148 related articles for article (PubMed ID: 8634719)
41. [Genetics of Hirschsprung disease].
Attié T; Salomon R; Amiel J; Edery P; Pelet A; Nihoul-Fékété C; Munnich A; Lyonnet S
C R Seances Soc Biol Fil; 1996; 190(5-6):549-56. PubMed ID: 9074720
[TBL] [Abstract][Full Text] [Related]
42. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
Bidaud C; Salomon R; Van Camp G; Pelet A; Attié T; Eng C; Bonduelle M; Amiel J; Nihoul-Fékété C; Willems PJ; Munnich A; Lyonnet S
Eur J Hum Genet; 1997; 5(4):247-51. PubMed ID: 9359047
[TBL] [Abstract][Full Text] [Related]
43. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
Verheij JB; Sival DA; van der Hoeven JH; Vos YJ; Meiners LC; Brouwer OF; van Essen AJ
Eur J Paediatr Neurol; 2006 Jan; 10(1):11-7. PubMed ID: 16504559
[TBL] [Abstract][Full Text] [Related]
44. Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome.
Shim WK; Derieg M; Powell BR; Hsia YE
J Pediatr Surg; 1999 Dec; 34(12):1853-5. PubMed ID: 10626872
[TBL] [Abstract][Full Text] [Related]
45. Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.
Fuchs S; Amiel J; Claudel S; Lyonnet S; Corvol P; Pinet F
Mol Med; 2001 Feb; 7(2):115-24. PubMed ID: 11471546
[TBL] [Abstract][Full Text] [Related]
46. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.
Shah KN; Dalal SJ; Desai MP; Sheth PN; Joshi NC; Ambani LM
J Pediatr; 1981 Sep; 99(3):432-5. PubMed ID: 7264803
[No Abstract] [Full Text] [Related]
47. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Issa S; Bondurand N; Faubert E; Poisson S; Lecerf L; Nitschke P; Deggouj N; Loundon N; Jonard L; David A; Sznajer Y; Blanchet P; Marlin S; Pingault V
Hum Mutat; 2017 May; 38(5):581-593. PubMed ID: 28236341
[TBL] [Abstract][Full Text] [Related]
48. [Endothelin B receptor system and Hirschsprung disease].
Inoue M; Kusafuka T; Okada A
Nihon Rinsho; 1998 Jul; 56(7):1876-80. PubMed ID: 9702069
[TBL] [Abstract][Full Text] [Related]
49. SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Pingault V; Bondurand N; Kuhlbrodt K; Goerich DE; Préhu MO; Puliti A; Herbarth B; Hermans-Borgmeyer I; Legius E; Matthijs G; Amiel J; Lyonnet S; Ceccherini I; Romeo G; Smith JC; Read AP; Wegner M; Goossens M
Nat Genet; 1998 Feb; 18(2):171-3. PubMed ID: 9462749
[TBL] [Abstract][Full Text] [Related]
50. Waardenburg syndrome.
De Laey JJ; Meire F; Standaert L; Zeng LH
Yan Ke Xue Bao; 1987 Mar; 3(1):10-5. PubMed ID: 3149590
[No Abstract] [Full Text] [Related]
51. Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4.
Bergeron KF; Nguyen CM; Cardinal T; Charrier B; Silversides DW; Pilon N
Dis Model Mech; 2016 Nov; 9(11):1283-1293. PubMed ID: 27585883
[TBL] [Abstract][Full Text] [Related]
52. A deletion in the endothelin-B receptor gene is responsible for the Waardenburg syndrome-like phenotypes of WS4 mice.
Ohtani S; Shinkai Y; Horibe A; Katayama K; Tsuji T; Matsushima Y; Tachibana M; Kunieda T
Exp Anim; 2006 Oct; 55(5):491-5. PubMed ID: 17090968
[TBL] [Abstract][Full Text] [Related]
53. A recalcitrant case of Jacquet erosive diaper dermatitis after surgery for Hirschsprung disease in a boy with Waardenburg-Shah syndrome.
Babuna Kobaner G; Sun GP; Ozkaya E
Dermatol Online J; 2018 Jun; 24(6):. PubMed ID: 30142718
[TBL] [Abstract][Full Text] [Related]
54. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.
Hofstra RM; Osinga J; Buys CH
Eur J Hum Genet; 1997; 5(4):180-5. PubMed ID: 9359036
[TBL] [Abstract][Full Text] [Related]
55. Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.
Ceccherini I; Zhang AL; Matera I; Yang G; Devoto M; Romeo G; Cass DT
Hum Mol Genet; 1995 Nov; 4(11):2089-96. PubMed ID: 8589685
[TBL] [Abstract][Full Text] [Related]
56. A novel stop mutation in the EDNRB gene in a family with Hirschsprung's disease associated with multiple sclerosis.
Granström AL; Markljung E; Fink K; Nordenskjöld E; Nilsson D; Wester T; Nordenskjöld A
J Pediatr Surg; 2014 Apr; 49(4):622-5. PubMed ID: 24726125
[TBL] [Abstract][Full Text] [Related]
57. Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.
Toki F; Suzuki N; Inoue K; Suzuki M; Hirakata K; Nagai K; Kuroiwa M; Lupski JR; Tsuchida Y
Pediatr Surg Int; 2003 Dec; 19(11):725-8. PubMed ID: 14691634
[TBL] [Abstract][Full Text] [Related]
58. [Clinical and genetic investigation of families with Waardenburg syndrome type 2].
Chen HS; Liao XB; Liu YL; He CF; Zhang H; Jiang L; Feng Y; Mei LY
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Dec; 30(24):1946-1949. PubMed ID: 29798271
[No Abstract] [Full Text] [Related]
59. Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene.
Oshimo T; Fukai K; Abe Y; Hozumi Y; Yokoi T; Tanaka A; Yamanishi K; Ishii M; Suzuki T
J Dermatol; 2012 Dec; 39(12):1022-5. PubMed ID: 22963253
[TBL] [Abstract][Full Text] [Related]
60. A polymorphic (GA)n microsatellite in an intron of the canine endothelin-B receptor gene.
Liu PC; Chen YW; Shibuya H; Katz ML; Lubahn DB; Johnson GS
Anim Genet; 1998 Jun; 29(3):236. PubMed ID: 9720185
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
