciences},
volume = {31},
number = {2},
pages = {115-128},
doi = {10.1002/1520-6696(199504)31:2<115::aid-jhbs2300310202>3.0.co;2-k},
pmid = {7602088},
issn = {0022-5061},
mesh = {Behavioral Sciences/*history ; Biological Evolution ; Genetics, Behavioral ; *Germ Cells ; History, 20th Century ; Humans ; *Instinct ; *Learning ; Selection, Genetic ; },
abstract = {Since the early twentieth century it has been common in both psychology and behavioral biology to draw a sharp distinction between learned and innate behavior, or elements of behavior. The persistence of this dichotomy may be attributed in part to the fundamental importance of the separation of inherited and acquired characters within neo-Darwinian evolutionary theory, one of the essential foundations for the modern study of behavior. A cornerstone of early neo-Darwinian thought was August Weismann's theory of the germ plasm, which proposed a segregation between germinal and somatic cells during development, thus ruling out the possibility that acquired characters could be inherited. This denial of Lamarckian hereditary mechanisms became one of the hallmarks of neo-Darwinism, as opposed to classical Darwinism. Within the neo-Darwinian framework it thus became important, as Weismann himself pointed out, to distinguish sharply between inherited and acquired characters. Although the dichotomy has frequently been criticized it remains tenacious, surfacing in different guises as older versions of it became terminologically unacceptable. The analysis offered here suggests that this tenacity may partly be explained by the implications of Weismann's germ-plasm theory, and its modern incarnation in the central dogma of molecular genetics, and by the central thematic position of those ideas in the neo-Darwinian foundations of modern behavioral biology.},
}

Behavioral Sciences/*history
Biological Evolution
Genetics, Behavioral
*Germ Cells
History, 20th Century
Humans
*Instinct
*Learning
Selection, Genetic

@article {pmid7628072,
year = {1995},
author = {Scriver, CR},
title = {Whatever happened to PKU?.},
journal = {Clinical biochemistry},
volume = {28},
number = {2},
pages = {137-144},
doi = {10.1016/0009-9120(94)00076-8},
pmid = {7628072},
issn = {0009-9120},
mesh = {Female ; Genetic Heterogeneity ; History, 20th Century ; Humans ; Male ; Mutation ; Phenylketonurias/genetics/*history ; },
abstract = {The history of PKU is one of science in the discovery of an inborn error of metabolism and a chemical cause of mental retardation; and also one of technology with the development of methods to prevent disease. PKU is the classic example of success in the prevention of a genetic disease. Meanwhile, the science has continued to evolve over the 60 years since the discovery of PKU, generating new understanding of its clinical and metabolic phenotypes and about phenylalanine hydroxylation. At least five known genes are involved in hydroxylation of phenylalanine, synthesis of tetrahybrobiopterin and regeneration of this cofactor. The genes have been cloned and mutations characterized for several enzymes (GTPCH, 6-PTPS, PHS/DoCH, DHPR, PAH). A new animal model (the enu mouse) is contributing to knowledge about pathogenesis of brain disease and potential new treatments. The human phenylalanine hydroxylase gene (PAH) itself harbors 99% of the mutations causing hyperphenylalaninemia, over 170 different mutations have been identified at this locus. They cause loss of function; none affecting regulation has been identified. The aggregate PKU gene frequency at 1% is polymorphic in many human populations and mutations are highly stratified by region and population reflecting a variety of mechanisms (founder effect, genetic drift, hypermutability and, perhaps, selection) for their occurrence and distribution.},
}

Female
Genetic Heterogeneity
History, 20th Century
Humans
Male
Mutation
Phenylketonurias/genetics/*history

@article {pmid7688132,
year = {1993},
author = {Portin, P},
title = {The concept of the gene: short history and present status.},
journal = {The Quarterly review of biology},
volume = {68},
number = {2},
pages = {173-223},
doi = {10.1086/418039},
pmid = {7688132},
issn = {0033-5770},
mesh = {Animals ; Chromosomes ; DNA/genetics ; Eukaryotic Cells/physiology ; Europe ; Gene Expression Regulation ; *Genes ; Genetic Code ; Genetic Techniques/history ; Genetics/*history ; History, 20th Century ; Humans ; Models, Genetic ; Prokaryotic Cells/physiology ; Protein Biosynthesis ; Proteins/genetics ; RNA/genetics ; United States ; },
abstract = {The concept of the gene is and has always been a continuously evolving one. In order to provide a structure for understanding the concept, its history is divided into classical, neoclassical, and modern periods. The classical view prevailed into the 1930s, and conceived the gene as an indivisible unit of genetic transmission, recombination, mutation, and function. The discovery of intragenic recombination in the early 1940s and the establishment of DNA as the physical basis of inheritance led to the neoclassical concept of the gene, which prevailed until the 1970s. In this view the gene (or cistron, as it was called then) was subdivided into its constituent parts, mutons and recons, identified as nucleotides. Each cistron was believed to be responsible for the synthesis of a single mRNA and hence for one polypeptide. This colinearity hypothesis prevailed from 1955 to the 1970s. Starting from the early 1970s, DNA technologies have led to the modern period of gene conceptualization, wherein none of the classical or neoclassical criteria are sufficient to define a gene. Modern discoveries include those of repeated genes, split genes and alternative splicing, assembled genes, overlapping genes, transposable genes, complex promoters, multiple polyadenylation sites, polyprotein genes, editing of the primary transcript, and nested genes. We are currently left with a rather abstract, open, and generalized concept of the gene, even though our comprehension of the structure and organization of the genetic material has greatly increased.},
}

Animals
Chromosomes
DNA/genetics
Eukaryotic Cells/physiology
Europe
Gene Expression Regulation
*Genes
Genetic Code
Genetic Techniques/history
Genetics/*history
History, 20th Century
Humans
Models, Genetic
Prokaryotic Cells/physiology
Protein Biosynthesis
Proteins/genetics
RNA/genetics
United States

@article {pmid7762985,
year = {1995},
author = {Bertranpetit, J and Sala, J and Calafell, F and Underhill, PA and Moral, P and Comas, D},
title = {Human mitochondrial DNA variation and the origin of Basques.},
journal = {Annals of human genetics},
volume = {59},
number = {1},
pages = {63-81},
doi = {10.1111/j.1469-1809.1995.tb01606.x},
pmid = {7762985},
issn = {0003-4800},
support = {GMS 20467/GM/NIGMS NIH HHS/United States ; GMS 28428/GM/NIGMS NIH HHS/United States ; },
mesh = {Base Sequence ; DNA, Mitochondrial/*genetics ; Emigration and Immigration ; Ethnicity/*genetics/history ; Europe ; Gene Frequency ; Genetic Markers ; History, Modern 1601- ; Humans ; Italy ; Middle East ; Molecular Sequence Data ; Polymerase Chain Reaction ; Population Dynamics ; Spain ; White People/genetics ; },
abstract = {The hypervariable segment I of the control region of the mtDNA (positions 16024-16383) was PCR-amplified from mouth scrape and hairs and sequenced in 45 unrelated individuals of pure matrilineal Basque descent. Twenty-seven different sequences were found, of which 21 are unique to the Basques. The allelic partition observed, together with resampling experiments, suggested that much more variation remained to be discovered. The mean pairwise difference in number of nucleotides between individuals was 3-15, a very low value. Moreover, the number of steps for the most parsimonious tree is very low compared to the number of different sequences. Both findings suggest that the Basque population was founded by a few lineages that diverged in a short time span. The number of nucleotide differences between individuals was shown not to be influenced by the distance between their birthplaces, thus validating the sampling strategy used a posteriori. The pairwise difference distribution agreed well with the three-parameter model proposed by Rogers & Harpending (1992). The parameter estimates found for the Basques implied that a demographic expansion (or perhaps two, given the bimodal shape of the distribution) took place sometime between 14500 and 42000 BP which is in agreement with archaeological data. Our sample was compared to other populations for which D-loop sequences were available through the Nei & Miller (1990) distance. In a neighbour-joining tree, all the Caucasoid samples, including the Basques, appeared tightly clustered, whereas African samples were the most distant to the Caucasoids and also the most heterogeneous. Although classical markers, such as blood groups and protein polymorphisms, clearly separate the Basques (and the Sardinians) from other European populations, this distinctiveness was not found using D-loop sequences.},
}

Base Sequence
DNA, Mitochondrial/*genetics
Emigration and Immigration
Ethnicity/*genetics/history
Europe
Gene Frequency
Genetic Markers
History, Modern 1601-
Humans
Italy
Middle East
Molecular Sequence Data
Polymerase Chain Reaction
Population Dynamics
Spain
White People/genetics

