GENETICS / HEREDITY › GENETIC DISORDERS
|
Deaf-mutism and goitre.Lancet, 2, 532, 1896.Pendred syndrome, a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function). Subjects: ENDOCRINOLOGY › Thyroid , GENETICS / HEREDITY › GENETIC DISORDERS, OTOLOGY › Deafness |
|
On a condition of mixed premature and immature development.Med.-chir. Trans., , 80, 17-45., 1897.Hastings Gilford gave progeria its name; it was first fully reported by him in Practitioner, 1904, 73, 188-217. Digital facsimile of the 1897 paper from PubMedCentral at this link. Subjects: ENDOCRINOLOGY, GENETICS / HEREDITY › GENETIC DISORDERS, PEDIATRICS |
|
Reports to the evolution committee of the Royal Society. Reports I-V. 1902-1909.London: The Royal Society, 1902 – 1910.In 1908 Archibald Garrod delivered the Croonian Lectures at the Royal College of Physicians in London on inborn errors of metabolism. In his studies of the rare disease alkaptonuria, which affects about one in one million people, Garrod noted that over twenty-five percent of the recorded cases were the offspring of first cousins. In 1902 he consulted the pioneer English geneticist William Bateson about whether the disease might be hereditary. In a footnote to the first of his "Reports to the Evolution Committee of the Royal Society" (1902), pp. 133-134 Bateson noted Garrod's work and suggested that since first cousins are often similar genetically, Garrod's data might be best understood if one assumed alkaptonuria to be caused by a recessive gene: "In illustration of such a phenomenon we way perhaps venture to refer to the extraordinarily interesting evidence lately collected by Garrod regarding the rare condition known as "Alkaptonuria." In such persons the substance, alkapton, forms a regular constituent of the urine, giving it a deep brown colour which becomes black on exposure. The condition is exceedingly rare, and, though met with in several members of the same families, has only once been known to be directly transmitted front parent to offspring. Recently, however, Garrod has a noticed that no fewer than five families containing alkaptonuric members, more than a quarter of the recorded cases, are the offspring of unions of first cousins. In only two other families is the parentage known, one of these being the case in which the father was alkaptonuric. In the other case the parents were not related. Now there may be other accounts possible, but we note that the mating of first cousins gives exactly the conditions most likely to enable a rare and usually recessive character to show itself. If the bearer of such a gamete mates with individuals not bearing it, the character would hardly ever be seen; but first cousins will frequently be bearers of similar gametes, which may in such unions meet each other, and thus lead to the manifestation of the peculiar recessive characters in the zygote. See A. E. Garrod, 'Trans. Med. Chir. Soc.,' 1899, p. 367, and 'Lancet,' November 30, 1901." Subjects: GENETICS / HEREDITY, GENETICS / HEREDITY › GENETIC DISORDERS |
|
Mongolism. A study of the physical and mental characteristics of mongolian imbeciles. Revised by H. G. Brainerd.Baltimore, MD: Williams & Wilkins, 1928.Subjects: GENETICS / HEREDITY › GENETIC DISORDERS, GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS › Down Syndrome, WOMEN in Medicine & the Life Sciences, Publications About |
|
Osteogenesis imperfecta: A study of clinical features and heredity based on 55 Danish families comprising 180 affected members.Århus, Denmark: Universitetsforlaget, 1949.Includes a translation of Ekman’s thesis (No. 4304.1). Also gives a case reported in 1678. Subjects: GENETICS / HEREDITY › GENETIC DISORDERS, GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS › Hereditary Disorders of the Skeleton, ORTHOPEDICS › Diseases of or Injuries to Bones, Joints & Skeleton › Congenital Diseases |
|
The biology of mental defect.London: Sidgwick & Jackson, 1949.Subjects: GENETICS / HEREDITY › GENETIC DISORDERS, PSYCHIATRY |
|
Drug reactions, enzymes and biochemical genetics.J. Am. Med. Assoc., 165, 835-837., 1957.Motulsky clearly stated that inheritance might explain many individual differences in the efficacy of drugs and in the occurence of adverse drug reactions. Subjects: GENETICS / HEREDITY, GENETICS / HEREDITY › GENETIC DISORDERS, PHARMACOLOGY, PHARMACOLOGY › Pharmacogenetics |
|
Étude des chromosomes somatiques de neuf enfants mongoliens.C. R. Acad. Sci. (Paris), 248, 1721-22, 1959.Discovery of trisomy-21, cause of Down’s syndrome. With M. Gautier and R. Turpin. Subjects: GENETICS / HEREDITY › GENETIC DISORDERS |
|
Moderne problem der humangenetik.Ergeb. inn. Med. u. Kinderheilk., 12, 52-125., 1959.In this paper Vogel coined the term pharmacogenetics, as the study of the role of genetics in drug response. Subjects: GENETICS / HEREDITY, GENETICS / HEREDITY › GENETIC DISORDERS, PHARMACOLOGY, PHARMACOLOGY › Pharmacogenetics |
|
Mendelian inheritance in man; catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes.Baltimore, MD: The Johns Hopkins University Press, 1966.Last expanded printed edition: 12th edition, 3 vols., 1998. Subjects: GENETICS / HEREDITY › GENETIC DISORDERS |
|
Intrauterine diagnosis and management of genetic defects.Amer. J. Obstet. Gynec., 99, 796-807, 1967.Amniocentesis used to diagnose genetic disorders in utero. First detailed report. See also Fuchs, F., Genetic information from amniotic fluid contents. Lancet, 1960, 2, 180. "During the course of the criminal investigation, another type of fraud came to light. For a variety of reasons, some patients had arranged to be artificially inseminated with sperm provided by screened, anonymous donors arranged by [Cecil Bryan] Jacobson. In order to preserve the anonymity of the donors, Jacobson explained, he identified them in records using code numbers; only Jacobson was to know their true identities. Investigators found no evidence that any donor program actually existed. Some of Jacobson's patients who had conceived through donor insemination agreed to genetic testing. At least seven instances were identified in which Jacobson was the biological father of the patients' children, including one patient who was supposed to have been inseminated with sperm provided by her husband. DNA tests linked Jacobson to at least 15 such children, and it has been suspected that he fathered as many as 75 children by impregnating patients with his own sperm" (Wikipedia article on Cecil Jacobson, accessed 05-22-2015). Subjects: GENETICS / HEREDITY › GENETIC DISORDERS, OBSTETRICS & GYNECOLOGY › OBSTETRICS |
|
Expression of a bacterial gene in mammalian cells.Science, 209, 1422-1427, 1980.(Order of authorship in the original publication: Mulligan, Berg.) In an understated paper the authors suggested the potential of treating recessive diseases like Lesch-Nyhan syndrome by gene therapy. Subjects: BIOLOGY › MOLECULAR BIOLOGY, GENETICS / HEREDITY › GENETIC DISORDERS, GENETICS / HEREDITY › Gene Therapy / Human Gene Transfer |