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.
339 related articles for article (PubMed ID: 16504559)
21. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Inoue K; Tanabe Y; Lupski JR Ann Neurol; 1999 Sep; 46(3):313-8. PubMed ID: 10482261 [TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. SOX10 mutation with peripheral amyelination and developmental disturbance of axons. Parthey K; Kornhuber M; Kunze C; Wand D; Nolte KW; Nikolin S; Weis J; Schröder JM Muscle Nerve; 2012 Feb; 45(2):284-90. PubMed ID: 22246888 [TBL] [Abstract][Full Text] [Related]
25. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Southard-Smith EM; Kos L; Pavan WJ Nat Genet; 1998 Jan; 18(1):60-4. PubMed ID: 9425902 [TBL] [Abstract][Full Text] [Related]
26. Chick sox10, a transcription factor expressed in both early neural crest cells and central nervous system. Cheng Y; Cheung M; Abu-Elmagd MM; Orme A; Scotting PJ Brain Res Dev Brain Res; 2000 Jun; 121(2):233-41. PubMed ID: 10876038 [TBL] [Abstract][Full Text] [Related]
27. Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease. Truch K; Arter J; Turnescu T; Weider M; Hartwig AC; Tamm ER; Sock E; Wegner M Hum Mol Genet; 2018 Mar; 27(6):1078-1092. PubMed ID: 29361054 [TBL] [Abstract][Full Text] [Related]
28. SOX10: 20 years of phenotypic plurality and current understanding of its developmental function. Pingault V; Zerad L; Bertani-Torres W; Bondurand N J Med Genet; 2022 Feb; 59(2):105-114. PubMed ID: 34667088 [TBL] [Abstract][Full Text] [Related]
29. Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. Sham MH; Lui VC; Chen BL; Fu M; Tam PK J Med Genet; 2001 Sep; 38(9):E30. PubMed ID: 11546831 [No Abstract] [Full Text] [Related]
30. Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. Chaoui A; Watanabe Y; Touraine R; Baral V; Goossens M; Pingault V; Bondurand N Hum Mutat; 2011 Dec; 32(12):1436-49. PubMed ID: 21898658 [TBL] [Abstract][Full Text] [Related]
31. 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]
32. A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis. Unzicker A; Pingault V; Meyer T; Rauthe S; Schütz A; Kunzmann S Eur J Pediatr; 2011 Nov; 170(11):1475-80. PubMed ID: 21822601 [TBL] [Abstract][Full Text] [Related]
33. 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]
34. Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report. Zardadi S; Rayat S; Doabsari MH; Alishiri A; Keramatipour M; Shahri ZJ; Morovvati S BMC Pediatr; 2021 Feb; 21(1):70. PubMed ID: 33557787 [TBL] [Abstract][Full Text] [Related]
35. Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation. Pingault V; Guiochon-Mantel A; Bondurand N; Faure C; Lacroix C; Lyonnet S; Goossens M; Landrieu P Ann Neurol; 2000 Oct; 48(4):671-6. PubMed ID: 11026454 [TBL] [Abstract][Full Text] [Related]
36. Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome. Arimoto Y; Namba K; Nakano A; Matsunaga T Gene; 2014 May; 540(2):258-62. PubMed ID: 24582978 [TBL] [Abstract][Full Text] [Related]
37. SOX10 structure-function analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies. Cossais F; Wahlbuhl M; Kriesch J; Wegner M Hum Mol Genet; 2010 Jun; 19(12):2409-20. PubMed ID: 20308050 [TBL] [Abstract][Full Text] [Related]
38. A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy. Matsuda N; Ootsuki K; Kobayashi S; Nemoto A; Kubo H; Usami SI; Kanani K BMC Neurol; 2021 Jun; 21(1):243. PubMed ID: 34171997 [TBL] [Abstract][Full Text] [Related]
39. Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease. Cantrell VA; Owens SE; Chandler RL; Airey DC; Bradley KM; Smith JR; Southard-Smith EM Hum Mol Genet; 2004 Oct; 13(19):2289-301. PubMed ID: 15294878 [TBL] [Abstract][Full Text] [Related]
40. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Bondurand N; Pingault V; Goerich DE; Lemort N; Sock E; Le Caignec C; Wegner M; Goossens M Hum Mol Genet; 2000 Aug; 9(13):1907-17. PubMed ID: 10942418 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]