@article {pmid7766954,
year = {1994},
author = {Følling, I},
title = {The discovery of phenylketonuria.},
journal = {Acta paediatrica (Oslo, Norway : 1992). Supplement},
volume = {407},
number = {},
pages = {4-10},
doi = {10.1111/j.1651-2227.1994.tb13440.x},
pmid = {7766954},
issn = {0803-5326},
mesh = {Awards and Prizes ; History, 20th Century ; Humans ; Intellectual Disability/history ; Norway ; Phenylketonurias/genetics/*history/urine ; Philosophy ; United States ; },
abstract = {In 1934, two severely mentally retarded children were examined by Dr Asbjørn Følling. He proved, by classical organic chemistry, that they excreted phenylpyruvic acid in their urine. The substance was also found in the urine of eight additional mentally retarded patients. Based on these observations, oligophrenia phenylpyrouvica (later termed phenylketonuria) was described as a new inborn error of metabolism. Følling later showed the pattern of an autosomal recessive genetic disease, probably caused by a block in phenylalanine metabolism, and that asymptomatic heterozygote carriers of the trait could be detected by phenylalanine loading. The stepwise elucidation and the line of reasoning are described. Phenylketonuria was the first inborn error of metabolism shown to affect the mind, and its importance as a model disease is emphasized. The article finally gives some insight into aspects of the personality of the discoverer.},
}

Awards and Prizes
History, 20th Century
Humans
Intellectual Disability/history
Norway
Phenylketonurias/genetics/*history/urine
Philosophy
United States

@article {pmid7821729,
year = {1994},
author = {De Meyts, P},
title = {The structural basis of insulin and insulin-like growth factor-I receptor binding and negative co-operativity, and its relevance to mitogenic versus metabolic signalling.},
journal = {Diabetologia},
volume = {37 Suppl 2},
number = {},
pages = {S135-48},
pmid = {7821729},
issn = {0012-186X},
mesh = {Amino Acid Sequence ; Animals ; *Awards and Prizes ; Belgium ; Cell Division ; *Diabetes Mellitus/history ; Europe ; Exons ; History, 20th Century ; Humans ; Insulin/*physiology ; Insulin-Like Growth Factor I/*physiology ; Macromolecular Substances ; Models, Molecular ; Models, Structural ; Receptor, IGF Type 1/chemistry/genetics/*physiology ; Receptor, Insulin/chemistry/genetics/*physiology ; *Signal Transduction ; Societies, Medical ; },
abstract = {Insulin and insulin-like growth factor-I exhibit a set of non-classical receptor binding properties suggestive of negative co-operativity or site-site interactions between the two receptor halves: curvilinear Scatchard plots, acceleration of dissociation of bound labelled ligand at high dilution in the presence of unlabelled ligand. The alpha 2 beta 2 receptor dimer binds only one ligand molecule with high affinity. The dose-response curve for the acceleration of 125I-insulin by unlabelled insulin is bell-shaped, with a disappearance of the negative co-operativity at insulin concentrations over 0.1 mumol/l. This phenomenon had been attributed to insulin dimerization, but new data with non-dimerizing analogues and insulins modified at the hexamer-forming surface indicate the presence of a second binding site on the insulin molecule's hexamer face. This site binds to a second domain on the receptor. A new binding model for insulin and insulin-like growth factor-I is proposed where the bivalent ligand bridges the two receptor alpha subunits alternatively at opposite sites in a symmetrical receptor structure. The implications of the model for negative co-operativity, bell-shaped biological curves, and the divergence between mitogenic and metabolic signalling are discussed in the context of the evolution of the properties of insulin and insulin-like growth factor-I.},
}

Amino Acid Sequence
Animals
*Awards and Prizes
Belgium
Cell Division
*Diabetes Mellitus/history
Europe
Exons
History, 20th Century
Humans
Insulin/*physiology
Insulin-Like Growth Factor I/*physiology
Macromolecular Substances
Models, Molecular
Models, Structural
Receptor, IGF Type 1/chemistry/genetics/*physiology
Receptor, Insulin/chemistry/genetics/*physiology
*Signal Transduction
Societies, Medical

@article {pmid8085089,
year = {1994},
author = {Cruz-Coke, R},
title = {[The evolution theory in the medical sciences in Chile].},
journal = {Revista medica de Chile},
volume = {122},
number = {2},
pages = {211-214},
pmid = {8085089},
issn = {0034-9887},
mesh = {*Biological Evolution ; Chile ; History, 19th Century ; History, 20th Century ; },
abstract = {The evolutionist ideas of Lamarck, Darwin and Haeckel entered the country through the arrival of their books. "On the origin of Species" arrived in Chile in 1869. The most outstanding immigrant european physicians that discussed these ideas were Rodulfo A Phillippi (1808-1904) and Juan José Brunner (1825-1899). Both discussed Darwin's ideas in their books and conferences as academics of the Faculty of Medicine of the University of Chile. The first Chilean physicians that read and discussed the validity of evolution theory were Adolfo Valderrama (1834-1902) and Pedro Candia Salgado. Both wrote articles about this matter in Revista Médica de Chile in 1872 and 1874. The professor of general biology, Juan Noé Crevani, italian physician and zoologist that arrived in Chile in 1912, was the first to teach directly the concepts of the evolution theory until his death in 1947. Professor Noé founded the great biological school of the twentieth century in Chile and his disciples introduced the concepts of Mendelian theory and neodarwinism in the decade of fifties. The theory of evolution was taught as a chapter of general biology in the Faculty of Medicine between 1913 and 1947, but its practical applications to medicine were introduced with the birth of medical genetics in the decade of fifties and the foundation of Chilean Genetics society in 1964, under the direction of professors Danko Brncic and Gustavo Hoecker, both awarded with the National Sciences Prize.},
}

*Biological Evolution
Chile
History, 19th Century
History, 20th Century

@article {pmid8222248,
year = {1993},
author = {Goldberg, DM and Diamandis, EP},
title = {Models of neoplasia and their diagnostic implications: a historical perspective.},
journal = {Clinical chemistry},
volume = {39},
number = {11 Pt 2},
pages = {2360-2374},
pmid = {8222248},
issn = {0009-9147},
mesh = {History, 20th Century ; Humans ; *Models, Biological ; Neoplasm Metastasis ; Neoplasms/chemically induced/diagnosis/etiology/genetics/*history ; Phenotype ; },
abstract = {In comparison with normal cells, cancer cells have an enhanced ability to trap both nitrogen and energy; an enhanced operation of the glycolytic and direct oxidative pathways, leading to accumulation of lactate and increased production of NADPH; and a greater content of lysosomal hydrolases. These changes represent a reprogramming of gene expression, which, at its most specific, is accompanied by the reappearance in the cell and ultimately in the body fluids of oncodevelopmental proteins not normally found in mature adult tissues. The most florid stage of this reprogramming leads to the metastatic phenotype, which confers upon the cancer cell the ability to stimulate angiogenesis, invade the bloodstream and lymphatic vessel, and arrest and proliferate in distant tissues. The diagnostic implications of these phenotypic changes are illustrated for cancer of the cervix uteri and cancer of the colon. We also review the classical theories of neoplasia, including the cellular anoxia concept of Warburg, the deletion hypothesis of Potter, and various other mechanisms emphasizing genomic derepression and impaired immunity. The critical steps in chemical carcinogenesis are described, and the Vogelstein-Lane model is presented, emphasizing the stepwise and cumulative genomic changes affecting chromosomes 5q, 17p, 18q, and gene amplification of chromosome 12 as well as genomic instability resulting from reduced DNA methylation. The main consequences of these genomic alterations include overexpression or activation of oncogenes such as c-myc and k-ras, together with mutation or functional inactivation of suppressor genes such as p53. Finally, the implications of these findings for diagnosis and management are illustrated by reference to recent investigations in cancers of the breast, colon, and bladder, in which these genomic alterations can be detected by examination of appropriate cellular material and by detection in serum of antibodies to the p53 gene product.},
}

History, 20th Century
Humans
*Models, Biological
Neoplasm Metastasis
Neoplasms/chemically induced/diagnosis/etiology/genetics/*history
Phenotype

@article {pmid8239698,
year = {1993},
author = {Goldsmith, LA},
title = {Mendelism in early 20th-century American dermatology.},
journal = {Archives of dermatology},
volume = {129},
number = {11},
pages = {1405-1408},
pmid = {8239698},
issn = {0003-987X},
mesh = {Dermatology/*history ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Humans ; Molecular Biology/history ; Periodicals as Topic ; Textbooks as Topic ; United States ; Writing ; },
abstract = {Now, almost a century ago since Mendel's work was rediscovered, is a propitious time to review the appearance of mendelian concepts in American dermatology. In our world of instantaneous and sometimes overwhelming dissemination of new information and the apparent rapid incorporation of new knowledge into our specialty, it is useful to examine how heredity was incorporated in the dermatologic literature in the first 25 years of the 20th century. The dermatologic literature serves as a surrogate for the thought of the era.},
}

