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There are 2365 results for: content related to: A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

  1. Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1436–1449, Asma Chaoui, Yuli Watanabe, Renaud Touraine, Viviane Baral, Michel Goossens, Veronique Pingault and Nadege Bondurand

    Version of Record online : 19 SEP 2011, DOI: 10.1002/humu.21583

  2. You have free access to this content
    Sox proteins in melanocyte development and melanoma

    Pigment Cell & Melanoma Research

    Volume 23, Issue 4, August 2010, Pages: 496–513, Melissa L. Harris, Laura L. Baxter, Stacie K. Loftus and William J. Pavan

    Version of Record online : 22 APR 2010, DOI: 10.1111/j.1755-148X.2010.00711.x

  3. Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation

    Journal of Cellular Biochemistry

    Volume 90, Issue 3, 15 October 2003, Pages: 573–585, Kwok Keung Chan, Corinne Kung Yen Wong, Vincent Chi Hang Lui, Paul Kwong Hang Tam and Mai Har Sham

    Version of Record online : 17 SEP 2003, DOI: 10.1002/jcb.10656

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    SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells

    The FEBS Journal

    Volume 273, Issue 8, April 2006, Pages: 1805–1820, Satoru Yokoyama, Kazuhisa Takeda and Shigeki Shibahara

    Version of Record online : 31 MAR 2006, DOI: 10.1111/j.1742-4658.2006.05200.x

  5. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2296–2302, Antonio Viñuela, Matías Morín, Manuela Villamar, Constantino Morera, M. José Lavilla, Laura Cavallé, Miguel A. Moreno-Pelayo, Felipe Moreno and Ignacio del Castillo

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33026

  6. An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 303–307, Laure Lecerf, Anthula Kavo, Macarena Ruiz-Ferrer, Viviane Baral, Yuli Watanabe, Asma Chaoui, Veronique Pingault, Salud Borrego and Nadege Bondurand

    Version of Record online : 8 JAN 2014, DOI: 10.1002/humu.22499

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    Distant regulatory elements in a Sox10-βGEO BAC transgene are required for expression of Sox10 in the enteric nervous system and other neural crest-derived tissues

    Developmental Dynamics

    Volume 235, Issue 5, May 2006, Pages: 1413–1432, Karen K. Deal, V. Ashley Cantrell, Ronald L. Chandler, Thomas L. Saunders, Douglas P. Mortlock and E. Michelle Southard-Smith

    Version of Record online : 3 APR 2006, DOI: 10.1002/dvdy.20769

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    Review and update of mutations causing Waardenburg syndrome

    Human Mutation

    Volume 31, Issue 4, April 2010, Pages: 391–406, Véronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, Michel Goossens, Sandrine Marlin and Nadège Bondurand

    Version of Record online : 2 FEB 2010, DOI: 10.1002/humu.21211

  9. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1512–1519, Brezo Jelena, Lam Christina, Vilain Eric and Quintero-Rivera Fabiola

    Version of Record online : 8 APR 2014, DOI: 10.1002/ajmg.a.36446

  10. SOX10 mutations mimic isolated hearing loss

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 352–359, V. Pingault, E. Faubert, V. Baral, S. Gherbi, N. Loundon, V. Couloigner, F. Denoyelle, N. Noël-Pétroff, H. Ducou Le Pointe, M. Elmaleh-Bergès, N. Bondurand and S. Marlin

    Version of Record online : 6 NOV 2014, DOI: 10.1111/cge.12506

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

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1038–1041, Yves Sznajer, Cristina Coldéa, Françoise Meire, Isabelle Delpierre, Tayeb Sekhara and Renaud L. Touraine

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32247

  12. Hirschsprung disease: a developmental disorder of the enteric nervous system

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 2, Issue 1, January/February 2013, Pages: 113–129, Sonja J. McKeown, Lincon Stamp, Marlene M. Hao and Heather M. Young

    Version of Record online : 24 APR 2012, DOI: 10.1002/wdev.57

  13. Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation

    Journal of the Peripheral Nervous System

    Volume 22, Issue 3, September 2017, Pages: 219–223, Petya Bogdanova-Mihaylova, Michael D. Alexander, Raymond P. J. Murphy and Sinéad M. Murphy

    Version of Record online : 5 SEP 2017, DOI: 10.1111/jns.12221

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

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 542–547, Raquel M. Fernández, Raquel Núñez-Ramos, Mª Valle Enguix-Riego, Francisco José Román-Rodríguez, Enrique Galán-Gómez, Emilio Blesa-Sánchez, Guillermo Antiñolo, Ramón Núñez-Núñez and Salud Borrego

    Version of Record online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36302

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    Secrets to a healthy Sox life: lessons for melanocytes

    Pigment Cell Research

    Volume 18, Issue 2, April 2005, Pages: 74–85, Michael Wegner

    Version of Record online : 22 FEB 2005, DOI: 10.1111/j.1600-0749.2005.00218.x

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    Advances in Molecular Genetics of Hirschsprung's Disease

    The Anatomical Record

    Volume 295, Issue 10, October 2012, Pages: 1628–1638, Zhi-Wen Pan and Ji-Cheng Li

    Version of Record online : 19 JUL 2012, DOI: 10.1002/ar.22538

  17. SOX10 mutation in Waardenburg syndrome type II

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2162–2163, Manami Iso, Maki Fukami, Reiko Horikawa, Noriyuki Azuma, Nobuko Kawashiro and Tsutomu Ogata

    Version of Record online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32403

  18. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

    Human Mutation

    Volume 38, Issue 5, May 2017, Pages: 581–593, Sarah Issa, Nadege Bondurand, Emmanuelle Faubert, Sylvain Poisson, Laure Lecerf, Patrick Nitschke, Naima Deggouj, Natalie Loundon, Laurence Jonard, Albert David, Yves Sznajer, Patricia Blanchet, Sandrine Marlin and Veronique Pingault

    Version of Record online : 15 MAR 2017, DOI: 10.1002/humu.23206

  19. Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2344–2350, Veronique Pingault, Laurence Pierre-Louis, Asma Chaoui, Alain Verloes, Elisabeth Sarrazin, Goran Brandberg, Nadege Bondurand, Peter Uldall and Sylvie Manouvrier-Hanu

    Version of Record online : 20 MAY 2014, DOI: 10.1002/ajmg.a.36612

  20. Hearing loss in Waardenburg syndrome: a systematic review

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 416–425, J. Song, Y. Feng, F.R. Acke, P. Coucke, K. Vleminckx and I.J. Dhooge

    Version of Record online : 17 JUL 2015, DOI: 10.1111/cge.12631