Similar articles for PMID: 18348267

Year	Number of Results
1995	1
1997	1
1998	6
1999	3
2000	9
2001	8
2002	8
2003	7
2004	2
2005	3
2006	4
2007	3
2008	6
2009	3
2010	1
2011	3
2012	4
2013	4
2014	8
2015	6
2016	4
2017	7
2018	6
2019	1
2020	12
2021	6
2022	5
2024	0

1

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

Sznajer Y, Coldéa C, Meire F, Delpierre I, Sekhara T, Touraine RL. Sznajer Y, et al. Am J Med Genet A. 2008 Apr 15;146A(8):1038-41. doi: 10.1002/ajmg.a.32247. Am J Med Genet A. 2008. PMID: 18348267

2

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. Verheij JB, et al. Eur J Paediatr Neurol. 2006 Jan;10(1):11-7. doi: 10.1016/j.ejpn.2005.10.004. Epub 2006 Feb 28. Eur J Paediatr Neurol. 2006. PMID: 16504559

3

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S. Touraine RL, et al. Am J Hum Genet. 2000 May;66(5):1496-503. doi: 10.1086/302895. Epub 2000 Apr 4. Am J Hum Genet. 2000. PMID: 10762540 Free PMC article.

4

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.

Morín M, Viñuela A, Rivera T, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. Morín M, et al. Am J Med Genet A. 2008 Apr 15;146A(8):1032-7. doi: 10.1002/ajmg.a.32181. Am J Med Genet A. 2008. PMID: 18348274 No abstract available.

5

Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.

Sham MH, Lui VC, Chen BL, Fu M, Tam PK. Sham MH, et al. J Med Genet. 2001 Sep;38(9):E30. doi: 10.1136/jmg.38.9.e30. J Med Genet. 2001. PMID: 11546831 Free PMC article. No abstract available.

6

Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

Fernández RM, Núñez-Ramos R, Enguix-Riego MV, Román-Rodríguez FJ, Galán-Gómez E, Blesa-Sánchez E, Antiñolo G, Núñez-Núñez R, Borrego S. Fernández RM, et al. Am J Med Genet A. 2014 Feb;164A(2):542-7. doi: 10.1002/ajmg.a.36302. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311220

7

Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients.

Kuhlbrodt K, Schmidt C, Sock E, Pingault V, Bondurand N, Goossens M, Wegner M. Kuhlbrodt K, et al. J Biol Chem. 1998 Sep 4;273(36):23033-8. doi: 10.1074/jbc.273.36.23033. J Biol Chem. 1998. PMID: 9722528 Free article.

8

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

Burke EA, Reichard KE, Wolfe LA, Brooks BP, DiGiovanna JJ, Hadley DW, Lehky TJ, Gropman AL, Tifft CJ, Gahl WA, Toro C, Adams D. Burke EA, et al. Am J Med Genet A. 2020 May;182(5):1278-1283. doi: 10.1002/ajmg.a.61542. Epub 2020 Mar 9. Am J Med Genet A. 2020. PMID: 32150337 Free PMC article.

9

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Bondurand N, et al. Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22. Am J Hum Genet. 2007. PMID: 17999358 Free PMC article.

10

Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret.

Lang D, Chen F, Milewski R, Li J, Lu MM, Epstein JA. Lang D, et al. J Clin Invest. 2000 Oct;106(8):963-71. doi: 10.1172/JCI10828. J Clin Invest. 2000. PMID: 11032856 Free PMC article.

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