Dermatology/*history
Genetics/*history
Germany
History, 19th Century
History, 20th Century
Humans
Molecular Biology/history
Periodicals as Topic
Textbooks as Topic
United States
Writing

@article {pmid8261258,
year = {1993},
author = {Hopper, JL},
title = {Variance components for statistical genetics: applications in medical research to characteristics related to human diseases and health.},
journal = {Statistical methods in medical research},
volume = {2},
number = {3},
pages = {199-223},
doi = {10.1177/096228029300200302},
pmid = {8261258},
issn = {0962-2802},
mesh = {Genetic Diseases, Inborn/*genetics ; *Genetic Variation ; *Health Status ; History, 20th Century ; Humans ; *Models, Genetic ; *Models, Statistical ; Multivariate Analysis ; Pedigree ; Social Environment ; },
abstract = {RA Fisher introduced variance components in 1918. He synthesized Mendelian inheritance with Darwin's theory of evolution by showing that the genetic variance of a continuous trait could be decomposed into additive and non-additive components. The model can be extended to include environmental factors, interactions, covariation, and non-random mating. Identifiability depends critically on design. Methods of analysis include modelling the mean squares from a fixed effects analysis of variance, and covariance structure modelling, which can be extended to multivariate traits and has been used to study ordinal traits by reference to postulated, unmeasured, latent 'liabilities'. These methods operate on dependent observations within independent groups of the same size and structure, and therefore require balanced designs ('regular' pedigrees). A multivariate normal model handles data in its generic form, utilizes data efficiently from all members of pedigrees of unequal size or varying structure, accommodates individuals missing at random, and allows flexible modelling with tests of distributional assumptions and fit. Most analytical methods use least squares or maximum likelihood under normal theory. Robust methods, scale transformation, ascertainment, path diagrams and correlational path models (popular in behavioural genetics through addressing nonrandom mating and social interactions), 'heritability', and the contribution and limitations of statistical modelling to the 'nature-nurture' debate, are discussed.},
}

Genetic Diseases, Inborn/*genetics
*Genetic Variation
*Health Status
History, 20th Century
Humans
*Models, Genetic
*Models, Statistical
Multivariate Analysis
Pedigree
Social Environment

@article {pmid8272644,
year = {1993},
author = {Cruz-Coke, R},
title = {[Fiftieth anniversary of classical genetics of professor Noe (1943-1993)].},
journal = {Revista medica de Chile},
volume = {121},
number = {5},
pages = {581-587},
pmid = {8272644},
issn = {0034-9887},
mesh = {Chile ; Education, Medical/history ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Schools, Medical/history ; Universities/history ; },
abstract = {Fifty years ago, the author was a student of Dr Juan Noé's general biology course. Dr Noé, an italian physician and biologist, was the most outstanding european teacher in Chile during the first half of twentieth century (1912-1947) and was the founder of the "Instituto de Biología de la Universidad de Chile". In 1943 Dr Noé taught to the author the classical genetics of that age that included basic concepts of mendelian theory, evolution, comparative anatomy, cytogenetics, eugenics and normal and pathological inheritance. He also undertook controversial problems of those times such as eugenics, racism, humanism and the ambiguity about "inherited defects" associated to syphilis, alcoholism and tuberculosis. The author received a firm education on the history of biological sciences, mendelism, evolution and genetic etiology of classical hereditary diseases such as hemophilia, daltonism, Huntington chorea and muscular dystrophy. Furthermore, Noé made mention of the hereditary etiology of cancer in animals and human leukemias and of the concept of polygenic diseases as a consequence inheritance-environment interactions. The author concludes emphasizing the importance of basic and clinical education in the teaching of medical genetics.},
}

Chile
Education, Medical/history
Genetics, Medical/*history
History, 20th Century
Humans
Schools, Medical/history
Universities/history

@article {pmid8279481,
year = {1993},
author = {Beighton, P and Sujansky, E and Patzak, B and Portele, KA},
title = {Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.},
journal = {American journal of medical genetics},
volume = {47},
number = {6},
pages = {843-847},
doi = {10.1002/ajmg.1320470609},
pmid = {8279481},
issn = {0148-7299},
mesh = {Achondroplasia/genetics/pathology ; Adult ; Austria ; Bone Diseases, Developmental/*genetics/pathology ; Bone and Bones/*pathology ; Cleidocranial Dysplasia/genetics/pathology ; Exostoses, Multiple Hereditary/genetics/pathology ; Female ; Humans ; Infant ; Male ; Marfan Syndrome/genetics/pathology ; Middle Aged ; *Museums ; *Pathology ; Rickets/genetics/*pathology ; },
abstract = {Skeletal material in the Museum of Pathological Anatomy, Vienna, has been appraised in order to modify existing descriptive designations and to establish diagnoses of specific genetic disorders. In this way osseous material relating to classical genetic syndromes has been identified and will be available for further study. Among the skeletons of adults in the museum, the following genetic conditions could be diagnosed: achondroplasia, Marfan syndrome, cleidocranial dysostosis, and diaphyseal aclasia. In adult sisters with dwarfism and a rickety bone disorder, the final diagnosis was uncertain. Infantile bone dysplasias, genetic conditions involving the skull, and malformation syndromes which are all represented in the museum are currently being analyzed.},
}

Achondroplasia/genetics/pathology
Adult
Austria
Bone Diseases, Developmental/*genetics/pathology
Bone and Bones/*pathology
Cleidocranial Dysplasia/genetics/pathology
Exostoses, Multiple Hereditary/genetics/pathology
Female
Humans
Infant
Male
Marfan Syndrome/genetics/pathology
Middle Aged
*Museums
*Pathology
Rickets/genetics/*pathology

@article {pmid8298509,
year = {1993},
author = {Panek, AD},
title = {Yeast--100 years of contribution to biochemistry.},
journal = {Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas},
volume = {26},
number = {4},
pages = {337-341},
pmid = {8298509},
issn = {0100-879X},
mesh = {Biochemistry/*history ; History, 19th Century ; History, 20th Century ; Research/history ; Yeasts/*metabolism ; },
abstract = {For centuries mankind has benefited from yeast for its survival as well as for joy and even solace in moments of pain. Today the yeast cell is considered a universal model yielding answers to important and intriguing questions about cell division, differentiation, transduction of signals and cell disorders. Classical and molecular genetic methods have been successfully applied to understand the association of genes with proteins and functions-a knowledge which has also led to the development of new biotechnologies.},
}

Biochemistry/*history
History, 19th Century
History, 20th Century
Research/history
Yeasts/*metabolism

@article {pmid8456501,
year = {1993},
author = {Modell, B and Kuliev, AM},
title = {A scientific basis for cost-benefit analysis of genetics services.},
journal = {Trends in genetics : TIG},
volume = {9},
number = {2},
pages = {46-52},
doi = {10.1016/0168-9525(93)90186-L},
pmid = {8456501},
issn = {0168-9525},
mesh = {Abortion, Therapeutic ; Algorithms ; *Cost-Benefit Analysis ; Eugenics ; Europe ; Female ; Genetic Counseling/*economics ; Genetic Diseases, Inborn ; Genetic Testing/*economics ; Health Policy ; Humans ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis/*economics ; Resource Allocation ; State Medicine/economics ; United Kingdom ; World Health Organization ; beta-Thalassemia/genetics/prevention & control ; },
abstract = {Economic appraisal of genetics services is important, but, in this sensitive area, analyses limited to financial aspects understandably cause public concern. Evaluation of these services must take account of their aim of helping everyone with a genetic disadvantage to live and reproduce as normally as possible, and must apply equally to patients and to couples at risk of having affected children. Here we propose that the classical concept of genetic fitness can be useful in evaluating genetics services, because it is measurable, and truly represents their underlying aim.},
}

Abortion, Therapeutic
Algorithms
*Cost-Benefit Analysis
Eugenics
Europe
Female
Genetic Counseling/*economics
Genetic Diseases, Inborn
Genetic Testing/*economics
Health Policy
Humans
Infant, Newborn
Pregnancy
Prenatal Diagnosis/*economics
Resource Allocation
State Medicine/economics
United Kingdom
World Health Organization
beta-Thalassemia/genetics/prevention & control

