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There are 2677 results for: content related to: Pediatric case report: Clinical profile of a patient with PCWH with p. Q 377 X nonsense mutation in the SOX 10 gene

  1. 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

  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. 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

  4. 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

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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

  6. 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

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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

  8. 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

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    Isolation and live imaging of enteric progenitors based on Sox10-Histone2BVenus transgene expression

    genesis

    Volume 49, Issue 7, July 2011, Pages: 599–618, Jennifer C. Corpening, Karen K. Deal, V. Ashley Cantrell, Stephanie B. Skelton, Dennis P. Buehler and E. Michelle Southard-Smith

    Version of Record online : 21 JUN 2011, DOI: 10.1002/dvg.20748

  10. 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

  11. 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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    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

  13. 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

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    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

  15. 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

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    Neural crest-derived cells sustain their multipotency even after entry into their target tissues

    Developmental Dynamics

    Volume 243, Issue 3, March 2014, Pages: 368–380, Tsutomu Motohashi, Daisuke Kitagawa, Natsuki Watanabe, Takanori Wakaoka and Takahiro Kunisada

    Version of Record online : 23 NOV 2013, DOI: 10.1002/dvdy.24072

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    Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors

    FEBS Letters

    Volume 556, Issue 1-3, January 02, 2004, Pages: 236–244, Andreas Ludwig, Stephan Rehberg and Michael Wegner

    Version of Record online : 13 DEC 2003, DOI: 10.1016/S0014-5793(03)01446-7

  18. 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

  19. Sox10-iCreERT2: A mouse line to inducibly trace the neural crest and oligodendrocyte lineage

    genesis

    Volume 50, Issue 6, June 2012, Pages: 506–515, Christiane Simon, Heiko Lickert, Magdalena Götz and Leda Dimou

    Version of Record online : 20 FEB 2012, DOI: 10.1002/dvg.22003

  20. 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