ライフサイエンスコーパス: Waardenburg syndrome

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1 to the understanding of the pathogenesis of Waardenburg syndrome.

2 in neural crest disorders in humans such as Waardenburg syndrome.

3 for the human auditory-pigmentation disorder Waardenburg syndrome.

4 r, like MITF, results in a disorder known as Waardenburg Syndrome.

5 e forelock phenotype similar to that seen in Waardenburg syndrome.

6 hensive mutation screen for individuals with Waardenburg syndrome.

7 port syndrome and the PAX3 and MITF genes in Waardenburg syndrome.

8 of the transcriptional pathways affected in Waardenburg syndromes.

9 for the neural crest defects associated with Waardenburg syndrome, among others.

10 function underlies many disorders including Waardenburg syndrome and melanoma.

11 ultiple phenotypic disease) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is kn

12 In people, PAX3 mutation causes Waardenburg syndrome, and murine Pax3 is essential for p

13 Hirschsprung disease and Waardenburg syndrome are human genetic diseases characte

14 Waardenburg syndromes are characterized by pigmentation

15 to the molecular mechanisms by which certain Waardenburg syndrome-associated missense mutations could

16 gastrointestinal motility disorders, whereas Waardenburg syndrome consists of defective melanocyte fu

17 ons responsible for Hirschsprung disease and Waardenburg syndrome have been identified, and some pati

18 genes have been identified as causative for Waardenburg syndrome; however, the genetic bases for all

19 factor for which deficiency in humans causes Waardenburg syndrome II.

20 the human melanocyte and deafness condition Waardenburg syndrome is sometimes caused by haploinsuffi

21 nstrate that PAX3, which is often mutated in Waardenburg syndrome, is required for normal enteric gan

22 e that the dominant melanophore phenotype in Waardenburg syndrome IV individuals with SOX10 mutations

23 Waardenburg syndrome manifests hypopigmentation of the i

24 One example is Waardenburg syndrome that can be caused by mutations in

25 horum, one of the key diagnostic features of Waardenburg syndrome type 1 (WS1).

26 Waardenburg syndrome type 1 is caused by mutations in PA

27 Waardenburg syndrome type 2 (WS2) is a dominantly inheri

28 Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in

29 (microphthalmia transcription factor) cause Waardenburg syndrome type 2 (WS2A) in humans, an autosom

30 The deafness-pigmentary disorder Waardenburg Syndrome Type 2 is caused by mutations in th

31 MITF mutations occur in patients with Waardenburg syndrome type 2, a disorder associated with

32 tion with hypopigmentation are classified as Waardenburg syndrome type 4 (Waardenburg-Shah, WS4).

33 Mutations in SOX10 result in Waardenburg syndrome type 4.

34 utations in SOX10 result in a severe form of Waardenburg syndrome, Type IV, also known as Waardenburg

35 such as in neural crest-derived cancers and Waardenburg syndrome types 1 and 3.

36 Mutations in PAX3 cause Waardenburg syndrome (types 1 and 3), Craniofacial-deafn

37 Waardenburg syndrome typically manifests with congenital

38 Family history of Waardenburg syndrome was elicited in 5 of 7 (71%) patien

39 In all patients, the diagnosis of Waardenburg syndrome was established.

40 In humans, mutations in the PAX3 gene cause Waardenburg syndrome, whereas a chromosomal translocatio

41 Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentar

42 sociated with the pigmentary deficiencies of Waardenburg syndrome (WS) and is modeled in Sox10 haploi

43 cordance of a pair of monozygotic twins with Waardenburg syndrome (WS) and previous reports of simila

44 Waardenburg syndrome (WS) is a clinically and geneticall

45 Waardenburg syndrome (WS) is a hereditary disorder that

46 Mutations in PAX3 are associated with Waardenburg syndrome (WS), but the mechanism of how muta

47 ges in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1) including three in the paired

48 iency results in the mouse splotch and human Waardenburg syndrome (WSI and WSIII) phenotypes.

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