@article {pmid8534508,
year = {1995},
author = {Grubb, R},
title = {Perspectives and future directions. Immunogenetics.},
journal = {Experimental and clinical immunogenetics},
volume = {12},
number = {3},
pages = {217-221},
doi = {10.1159/000424874},
pmid = {8534508},
issn = {0254-9670},
mesh = {Autoimmune Diseases/genetics/immunology ; Blood Group Antigens/genetics ; Disease Susceptibility/immunology ; Forecasting ; Genetic Predisposition to Disease ; HLA Antigens/genetics ; History, 20th Century ; Humans ; Immunogenetics/history/*trends ; Immunoglobulin Allotypes/genetics ; Rh-Hr Blood-Group System/genetics/history ; Risk Assessment ; Virus Diseases/genetics/immunology ; },
abstract = {An outline of the history of immunogenetics is presented. The usefulness of the Rh, HLA and Gm systems in disease prediction and prevention will increase with our capacity precisely to relate polymorphic variants to particular functions and pathophysiological events. Alloimmunization to Gm markers is common in rheumatoid arthritis, an allegedly autoimmune disease. This paradox and the paradox of nonnominal allotypes, disobeying Mendelian rules, are resolved by the interpretation that herpesviruses may transfer nonself polymorphic genes. Transduction of such genes may be important also in AIDS pathogenesis.},
}

Autoimmune Diseases/genetics/immunology
Blood Group Antigens/genetics
Disease Susceptibility/immunology
Forecasting
Genetic Predisposition to Disease
HLA Antigens/genetics
History, 20th Century
Humans
Immunogenetics/history/*trends
Immunoglobulin Allotypes/genetics
Rh-Hr Blood-Group System/genetics/history
Risk Assessment
Virus Diseases/genetics/immunology

@article {pmid8538298,
year = {1995},
author = {Häggblom, L and Sanner, G},
title = {[Joint hypermobility, skin hyper-elasticity, connective tissue fragility: classical symptoms of Ehlers-Danlos syndrome].},
journal = {Lakartidningen},
volume = {92},
number = {50},
pages = {4809-4813},
pmid = {8538298},
issn = {0023-7205},
mesh = {Denmark ; Dermatology/*history ; Ehlers-Danlos Syndrome/diagnosis/genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Paris ; Pedigree ; },
}

Denmark
Dermatology/*history
Ehlers-Danlos Syndrome/diagnosis/genetics/*history
History, 19th Century
History, 20th Century
Humans
Paris
Pedigree

@article {pmid8539738,
year = {1995},
author = {Wolland, AM and Lindback, T},
title = {[Cornelia de Lange syndrome and the woman behind the syndrome].},
journal = {Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke},
volume = {115},
number = {30},
pages = {3724-3726},
pmid = {8539738},
issn = {0029-2001},
mesh = {Child ; Child, Preschool ; De Lange Syndrome/diagnosis/genetics/*history ; Female ; History, 19th Century ; History, 20th Century ; Humans ; Infant ; Infant, Newborn ; Male ; Netherlands ; Pediatrics/history ; Syndrome ; },
abstract = {The phrase syndrome indicates that certain symptoms and signs run together as a clinical entity. Collectively they characterize a particular disease or abnormal condition. Some syndromes are rare, but it is important to recognize them. Correct and early diagnosis is important for the individuals concerned, and for their families. Cornelia de Lange syndrome in its classical form is a syndrome of several congenital abnormalities and mental retardation. When not fully developed the syndrome may cause diagnostic problems. The authors discuss some biographical data about Cornelia de Lange and some matters concerning the syndrome.},
}

Child
Child, Preschool
De Lange Syndrome/diagnosis/genetics/*history
Female
History, 19th Century
History, 20th Century
Humans
Infant
Infant, Newborn
Male
Netherlands
Pediatrics/history
Syndrome

@article {pmid8563251,
year = {1995},
author = {Li, P and Waldo, D and Pineo, S and Foster, P},
title = {An efficient delivery of historical information for the Mendelian Inheritance in Man database.},
journal = {Proceedings. Symposium on Computer Applications in Medical Care},
volume = {},
number = {},
pages = {127-131},
pmid = {8563251},
issn = {0195-4210},
mesh = {Database Management Systems ; *Databases, Factual/history ; *Genetics, Medical ; History, 20th Century ; Humans ; Online Systems ; Programming Languages ; Quality Control ; *Software ; },
abstract = {The ability to manage information with regard to changes in a database is critical for quality control. This information can also provide audit trails about the time of the change and the person who made the change. In addition, historical information can provide the proper context in which to interpret the relationships between the current and past data. In most genomic databases, only the most recent copy of the information is presented to the user, thereby losing the audit trail and the historical context. Therefore, we have constructed a delivery mechanism for the historical information in the Mendelian Inheritance in Man database. Furthermore, this feature was designed to optionally display only the changes so that the user can bypass the unchanged portions of the text. It was anticipated that technical problems would influence the acceptance of this information delivery. However, the involvement of the editorial staff became the critical factor.},
}

Database Management Systems
*Databases, Factual/history
*Genetics, Medical
History, 20th Century
Humans
Online Systems
Programming Languages
Quality Control
*Software

@article {pmid8563453,
year = {1995},
author = {Reagan, LJ},
title = {Linking midwives and abortion in the Progressive Era.},
journal = {Bulletin of the history of medicine},
volume = {69},
number = {4},
pages = {569-598},
pmid = {8563453},
issn = {0007-5140},
mesh = {Abortion, Induced/*history ; Female ; History, 19th Century ; History, 20th Century ; Humans ; Midwifery/*history ; Obstetrics/history ; Pregnancy ; United States ; },
}

Abortion, Induced/*history
Female
History, 19th Century
History, 20th Century
Humans
Midwifery/*history
Obstetrics/history
Pregnancy
United States

@article {pmid8690571,
year = {1996},
author = {Kathren, RL},
title = {Pathway to a paradigm: the linear nonthreshold dose-response model in historical context. The American Academy of Health Physics 1995 Radiology Centennial Hartman Oration.},
journal = {Health physics},
volume = {70},
number = {5},
pages = {621-635},
doi = {10.1097/00004032-199605000-00002},
pmid = {8690571},
issn = {0017-9078},
mesh = {Dose-Response Relationship, Radiation ; Health Physics/history ; History, 19th Century ; History, 20th Century ; Radiation Dosage ; Radiation Protection/*history ; Radiology/*history ; },
abstract = {This paper traces the evolution of the linear nonthreshold dose-response model and its acceptance as a paradigm in radiation protection practice and risk analysis. Deterministic effects such as skin burns and even deep tissue trauma were associated with excessive exposure to x rays shortly after their discovery, and carcinogenicity was observed as early as 1902. Still, it was not until 1925 that the first protective limits were suggested. For three decades these limits were based on the concept of a tolerance dose which, if not exceeded, would result in no demonstrable harm to the individual and implicitly assumed a threshold dose below which radiation effects would be absent. After World War II, largely because of genetic concerns related to atmospheric weapons testing, radiation protection dose limits were expressed in terms of a risk based maximum permissible dose which clearly implied no threshold. The 1927 discovery by Muller of x-ray induced genetic mutations in fruit flies, linear with dose and with no apparent threshold, was an important underpinning of the standards. The linear nonthreshold dose-response model was originally used to provide an upper limit estimate of the risk, with zero being the lower limit, of low level irradiation since the dose-response curve could not be determined at low dose levels. Evidence to the contrary such as hormesis and the classic studies of the radium dial painters notwithstanding, the linear nonthreshold model gained greater acceptance and in the centennial year of the discovery of x rays stands as a paradigm although serious questions are beginning to be raised regarding its general applicability. The work includes a brief digression describing the work of x-ray protection pioneer William Rollins and concludes with a recommendation for application of a de minimis dose level in radiation protection.},
}

Dose-Response Relationship, Radiation
Health Physics/history
History, 19th Century
History, 20th Century
Radiation Dosage
Radiation Protection/*history
Radiology/*history

