单词 | pendred |
释义 | Pendredn. 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). < n.1960 |
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