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单词 pendred
释义

Pendredn.

Brit. /ˈpɛndrᵻd/, U.S. /ˈpɛndrəd/
Origin: From a proper name. Etymon: proper name Pendred.
Etymology: < the name of Vaughan Pendred (1869–1946), English physician, who described the condition in 1896 ( Lancet 22 Aug. 532).
Medicine.
attributive, in the genitive, and with of: designating an inherited (autosomal recessive) syndrome characterized by goitre, a variable degree of impairment of thyroid hormone synthesis, and sensorineural deafness, caused by mutations in a gene encoding a protein involved in iodide transport. Also (attributive): of, relating to, or affected by this syndrome.
ΘΚΠ
the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun]
amyelia1865
amelia1872
congenital myotonia1886
myotonia congenita1887
Thomsen's disease1890
von Recklinghausen's disease1899
pseudoxanthoma1900
Werdnig–Hoffmann1903
myotonia atrophica1908
Fröhlich1909
Milroy's disease1909
Lindau disease1928
Steinert's disease1932
von Hippel–Lindau disease1932
Werner's syndrome1934
Sturge–Weber syndrome1935
gargoylism1936
Morgagni's syndrome1936
Hurler's disease1937
von Willebrand1941
Turner1942
autism1944
hypophosphatasia1948
Klinefelter1950
mucopolysaccharidosis1952
progeria1957
Pendred1960
Down's syndrome1961
Patau's syndrome1961
Marinesco–Sjögren syndrome1962
cri du chat syndrome1964
Prader–Willi syndrome1964
Noonan syndrome1965
Lesch-Nyhan syndrome1966
Wernicke–Korsakoff1966
Down1967
mannosidosis1969
mucolipidosis1970
Asperger's syndrome1971
Angelman syndrome1972
adrenoleukodystrophy1973
SCID1973
severe combined immune deficiency1973
Miller–Dieker syndrome1980
Asperger1988
Asperger's disorder1994
the world > health and disease > ill health > a disease > disorders of internal organs > disordered nutrition > [noun] > deficiency of enzymes or proteins
kwashiorkor1935
Pendred1960
1960 G. R. Fraser Deafness with Goitre (Syndrome of Pendred) (Ph.D. thesis, Univ. of London) 3 The name Pendred is suggested as a suitable eponym for this syndrome... A..study of sixty-two cases of Pendred's syndrome in forty-one sibships is described.
1966 J. B. Stanbury et al. Metabolic Basis of Inherited Dis. (ed. 2) x. 234/2 The patients with the Pendred syndrome do not have large goiters.
1970 J. F. Sotos in R. M. Goodman Genetic Disorders Man xvi. 666/1 In a few reports thyroid disease without deafness has occurred in relatives of patients with the Pendred syndrome.
1974 J. D. Maynard in R. M. Kirk et al. Surgery xii. 250 Affected children are goitrous, hypothyroid, and sometimes deaf (Pendred's syndrome after the general practitioner who reported the first family in County Durham).
1996 Nature Genetics 12 421 We have established a panel of 12 families with two or more affected individuals and used them to search for the location of the Pendred gene by linkage analysis.
2003 European Jrnl. Human Genetics 11 916 PDS mutations were present and significantly responsible in 90% of Pendred families.
This entry has been updated (OED Third Edition, September 2005; most recently modified version published online March 2022).
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n.1960
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