@article {pmid8718799,
year = {1995},
author = {Vrbová, H},
title = {[Analysis of the literary legacy of Professor Josef Charvát].},
journal = {Sbornik lekarsky},
volume = {96},
number = {2},
pages = {147-155},
pmid = {8718799},
issn = {0036-5327},
mesh = {Czech Republic ; History, 20th Century ; Humans ; Internal Medicine/history ; },
abstract = {The literary inheritance of Professor Joseph Charvát (1897-1984) consists of 10 monographs and 545 other titles, some of which have not appeared in the public press. The author himself arranged his original papers written in Czech as well as other European languages, reviews, essays on health education, publicistic discourses and Varia chronologically from 1922 till 1981. His literary inheritance reflects the history of the Czech internal medicine, the Czech medical faculty of Charles University in Prague and the Czech society and illustrates the broad field of interests of the author. As a disciple of Joseph Pelnár, he was a broadly oriented internist and a classic of the Czech academic medicine. He is recognized as the founder of Czechoslovak endocrinology and one of the founders of behavioural medicine (21). He was interested in medical education (12) and promotion of clinical science and research. He predicted the significance of biocybernetics, clinical genetics and social medicine and public health for the further development of health sciences. His literary inheritance reflects his civic responsibility, courage and authority he enjoyed in the Czech society during the Thirties, the Forties and the Sixties. His work gives evidence of his activities in the World Health Organization and on Economic and Social Council of the Advisory Committee of United Nations, concerning the application of science and technology to the general world development (13, 14, 15, 16). Professor Joseph Charvát's inheritance has not only historical relevance as it contains specific entities, such as holistic approach to medicine, science, men and human society, which should be rediscovered in the present time. Important is also his warning that the progress of humanistic subjects in medicine lags behind the advances in natural science and technology. Professor Charvát offers an interesting concept of creativity. His mastery of communication and his ethical reflexion on scientific knowledge in natural sciences are of lasting value. The dominant principle of his attitude toward problem solving, in medicine and in the society as well, is a positive feedback concept.},
}

Czech Republic
History, 20th Century
Humans
Internal Medicine/history

@article {pmid8748019,
year = {1995},
author = {Barton, NH and Wilson, I},
title = {Genealogies and geography.},
journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences},
volume = {349},
number = {1327},
pages = {49-59},
doi = {10.1098/rstb.1995.0090},
pmid = {8748019},
issn = {0962-8436},
mesh = {Gene Frequency ; *Genealogy and Heraldry ; Genes/genetics ; *Genetics, Population ; Genotype ; Humans ; Mathematics ; },
abstract = {Any sample of genes traces back to a single common ancestor. Each gene also has other properties: its sequence, its geographic location and the phenotype and fitness of the organism that carries it. With sexual reproduction, different genes have different genealogies, which gives us much more information, but also greatly complicates population genetic analysis. We review the close relation between the distribution of genealogies and the classic theory of identity by descent in spatially structured populations, and develop a simple diffusion approximation to the distribution of coalescence times in a homogeneous two-dimensional habitat. This shows that when neighbourhood size is large (as in most populations) only a small fraction of pairs of genes are closely related, and only this fraction gives information about current rates of gene flow. The increase of spatial dispersion with lineage age is thus a poor estimator of gene flow. The bulk of the genealogy depends on the long-term history of the population; we discuss ways of inferring this history from the concordance between genealogies across loci.},
}

Gene Frequency
*Genealogy and Heraldry
Genes/genetics
*Genetics, Population
Genotype
Humans
Mathematics

@article {pmid8779152,
year = {1996},
author = {Golubovskiĭ, MD and Aleksandrov, IuN},
title = {[A classic of Russian genetics (on the 90th birthday of S. M. Gershenzon)].},
journal = {TSitologiia i genetika},
volume = {30},
number = {1},
pages = {77-80, 3 of cover},
pmid = {8779152},
issn = {0564-3783},
mesh = {Genetics/history ; History, 20th Century ; Russia ; USSR ; Virology/history ; },
}

Genetics/history
History, 20th Century
Russia
USSR
Virology/history

@article {pmid8837699,
year = {1996},
author = {Kendler, KS and Zerbin-Rüdin, E},
title = {Abstract and review of "Studien Uber Vererbung und Entstehung Geistiger Störungen. I. Zur Vererbung und Neuentstehung der Dementia praecox." (Studies on the inheritance and origin of mental illness: I. To the problem of the inheritance and primary origin of dementia praecox). 1916.},
journal = {American journal of medical genetics},
volume = {67},
number = {4},
pages = {338-342},
doi = {10.1002/(SICI)1096-8628(19960726)67:4<338::AID-AJMG4>3.0.CO;2-I},
pmid = {8837699},
issn = {0148-7299},
support = {MH-41953/MH/NIMH NIH HHS/United States ; },
mesh = {Female ; History, 20th Century ; Humans ; Male ; Morbidity ; Nuclear Family ; Risk Factors ; Schizophrenia/epidemiology/*genetics ; },
abstract = {The first major family study of schizophrenia, reported by Ernst Rüdin in 1916, examined 2,732 siblings of 755 probands, diagnosed according to the teachings of Kraepelin. This study, the goal of which was to see whether the segregation pattern of schizophrenia in siblings conformed to simple mendelian expectations, was the first in psychiatry to use systematic ascertainment, proband correction and calculation of an age corrected risk of illness--the morbid risk (MR). The MR for narrowly and broadly defined schizophrenia in this sample can be calculated to equal 5.4 and 7.7%. "Other psychoses"--a heterogeneous category--were also common in these siblings (a MR of 5.1%). In a small sample of half-siblings, the MR for narrowly defined schizophrenia was quite low (0.6%). The risk for schizophrenia in siblings was significantly increased by a parental diagnosis of alcoholism, a history of schizophrenia in second or third degree relatives, and, particularly, by a parental diagnosis of "other psychoses." No evidence was found for sex-specific transmission of schizophrenia in these sibships. The MR for narrowly and broadly definite schizophrenia in parents of these probands can be estimated to be 2.3% and 3.9%, respectively. In accord with more recent studies, Rüdin found i) a familial relationship between schizophrenia and other psychoses ii) a substantially lower risk for schizophrenia in parents vs. siblings and iii) a segregation pattern of schizophrenia in siblings that did not conform to that expected for a simple mendelian disorder.},
}

Female
History, 20th Century
Humans
Male
Morbidity
Nuclear Family
Risk Factors
Schizophrenia/epidemiology/*genetics

@article {pmid8837700,
year = {1996},
author = {Kendler, KS and Zerbin-Rüdin, E},
title = {Abstract and review of "Zur Erbpathologie der Schizophrenie" (Contribution to the genetics of schizophrenia). 1916.},
journal = {American journal of medical genetics},
volume = {67},
number = {4},
pages = {343-346},
doi = {10.1002/(SICI)1096-8628(19960726)67:4<343::AID-AJMG5>3.0.CO;2-N},
pmid = {8837700},
issn = {0148-7299},
support = {MH-41953/MH/NIMH NIH HHS/United States ; },
mesh = {Female ; History, 20th Century ; Humans ; Male ; Morbidity ; Nuclear Family ; Risk Factors ; Schizophrenia/diagnosis/epidemiology/*genetics ; },
abstract = {Starting from the 722 probands originally studied by Rüdin, Bruno Schulz re-examined them and their relatives confirming the diagnosis in 660. While Rüdin sought for mendelian ratios in siblings, Schulz, anticipating modern methods, focused on the family study method as an approach to clarifying possible etiologic heterogeneity within the schizophrenia syndrome. Using a Kraepelian approach to diagnosis, Schulz reports a MR for narrowly and broadly defined schizophrenia of 6.7 and 8.2% in siblings and 2.6 and 3.7% in parents. He found no evidence for a difference in risk of illness in siblings as a function of either the gender or outcome of the proband. The risk for schizophrenia was significantly increased in siblings of hebephrenic probands. Compared to siblings of probands with no identified factor which precipitated their schizophrenia, the risk for schizophrenia was significantly decreased in probands with a physical etiologic factor but did not differ in siblings of probands with a psychological etiologic factor. The risk for schizophrenia was particularly low in siblings of probands whose onset of illness occurred within a year of major head trauma.},
}

Female
History, 20th Century
Humans
Male
Morbidity
Nuclear Family
Risk Factors
Schizophrenia/diagnosis/epidemiology/*genetics

@article {pmid8906061,
year = {1996},
author = {Ahn, MS and Jackler, RK and Lustig, LR},
title = {The early history of the neurofibromatosis. Evolution of the concept of neurofibromatosis type 2.},
journal = {Archives of otolaryngology--head & neck surgery},
volume = {122},
number = {11},
pages = {1240-1249},
doi = {10.1001/archotol.1996.01890230086016},
pmid = {8906061},
issn = {0886-4470},
mesh = {Europe ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, Ancient ; History, Medieval ; Humans ; Male ; Neurofibromatosis 1/history ; Neurofibromatosis 2/*history ; Neuroma/classification/history ; Neuroma, Acoustic/history ; },
abstract = {Although neurofibromatosis (NF) became widely recognized as a pathologic entity in the late 19th century, only relatively recently has a clear distinction been made between its generalized form and the central variety. The latter form is typified by bilateral acoustic neuromas (ANs), which may be accompanied by other intracranial tumors, in particular, meningiomas. Up until almost the current era, confusion regarding the protean manifestations of the 2 types of NF existed in the minds of clinicians and in the literature. In 1987, a consensus panel of the National Institutes of Health differentiated the clinical manifestations associated with classic von Recklinghausen syndrome from those of the predominantly intracranial subtype and they were subsequently deemed NF type 1 (NF-1) and NF type 2 (NF-2), respectively. During the last few years, the genetic flaws that underlie these 2 syndromes have been elucidated, revealing that their origins lie in defects on separate chromosomes. The early literature on the subject included repeated descriptions of patients with manifestations typical of NF-2. The investigators, however, considered the intracranial lesions to be merely 1 facet of the generalized form of the disease. A few prescient individuals, however, demonstrated an appreciation for the distinguishing characteristics between these superficially similar, yet quite different, syndromes. The goals of this article are to trace the evolution of the concept of NF-2 as a distinct clinical entity from NF-1 and to assess the early awareness of and attitudes toward bilateral ANs, familial ANs, and ANs associated with other intracranial tumors.},
}

