These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 16237557)

  • 1. Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.
    Sangkhathat S; Chiengkriwate P; Kusafuka T; Patrapinyokul S; Fukuzawa M
    Pediatr Surg Int; 2005 Dec; 21(12):960-3. PubMed ID: 16237557
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
    Pingault V; Bondurand N; Lemort N; Sancandi M; Ceccherini I; Hugot JP; Jouk PS; Goossens M
    J Med Genet; 2001 Mar; 38(3):205-9. PubMed ID: 11303518
    [No Abstract]   [Full Text] [Related]  

  • 3. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
    Syrris P; Carter ND; Patton MA
    Am J Med Genet; 1999 Nov; 87(1):69-71. PubMed ID: 10528251
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.
    Tüysüz B; Collin A; Arapoğlu M; Suyugül N
    Am J Med Genet A; 2009 Oct; 149A(10):2290-5. PubMed ID: 19764031
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.
    Matsushima Y; Shinkai Y; Kobayashi Y; Sakamoto M; Kunieda T; Tachibana M
    Mamm Genome; 2002 Jan; 13(1):30-5. PubMed ID: 11773966
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
    Jabeen R; Babar ME; Ahmad J; Awan AR
    Mol Biol Rep; 2012 Jan; 39(1):785-8. PubMed ID: 21547364
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease.
    Kusafuka T; Puri P
    Pediatr Surg Int; 1997; 12(1):19-23. PubMed ID: 9035203
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.
    Loupe J; Sampath S; Lacassie Y
    Eur J Med Genet; 2014 Oct; 57(10):562-6. PubMed ID: 25118007
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.
    Wang X; Lin XJ; Tang X; Chai YC; Yu DH; Chen DY; Wu H
    Int J Pediatr Otorhinolaryngol; 2017 Nov; 102():114-118. PubMed ID: 29106856
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
    Verheij JB; Kunze J; Osinga J; van Essen AJ; Hofstra RM
    Am J Med Genet; 2002 Mar; 108(3):223-5. PubMed ID: 11891690
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.
    Morimoto N; Mutai H; Namba K; Kaneko H; Kosaki R; Matsunaga T
    Auris Nasus Larynx; 2018 Apr; 45(2):222-226. PubMed ID: 28502583
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
    Hofstra RM; Osinga J; Tan-Sindhunata G; Wu Y; Kamsteeg EJ; Stulp RP; van Ravenswaaij-Arts C; Majoor-Krakauer D; Angrist M; Chakravarti A; Meijers C; Buys CH
    Nat Genet; 1996 Apr; 12(4):445-7. PubMed ID: 8630503
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A homozygous MITF mutation leads to familial Waardenburg syndrome type 4.
    Pang X; Zheng X; Kong X; Chai Y; Wang Y; Qian H; Yang B; Wu C; Chu J; Yang T
    Am J Med Genet A; 2019 Feb; 179(2):243-248. PubMed ID: 30549420
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.
    Dang R; Torigoe D; Suzuki S; Kikkawa Y; Moritoh K; Sasaki N; Agui T
    PLoS One; 2011; 6(9):e24086. PubMed ID: 21915282
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.
    Liang F; Zhao M; Fan L; Zhang H; Shi Y; Han R; Qu C
    Int J Pediatr Otorhinolaryngol; 2016 Dec; 91():67-71. PubMed ID: 27863645
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
    Jalilian N; Tabatabaiefar MA; Alimadadi H; Noori-Daloii MR
    Int J Pediatr Otorhinolaryngol; 2017 May; 96():122-126. PubMed ID: 28390600
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
    Attié T; Till M; Pelet A; Amiel J; Edery P; Boutrand L; Munnich A; Lyonnet S
    Hum Mol Genet; 1995 Dec; 4(12):2407-9. PubMed ID: 8634719
    [No Abstract]   [Full Text] [Related]  

  • 20. Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.
    Cui L; Wong EH; Cheng G; Firmato de Almeida M; So MT; Sham PC; Cherny SS; Tam PK; Garcia-Barceló MM
    PLoS One; 2013; 8(6):e66631. PubMed ID: 23840513
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.