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There are 14329 results for: content related to: SOX10 mutation in Waardenburg syndrome type II

  1. You have free access to this content
    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

  2. 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

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32181

  3. 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

  4. 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

  5. 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

  6. 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

  7. You have free access to this content
    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

  8. You have free access to this content
    Sumoylation of the SOX10 transcription factor regulates its transcriptional activity

    FEBS Letters

    Volume 580, Issue 6, March 06, 2006, Pages: 1635–1641, Mathilde Girard and Michel Goossens

    Version of Record online : 17 FEB 2006, DOI: 10.1016/j.febslet.2006.02.011

  9. 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

  10. 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

  11. You have free access to this content
    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

  12. You have free access to this content
    Expression of the SOX10 gene during human development

    FEBS Letters

    Volume 432, Issue 3, August 07, 1998, Pages: 168–172, Nadege Bondurand, Alexandra Kobetz, Veronique Pingault, Nicole Lemort, Ferechte Encha-Razavi, Gerard Couly, Derk E Goerich, Michael Wegner, Marc Abitbol and Michel Goossens

    Version of Record online : 18 AUG 1998, DOI: 10.1016/S0014-5793(98)00843-6

  13. 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

    Version of Record online : 15 FEB 2012, DOI: 10.1002/glia.22310

  14. Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 431–436, C.P. Barnett, R. Mendoza-Londono, S. Blaser, J. Gillis, L. Dupuis, A.V. Levin, P.W. Chiang, E. Spector and W. Reardon

    Version of Record online : 10 FEB 2009, DOI: 10.1002/ajmg.a.32657

  15. You have free access to this content
    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

  16. Differential Sox10 genomic occupancy in myelinating glia

    Glia

    Volume 63, Issue 11, November 2015, Pages: 1897–1914, Camila Lopez-Anido, Guannan Sun, Matthias Koenning, Rajini Srinivasan, Holly A. Hung, Ben Emery, Sunduz Keles and John Svaren

    Version of Record online : 14 MAY 2015, DOI: 10.1002/glia.22855

  17. 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

  18. 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

  19. 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

  20. You have free access to this content
    Neural crest cells retain their capability for multipotential differentiation even after lineage-restricted stages

    Developmental Dynamics

    Volume 240, Issue 7, July 2011, Pages: 1681–1693, Tsutomu Motohashi, Katsumasa Yamanaka, Kairi Chiba, Kentaro Miyajima, Hitomi Aoki, Tomohisa Hirobe and Takahiro Kunisada

    Version of Record online : 18 MAY 2011, DOI: 10.1002/dvdy.22658