Europe
History, 16th Century
History, 17th Century
History, 18th Century
History, 19th Century
History, 20th Century
History, Ancient
History, Medieval
Humans
Male
Neurofibromatosis 1/history
Neurofibromatosis 2/*history
Neuroma/classification/history
Neuroma, Acoustic/history

@article {pmid8940903,
year = {1996},
author = {Fujimura, JH},
title = {Standardizing practices: a socio-history of experimental systems in classical genetic and virological cancer research, ca. 1920-1978.},
journal = {History and philosophy of the life sciences},
volume = {18},
number = {1},
pages = {3-54},
pmid = {8940903},
issn = {0391-9714},
mesh = {Animals ; Clinical Protocols ; Disease Models, Animal ; History, 20th Century ; Humans ; Mice ; Molecular Biology/*history ; Neoplasms/etiology/*history ; Proto-Oncogene Mas ; Proto-Oncogenes ; *Research Design ; United States ; Virology/*history ; },
abstract = {This paper presents a narrative history of technologies in cancer research circa 1920-1978 and a theoretical perspective on the complex, intertwined relationships between scientific problems, material practices and technologies, concepts and theories, and other historical circumstances. The history presents several active lines of research and technology development in the genetics of cancer in the United States which were constitutive of proto-oncogene work in its current form. I write this history from the perspective of technology development. Scientists participating in cancer research created tools with which to study their problems of interest, but the development of the tools also influenced the questions asked and answered in the form of concepts and theories developed. These tools included genetic ideas of the 1920s, inbred mouse colonies, chemicals and antibiotics developed during World War Two, tissue cultures and their technical procedures, and viruses. I examine these tools as standardized experimental systems that standardized materials as well as practices in laboratories. Inbred animals, tissue culture materials and methods, and tumor viruses as experimental systems gave materiality to "genes' and "cancer'. They are technical-natural objects that stand-in for nature in the laboratory.},
}

Animals
Clinical Protocols
Disease Models, Animal
History, 20th Century
Humans
Mice
Molecular Biology/*history
Neoplasms/etiology/*history
Proto-Oncogene Mas
Proto-Oncogenes
*Research Design
United States
Virology/*history

@article {pmid9136281,
year = {1996},
author = {Wailoo, K},
title = {Genetic marker of segregation: sickle cell anemia, thalassemia, and racial ideology in American medical writing 1920-1950.},
journal = {History and philosophy of the life sciences},
volume = {18},
number = {3},
pages = {305-320},
pmid = {9136281},
issn = {0391-9714},
mesh = {Black or African American/history ; Anemia, Sickle Cell/genetics/*history ; Black People/genetics/*history ; Female ; History, 20th Century ; Humans ; Male ; *Prejudice ; Race Relations/*history ; Thalassemia/genetics/*history ; United States ; },
abstract = {This paper focuses on sickle cell anemia and thalassemia as case studies of genetic disease in America. Before the 1950s, these diseases were perceived by many physicians as closely related (indeed, by some as indistinguishable). Sickle cell anemia was defined by most American physicians as a Mendelian dominant disorder specific to African-Americans. As such, it could be 'spread' by any individual parent 'carrier' through reproduction. This view of the disease fed into (and was supported by) prevalent social concerns about miscegenation and, more generally, the dangers inherent in 'negro blood'. A particularly thorny problem for American physicians was how to explain cases of 'sickle cell anemia in white patients'. The paper examines how views about race, blood, and Mendelian genetics informed broader debates about the nature of hereditary disease and social relations in America from 1910 to 1950.},
}

Black or African American/history
Anemia, Sickle Cell/genetics/*history
Black People/genetics/*history
Female
History, 20th Century
Humans
Male
*Prejudice
Race Relations/*history
Thalassemia/genetics/*history
United States

@article {pmid9137624,
year = {1997},
author = {Gould, SE and Grainger, RM},
title = {Neural induction and antero-posterior patterning in the amphibian embryo: past, present and future.},
journal = {Cellular and molecular life sciences : CMLS},
volume = {53},
number = {4},
pages = {319-338},
doi = {10.1007/pl00000609},
pmid = {9137624},
issn = {1420-682X},
mesh = {Amphibians/*embryology ; Animals ; Body Patterning ; Drosophila/embryology ; Ectoderm/physiology ; Embryology/*history ; Embryonic Induction ; History, 20th Century ; Intercellular Signaling Peptides and Proteins ; Mesoderm/physiology ; Models, Biological ; Nervous System/*embryology ; Proteins/physiology ; Xenopus Proteins ; },
abstract = {Neural induction and patterning in competent ectoderm occurs during gastrula and early neurula stages in response to signals from dorsal mesoderm. The earliest views of antero-posterior (A-P) patterning were modified beginning in the 1930s, as complexities concerning the timing of the pattern-forming process and potential sources of the patterning signals were revealed. In the 1950s and 1960s several different models for A-P patterning were proposed, all of which, however, bear a number of similarities, including a two-component system for generating A-P axial information in the embryo. Early attempts to identify neural-inducing molecules were largely unsuccessful due to technical limitations in biochemical analyses and concerns about assaying neural responses. The advent of modern molecular genetic technology has permitted more precise tests of a number of classic observations about the timing of A-P patterning and the sources of patterning signals. While some early observations have been confirmed, a number of new concepts have emerged in recent years, particularly concerning the source of patterning signals in the embryo. Striking progress has been made in identifying putative neural-inducing molecules, and recent experiments have begun to suggest how these might contribute to A-P patterning. While the successes in recent years have been revealing, many of the classic issues concerning neural induction and patterning remain essentially as they were when first defined many decades ago. The power of modern molecular genetics, however, should permit many of these issues to be significantly clarified in the decades to come.},
}

Amphibians/*embryology
Animals
Body Patterning
Drosophila/embryology
Ectoderm/physiology
Embryology/*history
Embryonic Induction
History, 20th Century
Intercellular Signaling Peptides and Proteins
Mesoderm/physiology
Models, Biological
Nervous System/*embryology
Proteins/physiology
Xenopus Proteins

@article {pmid9140400,
year = {1997},
author = {Bowers, JE and Meredith, CP},
title = {The parentage of a classic wine grape, Cabernet Sauvignon.},
journal = {Nature genetics},
volume = {16},
number = {1},
pages = {84-87},
doi = {10.1038/ng0597-84},
pmid = {9140400},
issn = {1061-4036},
mesh = {Alleles ; *Crosses, Genetic ; France ; Fruit/classification/*genetics ; Gene Frequency ; Genetic Linkage ; History, 17th Century ; History, 18th Century ; Likelihood Functions ; Microsatellite Repeats/*genetics ; Polymorphism, Restriction Fragment Length ; *Wine/history ; },
abstract = {The world's great wines are produced from a relatively small number of classic European cultivars of Vitis vinifera L Most are thought to be centuries old and their origins have long been the subject of speculation. Among the most prominent of these cultivars is Cabernet Sauvignon, described as "the world's most renowned grape variety for the production of fine red wine". Although now grown in many countries, Cabernet Sauvignon derives its fame from its long association with the Bordeaux region of France, where it has been grown at least since the 17th century. We present microsatellite DNA evidence for the hypothesis that Cabernet Sauvignon is the progeny of two other Bordeaux cultivars, Cabernet franc and Sauvignon blanc. Likelihood ratios support this hypothesis to a very high degree of probability. A close relationship between Cabernet Sauvignon and Cabernet franc has been suspected but the genetic contribution of Sauvignon blanc, despite its similar name, is a surprise.},
}

Alleles
*Crosses, Genetic
France
Fruit/classification/*genetics
Gene Frequency
Genetic Linkage
History, 17th Century
History, 18th Century
Likelihood Functions
Microsatellite Repeats/*genetics
Polymorphism, Restriction Fragment Length
*Wine/history

