ライフサイエンスコーパス: Pendred syndrome

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1 oss with an enlarged vestibular aqueduct and Pendred syndrome.

2 hyroid physiology and the pathophysiology of Pendred syndrome.

3 dysplasia, congenital chloride diarrhoea and Pendred syndrome.

4 l with features suggestive of a diagnosis of Pendred syndrome.

5 function, in addition to genetic mutation in Pendred syndrome.

6 tants play a key role in the pathogenesis of Pendred syndrome.

7 romic hearing loss, we compared three common Pendred syndrome allele variants (L236P, T416P and E384G

8 Mutations in this gene are responsible for Pendred syndrome and autosomal recessive non-syndromic h

9 -syndromic forms of hereditary hearing loss, Pendred syndrome and Cx26-related deafness.

10 we have identified the gene (PDS) mutated in Pendred syndrome and found three apparently deleterious

11 Multipoint analysis indicates that DFNB4 and Pendred syndrome co-localize to the same 5.5 centiMorgan

12 ional cloning of chromosome 7q31, within the Pendred syndrome critical linkage interval and encodes f

13 ne whether PDS mutations in individuals with Pendred syndrome differ functionally from PDS mutations

14 Expression of the recently cloned Pendred syndrome gene SLC26A4 or PDS has been found to b

15 ained conclusive evidence for linkage of the Pendred syndrome gene to microsatellite markers on chrom

16 The mutations associated with Pendred syndrome have complete loss of pendrin-induced c

17 Pendred syndrome is a major cause of congenital deafness

18 Pendred syndrome is a recessively inherited disorder wit

19 Pendred syndrome is an autosomal recessive disorder asso

20 Pendred syndrome is an autosomal recessive disorder char

21 These data raise the possibility that Pendred syndrome is either allelic with DFNB4 or may rep

22 The incidence of Pendred syndrome is estimated at 7.5-10/100,000, and may

23 The cause of the congenital deafness in Pendred syndrome is obscure, although a Mondini type mal

24 Pendred syndrome is the most common form of syndromic de

25 Pendred syndrome is the most common syndromal form of de

26 The availability of an inbred Pendred syndrome kindred allowed us to utilize an effici

27 o defect in thyroid iodine organification in Pendred syndrome patients has been reported.

28 mapped to chromosome 7 and the gene causing Pendred syndrome (PDS) was subsequently identified by po

29 gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss asso

30 gene mutated in the deafness/goitre disorder Pendred syndrome (PS), numerous studies have focused on

31 lling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investi

32 erogeneity for PDS mutations associated with Pendred syndrome, this study would support the use of mo

33 ial therapeutic targets for diseases such as Pendred syndrome, which arise from transport defects of

34 mutations in PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and

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