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Garrison-Morton-Norman History of Medicine

GENETIC DISORDERS

Exhibiting 36 entries found in the GMN corpus.

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YearTitle & TagsAuthor(s)
1876 CEA case of haemophilia complicated with multiple naevi.
LEGG, John Wickham (1843 – 1921)
1886 CECongenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six.
HUTCHINSON, Sir Jonathan (1828 – 1913)
HUTCHINSON, Sir Jonathan (1828 – 1913)
2011 CECorrection of the 508del-CFTR protein processing defect in vitro by the investigational drug VX-809.
NEGULESCU, Paul A. VAN GOOR, Frederick HADIDA, Sabine GROOTENHUIS, Peter D. J. (1960 – 2019) & et al.
1938 CECystic fibrosis of the pancreas and its relation to celiac disease: A clinical and pathological study.
ANDERSEN, Dorothy Hansine (1901 – 1963)
ANDERSEN, Dorothy Hansine (1901 – 1963)
1936 CEDas Coeliakiesyndrom bei angeborener zysticher Pankreasfibromatose und Bronchiektasien.
FANCONI, Guido (1892 – 1979)
FANCONI, Guido (1892 – 1979) & et al.
1831 CEDe la rétraction des doigts par suite d’une affection de l’aponévrose palmaire, opération chirurgicale qui convient dans ce cas.
DUPUYTREN, Guillaume, Le Baron (1777 – 1835)
DUPUYTREN, Guillaume, Le Baron (1777 – 1835)
1896 CEDeaf-mutism and goitre.
PENDRED, Vaughan (1869 – 1946)
1957 CEDrug reactions, enzymes and biochemical genetics.
MOTULKSY, Arno G. (1923 – 2018)
1896 CEEpistaxis répété chez un sujet porteur de petits angiomes cutanés et muqueux.
RENDU, Henri Jules Louis (1844 – 1902)
RENDU, Henri Jules Louis (1844 – 1902)
1959 CEÉtude des chromosomes somatiques de neuf enfants mongoliens.
LEJEUNE, Jérôme (1926 – 1994)
1980 CEExpression of a bacterial gene in mammalian cells.
BERG, Paul (1926 – )
BERG, Paul (1926 – ) MULLIGAN, Richard C. (1954 – )
1865 CEHereditary epistaxis.
BABINGTON, Benjamin Guy (1794 – 1866)
BABINGTON, Benjamin Guy (1794 – 1866)
1989 CEIdentification of the cystic fibrosis gene: Chromosome walking and jumping.
ROMMENS, Johanna M. IANNUZZI, Michael C. RIORDAN, John Richard (1943 – )
COLLINS, Francis Sellers (1950 – )
COLLINS, Francis Sellers (1950 – )
TSUI, Lap-Chee (1950 – )
TSUI, Lap-Chee (1950 – ) & et al.
1989 CEIdentification of the cystic fibrosis gene: Cloning and characterization of complimentary DNA.
ROMMENS, Johanna M. RIORDAN, John Richard (1943 – )
COLLINS, Francis Sellers (1950 – )
COLLINS, Francis Sellers (1950 – )
TSUI, Lap-Chee (1950 – )
TSUI, Lap-Chee (1950 – ) & et al.
1989 CEIdentification of the cystic fibrosis gene: Genetic analysis.
ROMMENS, Johanna M.
TSUI, Lap-Chee (1950 – )
TSUI, Lap-Chee (1950 – ) KEREM, Batsheva (1955 – ) & et al.
2021 CEIn vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.
LIU, David Ruchien (1973 – )
LIU, David Ruchien (1973 – )
COLLINS, Francis Sellers (1950 – )
COLLINS, Francis Sellers (1950 – ) KOBLAN, Luke W. ERDOS, Michael R. WILSON, Christopher & et al.
1967 CEIntrauterine diagnosis and management of genetic defects.
JACOBSON, Cecil Bryan (1936 – ) BARTER, Robert Henry (1913 – 1999)
1966 CEMendelian inheritance in man; catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes.
MCKUSICK, Victor Almon (1921 – 2008)
MCKUSICK, Victor Almon (1921 – 2008)
1959 CEModerne problem der humangenetik.
VOGEL, Friedrich Otto (1925 – 2006)
VOGEL, Friedrich Otto (1925 – 2006)
1928 CEMongolism. A study of the physical and mental characteristics of mongolian imbeciles. Revised by H. G. Brainerd.
BROUSSEAU, Kate ( – 1938)
BROUSSEAU, Kate ( – 1938)
1907 CEMultiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages.
WEBER, Frederick Parkes (1863 – 1962)
WEBER, Frederick Parkes (1863 – 1962)
1614 CEObservationum in hominis affectibus plerisque, corpori & animo, functionum laesione, dolore, aliave molestia & vitio incommodantibus, libri tres.
PLATER, Felix [PLATTER] (1536 – 1614)
1897 CEOn a condition of mixed premature and immature development.
GILFORD, Hastings (1861 – 1941)
1901 CEOn a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes.
OSLER, Sir William (1849 – 1919)
OSLER, Sir William (1849 – 1919)
1949 CEOsteogenesis imperfecta: A study of clinical features and heredity based on 55 Danish families comprising 180 affected members.
SEEDORFF, Knud Stakemann (1915 – 1991)
2003 CERecurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
COLLINS, Francis Sellers (1950 – )
COLLINS, Francis Sellers (1950 – )
ERIKSSON, Maria
ERIKSSON, Maria
BROWN, William Ted
BROWN, William Ted GORDON, Leslie Beth & et al.
1963 CERecurrent Dupuytren's contracture.
HUESTON, John (1926 – 1993)
1902 CE​–1910 CEReports to the evolution committee of the Royal Society. Reports I-V. 1902-1909.
BATESON, William (1861 – 1926)
BATESON, William (1861 – 1926) PUNNETT, Reginald Crundall (1875 – 1967)
SAUNDERS, Edith Rebecca (1865 – 1945)
SAUNDERS, Edith Rebecca (1865 – 1945)
1949 CEThe biology of mental defect.
PENROSE, Lionel Sharples (1898 – 1972)
1972 CEThe palmar fascia.
STACK, H. Graham
STACK, H. Graham
2013 CEThe PKU paradox: A short history of a genetic disease.
PAUL, Diane B. BROSCO, Jeffrey P.
1931 CEUeber Arachnodaktylie (Dystrophia mesodermalis congenita, Typus Marfan).
WEVE, Henricus Jacobus Marie (1888 – 1962)
1919 CEUeber einen Typ multipier Abartungen, vorwiegend am Sklettsystem.
HURLER, Gertrud (1889 – 1965)
1896 CEUn cas de déformation congénitale des quatre membres, plus prononcée aux extrémités, charactérisée par l’allongement des os avec un certain degré d’amincissement.
MARFAN, Antoine Bernard-Jean (1858 – 1942)
MARFAN, Antoine Bernard-Jean (1858 – 1942)
1934 CEUtskillelse av fenylpyrodruesyre i urinen som stoffskifteanomali i forbindelse med imbecilletet.
FØLLING, Ivar Asbjørn (1888 – 1973)
1933 CEZur Pathogenese der Bronchiektasien. I. Mitteilung: Bronchiektasien bei Situs viscerum inversus.
KARTAGENER, Manes (1897 – 1975)