@article {pmid9209755,
year = {1997},
author = {Thompson, E},
title = {Symbol grounding: a bridge from artificial life, to artificial intelligence.},
journal = {Brain and cognition},
volume = {34},
number = {1},
pages = {48-71},
doi = {10.1006/brcg.1997.0906},
pmid = {9209755},
issn = {0278-2626},
mesh = {Animals ; *Artificial Intelligence ; Computational Biology ; DNA/genetics ; Humans ; Mental Processes/physiology ; Neural Networks, Computer ; Philosophy ; Semantics ; Symbolism ; Trinucleotide Repeats/genetics ; },
abstract = {This paper develops a bridge from AL issues about the symbol-matter relation to AI issues about symbol-grounding by focusing on the concepts of formality and syntactic interpretability. Using the DNA triplet-amino acid specification relation as a paradigm, it is argued that syntactic properties can be grounded as high-level features of the non-syntactic interactions in a physical dynamical system. This argument provides the basis for a rebuttal of John Searle's recent assertion that syntax is observer-relative (1990, 1992). But the argument as developed also challenges the classic symbol-processing theory of mind against which Searle is arguing, as well as the strong AL thesis that life is realizable in a purely computational medium. Finally, it provides a new line of support for the autonomous systems approach in AL and AI (Varela & Bourgine 1992a, 1992b).},
}

Animals
*Artificial Intelligence
Computational Biology
DNA/genetics
Humans
Mental Processes/physiology
Neural Networks, Computer
Philosophy
Semantics
Symbolism
Trinucleotide Repeats/genetics

@article {pmid9224941,
year = {1997},
author = {Melnick, M},
title = {Cleft lip and palate etiology and its meaning in early 20th century England: Galton/Pearson vs. Bateson; polygenically poor protoplasm vs. Mendelism.},
journal = {Journal of craniofacial genetics and developmental biology},
volume = {17},
number = {2},
pages = {65-79},
pmid = {9224941},
issn = {0270-4145},
mesh = {Cleft Lip/genetics/*history ; Cleft Palate/genetics/*history ; England ; Eugenics/history ; Female ; Genetics, Medical/history ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Male ; Models, Genetic ; Pedigree ; },
abstract = {At the outset of the 20th century in England there arose a venomous dispute between Mendelian geneticists such as Bateson and anti-Mendelian biometricians such as Pearson over the genetic etiology of such "physical deformities" as cleft lip and palate. To Pearson et al., such traits were an expression of physical and racial degeneracy which could be traced to polygenically poor protoplasm. To Bateson et al., such traits were Mendelian unit characters whose segregation could be seen in carefully constructed family pedigrees. Bateson dismissed the work of the anti-Mendelians as "unsound in construction" and predicted such thinking would inevitably lead to "brutal" control of those the larger society deemed unfit. History proved Bateson astutely prescient.},
}

Cleft Lip/genetics/*history
Cleft Palate/genetics/*history
England
Eugenics/history
Female
Genetics, Medical/history
History, 18th Century
History, 19th Century
History, 20th Century
Humans
Male
Models, Genetic
Pedigree

@article {pmid9284643,
year = {1997},
author = {Sapp, J},
title = {Jean Brachet, l'hérédité générale and the origins of molecular embryology.},
journal = {History and philosophy of the life sciences},
volume = {19},
number = {1},
pages = {69-87},
pmid = {9284643},
issn = {0391-9714},
mesh = {Animals ; Belgium ; History, 20th Century ; Humans ; Molecular Biology/*history ; Research/history ; },
abstract = {Jean Brachet's research on microsomes and the role of RNA in protein synthesis during the 1940s and 50s is placed in the context of embryological views about the role of the cytoplasm in development, and plasmagene theory based on studies of non-Mendelian inheritance in microorganisms. I show how Brachet's subsequent conception of messenger RNA evolved in the context of his conceptions of the relations between plasmagenes and nuclear genes. His theorizing on cytoplasmic organelles and viruses is further situated in the bio-political controversy over the inheritance of acquired characteristics during the Lysenko controversy.},
}

Animals
Belgium
History, 20th Century
Humans
Molecular Biology/*history
Research/history

@article {pmid9336074,
year = {1997},
author = {Cabello, F and Springer, AD},
title = {[Emergent diseases: old and new diseases. Etiological and climatic aspects. Socioeconomic and cultural influences].},
journal = {Revista medica de Chile},
volume = {125},
number = {1},
pages = {74-84},
pmid = {9336074},
issn = {0034-9887},
mesh = {Chile/epidemiology ; Communicable Diseases/*epidemiology/history ; Cultural Characteristics ; Epidemiologic Factors ; History, 20th Century ; Meteorological Concepts ; Prevalence ; Socioeconomic Factors ; },
abstract = {During recent years the world has experienced the reemergence of old communicable diseases and the emergence of new ones caused by novel pathogens such as the HIV virus and Borrelia burgdorferi. The problem consists mostly in the reemergence of old diseases but specially in industrialized countries new pathogens have also been described. Although the emergence of these infections in rare instances is due to genetic changes of pathogens to more virulent forms, most commonly they are due to changes in the environment and the host. Rapidly deteriorating living standards, disintegration of sanitation and public health infrastructure, cultural changes, migration and variations in behavior are some of the factors involved in the worldwide increase of infectious diseases. The degradation of natural habitats including forests and marine niches accompanied by climatic changes, are also playing an increasing role in the detrimental evolution of these diseases. The global emergence of these diseases calls into question the doctrine of epidemiological transition and directs us to scrutinize the paradigm that bases the prevention of these diseases solely on vaccination. The current situation also highlights the limitations of classical epidemiology in dealing with unexpected problems, and strongly suggests that this discipline should incorporate into its analysis findings from other fields, including ecological, climatological, and economical information. As most of the negative social and economical developments that impinge on the detrimental evolution of these diseases are increasing world-wide, it can be predicted that the problems posed by these infections will continue and perhaps worsen in the near future.},
}

Chile/epidemiology
Communicable Diseases/*epidemiology/history
Cultural Characteristics
Epidemiologic Factors
History, 20th Century
Meteorological Concepts
Prevalence
Socioeconomic Factors

@article {pmid9463076,
year = {1997},
author = {Allen, GE},
title = {The social and economic origins of genetic determinism: a case history of the American Eugenics Movement, 1900-1940 and its lessons for today.},
journal = {Genetica},
volume = {99},
number = {2-3},
pages = {77-88},
doi = {10.1007/BF02259511},
pmid = {9463076},
issn = {0016-6707},
mesh = {Eugenics/*history ; Female ; Genetic Diseases, Inborn/economics/genetics ; Genetics, Behavioral/history ; Germany ; History, 20th Century ; Human Genome Project ; Humans ; Male ; Politics ; Social Conditions ; United Kingdom ; United States ; },
abstract = {Eugenics, the attempt to improve the genetic quality of the human species by 'better breeding', developed as a worldwide movement between 1900 and 1940. It was particularly prominent in the United States, Britain and Germany, and in those countries was based on the then-new science of Mendelian genetics. Eugenicists developed research programs to determine the degree in which traits such as Huntington's chorea, blindness, deafness, mental retardation (feeblemindedness), intelligence, alcoholism, schizophrenia, manic depression, rebelliousness, nomadism, prostitution and feeble inhibition were genetically determined. Eugenicists were also active in the political arena, lobbying in the United States for immigration restriction and compulsory sterilization laws for those deemed genetically unfit; in Britain they lobbied for incarceration of genetically unfit and in Germany for sterilization and eventually euthanasia. In all these countries one of the major arguments was that of efficiency: that it was inefficient to allow genetic defects to be multiplied and then have to try and deal with the consequences of state care for the offspring. National socialists called genetically defective individuals 'useless eaters' and argued for sterilization or euthanasia on economic grounds. Similar arguments appeared in the United States and Britain as well. At the present time (1997) much research and publicity is being given to claims about a genetic basis for all the same behaviors (alcoholism, manic depression, etc.), again in an economic context--care for people with such diseases is costing too much. There is an important lesson to learn from the past: genetic arguments are put forward to mask the true--social and economic--causes of human behavioral defects.},
}

Eugenics/*history
Female
Genetic Diseases, Inborn/economics/genetics
Genetics, Behavioral/history
Germany
History, 20th Century
Human Genome Project
Humans
Male
Politics
Social Conditions
United Kingdom
United States

