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There are 3062 results for: content related to: A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease

  1. Waardenburg syndrome: more common than you think!

    Clinical Otolaryngology

    Volume 40, Issue 1, February 2015, Pages: 44–48, A. Zaman, R. Capper and W. Baddoo

    Version of Record online : 22 JAN 2015, DOI: 10.1111/coa.12312

  2. 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

  3. 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

  4. 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

  5. Melanoblast Development and Associated Disorders

    The Pigmentary System: Physiology and Pathophysiology, Second Edition

    James J. Nordlund, Raymond E. Boissy, Vincent J. Hearing, Richard A. King, William S. Oetting, Jean-Paul Ortonne, Pages: 140–154, 2007

    Published Online : 26 OCT 2007, DOI: 10.1002/9780470987100.ch6

  6. 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

  7. Waardenburg Syndrome With Familial Unilateral Renal Agenesis: A New Syndrome Variant?

    Therapeutic Apheresis and Dialysis

    Volume 19, Issue 3, June 2015, Pages: 296–298, Katie M Webb, Alisha J Smith, Linda M Dansby and Charles J Diskin

    Version of Record online : 17 NOV 2014, DOI: 10.1111/1744-9987.12244

  8. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: A new variant of Waardenburg syndrome?

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1880–1885, Alona Gad, Mercy Laurino, Kenneth R. Maravilla, Mark Matsushita and Wendy H. Raskind

    Version of Record online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32402

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    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

  10. 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

  11. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

    American Journal of Medical Genetics

    Volume 108, Issue 3, 15 March 2002, Pages: 223–225, Joke B.G.M. Verheij, Jürgen Kunze, Jan Osinga, Anthonie J. van Essen and Robert M.W. Hofstra

    Version of Record online : 17 JAN 2002, DOI: 10.1002/ajmg.10172

  12. Temporal bone abnormalities associated with hearing loss in waardenburg syndrome

    The Laryngoscope

    Volume 113, Issue 11, November 2003, Pages: 2035–2041, Colm Madden, Mark J. Halsted, Robert J. Hopkin, Daniel I. Choo, Corning Benton and John H. Greinwald Jr.

    Version of Record online : 9 SEP 2010, DOI: 10.1097/00005537-200311000-00034

  13. 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

  14. 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

    Version of Record online : 12 JAN 2012, DOI: 10.1002/mus.22262

  15. Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects

    Clinical Genetics

    Volume 83, Issue 1, January 2013, Pages: 78–82, T Yang, X Li, Q Huang, L Li, Y Chai, L Sun, X Wang, Y Zhu, Z Wang, Z Huang, Y Li and H Wu

    Version of Record online : 5 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01853.x

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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

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

  17. Identification of a Distal Enhancer for the Melanocyte-Specific Promoter of the MITF Gene

    Pigment Cell Research

    Volume 15, Issue 3, June 2002, Pages: 201–211, Ken-ichi Watanabe, Kazuhisa Takeda, Ken-ichi Yasumoto, Tetsuo Udono, Hideo Saito, Katsuhisa Ikeda, Tomonori Takasaka, Kazuhiro Takahashi, Toshimitsu Kobayashi, Masayoshi Tachibana and Shigeki Shibahara

    Version of Record online : 22 MAY 2002, DOI: 10.1034/j.1600-0749.2002.01080.x

  18. You have full text access to this OnlineOpen article
    Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

    Developmental Neurobiology

    Volume 75, Issue 11, November 2015, Pages: 1219–1240, Heiko Locher, John C.M.J. de Groot, Liesbeth van Iperen, Margriet A. Huisman, Johan H.M. Frijns and Susana M. Chuva de Sousa Lopes

    Version of Record online : 28 FEB 2015, DOI: 10.1002/dneu.22279

  19. 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

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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