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There are 7542 results for: content related to: Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation

  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

    Article first published online : 19 SEP 2011, DOI: 10.1002/humu.21583

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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

    Article first published online : 2 FEB 2010, DOI: 10.1002/humu.21211

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

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1032–1037, Matías Morín, Antonio Viñuela, Teresa Rivera, Manuela Villamar, Miguel A. Moreno-Pelayo, Felipe Moreno and Ignacio del Castillo

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32181

  4. SOX10 mutations mimic isolated hearing loss

    Clinical Genetics

    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

    Article first published online : 6 NOV 2014, DOI: 10.1111/cge.12506

  5. 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

    Article first published online : 17 SEP 2003, DOI: 10.1002/jcb.10656

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    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

    Article first published online : 22 APR 2010, DOI: 10.1111/j.1755-148X.2010.00711.x

  7. Sorting out Sox10 functions in neural crest development

    BioEssays

    Volume 28, Issue 8, August 2006, Pages: 788–798, Robert N. Kelsh

    Article first published online : 22 AUG 2006, DOI: 10.1002/bies.20445

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    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

    Article first published online : 8 JAN 2014, DOI: 10.1002/humu.22499

  9. 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

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32247

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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

    Article first published online : 3 APR 2006, DOI: 10.1002/dvdy.20769

  11. 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

    Article first published online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33026

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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

    Article first published online : 22 FEB 2005, DOI: 10.1111/j.1600-0749.2005.00218.x

  13. 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

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32403

  14. 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

    Article first published online : 20 MAY 2014, DOI: 10.1002/ajmg.a.36612

  15. 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

    Article first published online : 8 APR 2014, DOI: 10.1002/ajmg.a.36446

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

    FEBS Journal

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

    Article first published online : 31 MAR 2006, DOI: 10.1111/j.1742-4658.2006.05200.x

  17. Establishment of myelinating schwann cells and barrier integrity between central and peripheral nervous systems depend on Sox10

    Glia

    Volume 60, Issue 5, May 2012, Pages: 806–819, Franziska Fröb, Magdalena Bremer, Markus Finzsch, Tatjana Kichko, Peter Reeh, Ernst R. Tamm, Patrick Charnay and Michael Wegner

    Article first published online : 15 FEB 2012, DOI: 10.1002/glia.22310

  18. 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

    Article first published online : 24 APR 2012, DOI: 10.1002/wdev.57

  19. 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

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36302

  20. SOX10 mutation with peripheral amyelination and developmental disturbance of axons

    Muscle & Nerve

    Volume 45, Issue 2, February 2012, Pages: 284–290, Kathleen Parthey, Malte Kornhuber, Christian Kunze, Dorothea Wand, Kay W. Nolte, Stefan Nikolin, Joachim Weis and J. Michael Schröder

    Article first published online : 12 JAN 2012, DOI: 10.1002/mus.22262