@article {pmid9688189,
year = {1998},
author = {Dehner, LP},
title = {The evolution of the diagnosis and understanding of primitive and embryonic neoplasms in children: living through an epoch.},
journal = {Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc},
volume = {11},
number = {7},
pages = {669-685},
pmid = {9688189},
issn = {0893-3952},
mesh = {Child ; Forecasting ; History, 19th Century ; History, 20th Century ; Humans ; Medical Oncology/history ; Molecular Biology ; Neoplasms, Complex and Mixed/epidemiology/*history/pathology/therapy ; Neoplasms, Germ Cell and Embryonal/epidemiology/*history/pathology/therapy ; Sarcoma/history/pathology ; },
abstract = {Approximately 30% of malignant neoplasms in children are dysontogenetic tumors whose pathologic features resemble or recapitulate those of the developing organ or tissue of origin. Archetypes include classic neuroblastoma, Wilms' tumor, and embryonal rhabdomyosarcoma. This review traces the history of the principal types of dysontogenetic neoplasms and the primitive round cell tumors, Ewing's sarcoma, and peripheral primitive neuroectodermal tumor. Retinoblastoma, neuroblastoma, and Wilms' tumor were first described in the 19th century but with several different appellations than those we use today. Although some progress was made in the surgical management of Wilms' tumor during the 1940s and 1950s, most of these unique solid neoplasms of childhood were seen as essentially untreatable and inevitably fatal; surgery and perhaps irradiation were the principal therapeutic offerings. The folic acid analogue, aminopterin, was reported in 1948 as inducing the first complete but temporary remission in acute childhood leukemia. The chemotherapeutic era began shortly thereafter with effective chemotherapy in the management of Wilms' tumor with the introduction of dactinomycin. Pathologists were no longer restricted to being purveyors of the death sentence; they were now responsible for differentiating one type of primitive and embryonic neoplasm from another by using a variety of ancillary techniques, including tissue culture, electron microscopy, immunohistochemistry, and cytogenetics. Favorable or unfavorable morphologic types and subtypes of tumors were defined and, together with the pathologic staging, became incorporated into the therapeutic plan and prognostic assessment. During the past 40 years, these tumors progressed from being virtually treatment resistant to having an overall 5-year survival of 70% or greater. Through the cooperative efforts of pediatric hematologists/oncologists, pediatric surgeons, radiation therapists, and pathologists, the primitive and embryonic neoplasms of childhood are now viewed as some of the most treatable and curable of cancers.},
}

Child
Forecasting
History, 19th Century
History, 20th Century
Humans
Medical Oncology/history
Molecular Biology
Neoplasms, Complex and Mixed/epidemiology/*history/pathology/therapy
Neoplasms, Germ Cell and Embryonal/epidemiology/*history/pathology/therapy
Sarcoma/history/pathology

@article {pmid9769919,
year = {1998},
author = {Cavalli-Sforza, L},
title = {[Man and the diversity of his genome. An extraordinary phase in the history of population genetics].},
journal = {Pathologie-biologie},
volume = {46},
number = {2},
pages = {98-102},
pmid = {9769919},
issn = {0369-8114},
mesh = {Africa ; Europe ; *Genetic Variation ; Genetics, Population/*history ; *Genome, Human ; History, 20th Century ; Humans ; },
abstract = {Population genetics is almost eighty years old, but benefited only very recently from the advantages of direct DNA analysis. Nevertheless, much knowledge had already accumulated and was completely confirmed by the study of DNA markers. Major benefits of the latter came with microsatellites. It allowed to discover an error made with classical markers but even more seriously with RFLPs, because of the practically involuntary sampling of individuals almost exclusively of European origin for the detection of polymorphisms. Among other evolutionary application of microsatellites, the most attractive is their very recent use for dating population separations during the recent migration out of Africa of modern humans. They confirm the theory that this expansion was quite recent. Single nucleotide substitutions are the major material of evolution, and so far markers of this kind were rare. A new method, DHPLC, is excellent for their detection and testing. In humans it has been applied almost exclusively to the Y chromosome, and in a year it has given a completely new picture of Y chromosome genetics. Some applications of statistical methods to genetic geography of classical markers and ADN markers will show the power of the geographical approach, and therefore the need of a wide collection of population samples, as will be made possible by the HGDP (Human Genome Diversity Project).},
}

Africa
Europe
*Genetic Variation
Genetics, Population/*history
*Genome, Human
History, 20th Century
Humans

@article {pmid9806453,
year = {1998},
author = {Gulcher, J and Stefansson, K},
title = {Population genomics: laying the groundwork for genetic disease modeling and targeting.},
journal = {Clinical chemistry and laboratory medicine},
volume = {36},
number = {8},
pages = {523-527},
doi = {10.1515/CCLM.1998.089},
pmid = {9806453},
issn = {1434-6621},
mesh = {Genealogy and Heraldry ; Genetic Diseases, Inborn/*genetics ; *Genetics, Population ; *Genome ; Humans ; Iceland ; },
abstract = {The family has proven the most appropriate unit with which to study Mendelian diseases. There are, however, certain limitations on the use of the family as a fundamental unit in the study of common diseases, most of which are complex genetic diseases. The groups that are most likely to yield the genetics of complex diseases are isolated populations with strong founder effects. Therefore, access to such populations is proving to be a precious resource in the work on the genetics of common diseases. The Icelandic population is an excellent population for the study of the genetics of common diseases; it is genetically homogeneous, with founder effects for many traits, and the genealogy of the entire nation is well documented back to the founding days. Furthermore, the nature of the Icelandic national health care system facilitates the assignment of phenotypes in the search for disease genes. Decode Genetics has begun to study of the genetics of 20 of the most common diseases in the Western parts of the world. The company has placed the groundwork for the construction of an encrypted database with information on the health care of the entire nation, genealogy of the entire nation, genotyping information with high density of markers on a large part of the nation (including typing for known disease genes), and resource use in the Icelandic health care system. The plan is to build the database with approval of participating individuals as well as Icelandic government and health care officials. The database will be used to model health care as viewed in the context of genetic predisposition to the development of disease. The database will also be used in the search for drug targets in complex diseases and in the solution of pharmacogenomic problems. Basing the company in Iceland directly benefits the population in terms of employment and return on investment as well as providing the health care system with an information resource which may be used in preventive medicine and in the optimization of health care in Iceland.},
}

Genealogy and Heraldry
Genetic Diseases, Inborn/*genetics
*Genetics, Population
*Genome
Humans
Iceland

@article {pmid9853812,
year = {1998},
author = {Hammer, RE},
title = {Egg culture: the foundation.},
journal = {The International journal of developmental biology},
volume = {42},
number = {7},
pages = {833-839},
pmid = {9853812},
issn = {0214-6282},
mesh = {Animals ; Animals, Genetically Modified ; Culture Techniques/*history/methods ; *Embryonic and Fetal Development ; Fertilization in Vitro/*history/methods ; History, 20th Century ; Humans ; Ovum/*growth & development ; },
abstract = {Ralph Brinster began his classic work on egg culture more than 35 years ago. His interest in mammalian egg culture had developed, in part, as a consequence of his experiences with animal breeding and reproduction that he gained while growing up on a farm. Ralph decided early in his career that an in vitro approach to culturing eggs would provide a powerful tool with which to study the development of these cells. Beginning at the close of the 19th century, a number of investigators had performed in vitro studies on egg culture and the related area of egg transfer; however, the ability to recover and transplant eggs had reached a much higher level of perfection than had culture. Eggs of many species could be successfully transferred, but there was no reliable technique for egg culture. In 1963, Ralph reported a method for culturing eggs in microdrops of medium under oil (Brinster, 1963), which has become universally used. Two years later, he identified pyruvate as the central and essential energy source for early stages of mouse eggs (Brinster, 1965b). These two developments revolutionized in vitro studies of mammalian eggs and issued in an era of intense research activity concerning egg culture and egg manipulation. Effective formulations of culture media could now be developed to allow routine in vitro maintenance of eggs, and important parameters for these recipes were soon determined. It was quickly established that the requirement for pyruvate as an energy source exists at ovulation in many species and is already present in germ cells of the mouse fetus. The metabolic activity of the fertilized mouse egg was shown to be low and comparable to bone; however, four days later, at the blastocyst stage of development, the metabolic activity was comparable to brain. Thus, a foundation of understanding about the biology of early mammalian eggs was established between 1960 and 1970, and subsequent studies have broadened this understanding. However, the greatest impact of a simple, reliable egg culture method has been to provide the ability to perform complicated manipulative procedures on preimplantation stages of mammalian embryos. In no area has this been more important than in development of transgenic animals. All methods for generating germ line genetic modifications rely on the ability to maintain and manipulate eggs and early developmental stages in vitro without loss of developmental competence. The importance of efficient egg culture to manipulation and transgenesis is fundamental and enabling.},
}

Animals
Animals, Genetically Modified
Culture Techniques/*history/methods
*Embryonic and Fetal Development
Fertilization in Vitro/*history/methods
History, 20th Century
Humans
Ovum/*growth & development