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There are 6430 results for: content related to: Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects

  1. Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations

    Pigment Cell Research

    Volume 18, Issue 6, December 2005, Pages: 427–438, Gareth N. Corry and D. Alan Underhill

    Version of Record online : 12 OCT 2005, DOI: 10.1111/j.1600-0749.2005.00275.x

  2. 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

  3. Genotype-Phenotype Correlations in Type 1 Waardenburg Syndrome

    The Laryngoscope

    Volume 106, Issue 7, July 1996, Pages: 895–902, Anil K. Lalwani, Anand N. Mhatre, Theresa B. San Agustin and Edward R. Wilcox

    Version of Record online : 1 JUN 2009, DOI: 10.1097/00005537-199607000-00021

  4. You have free access to this content
    Mouse Models for Four Types of Waardenburg Syndrome

    Pigment Cell Research

    Volume 16, Issue 5, October 2003, Pages: 448–454, Masayoshi Tachibana, Yasuhito Kobayashi and Yoshibumi Matsushima

    Version of Record online : 17 NOV 2003, DOI: 10.1034/j.1600-0749.2003.00066.x

  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

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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

  7. 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

  8. Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1026–1031, Marta L. Tamayo, Nancy Gelvez, Marcela Rodriguez, Silvia Florez, Clara Varon, David Medina and Jaime E. Bernal

    Version of Record online : 1 FEB 2008, DOI: 10.1002/ajmg.a.32189

  9. Analysis of variability of clinical manifestations in Waardenburg syndrome

    American Journal of Medical Genetics

    Volume 57, Issue 4, 17 July 1995, Pages: 540–547, Jennifer E. Reynolds, Joanne M. Meyer, Barbara Landa, Cathy A. Stevens, Kathleen S. Arnos, Jamie Israel, Mary L. Marazita, Joann Bodurtha, Walter E. Nance and Scott R. Diehl

    Version of Record online : 9 JUN 2005, DOI: 10.1002/ajmg.1320570405

  10. Transcriptional Regulation of Melanocyte Function

    The Pigmentary System: Physiology and Pathophysiology, Second Edition

    Kazuhisa Takeda, Shigeki Shibahara, Pages: 242–260, 2007

    Published Online : 26 OCT 2007, DOI: 10.1002/9780470987100.ch13

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    Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit

    Pigment Cell & Melanoma Research

    Volume 23, Issue 2, April 2010, Pages: 252–262, Xiao-Li Guo, Hai-Bin Ruan, Yan Li, Xiang Gao and Wei Li

    Version of Record online : 22 JAN 2010, DOI: 10.1111/j.1755-148X.2010.00677.x

  12. You have full text access to this OnlineOpen article
    Microphthalmia-associated transcription factor in melanoma development and MAP-kinase pathway targeted therapy

    Pigment Cell & Melanoma Research

    Volume 28, Issue 4, July 2015, Pages: 390–406, Claudia Wellbrock and Imanol Arozarena

    Version of Record online : 17 APR 2015, DOI: 10.1111/pcmr.12370

  13. A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

    Prenatal Diagnosis

    Volume 35, Issue 13, December 2015, Pages: 1379–1381, Eve Mousty, Sarah Issa, Frédéric Grosjean, Jean-Yves Col, Philippe Khau Van Kien, Marie-Josée Perez, Yuliya Petrov, Dorothée Reboul, Emmanuelle Faubert, Marie-Pascale Le Gac, Nadège Bondurand, Jean Chiesa and Véronique Pingault

    Version of Record online : 3 NOV 2015, DOI: 10.1002/pd.4703

  14. Evidence to Suggest That Expression of MITF Induces Melanocyte Differentiation and Haploinsufficiency of MITF Causes Waardenburg Syndrome Type 2A

    Pigment Cell Research

    Volume 10, Issue 1-2, February 1997, Pages: 25–33, MASAYOSHI TACHIBANA

    Version of Record online : 28 JUL 2006, DOI: 10.1111/j.1600-0749.1997.tb00462.x

  15. 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

  16. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

    Human Mutation

    Volume 7, Issue 1, 1996, Pages: 30–35, James H. Asher Jr., Annemarie Sommer, Robert Morell and Thomas B. Friedman

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T

  17. You have free access to this content
    Spotlight on Spotted Mice: A Review of White Spotting Mouse Mutants and Associated Human Pigmentation Disorders

    Pigment Cell Research

    Volume 17, Issue 3, June 2004, Pages: 215–224, Laura L. Baxter, Ling Hou, Stacie K. Loftus and William J. Pavan

    Version of Record online : 11 MAY 2004, DOI: 10.1111/j.1600-0749.2004.00147.x

  18. You have free access to this content
    A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes

    Experimental Dermatology

    Volume 18, Issue 9, September 2009, Pages: 741–749, Clio Dessinioti, Alexander J. Stratigos, Dimitris Rigopoulos and Andreas D. Katsambas

    Version of Record online : 23 JUN 2009, DOI: 10.1111/j.1600-0625.2009.00896.x

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    Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2

    FEBS Letters

    Volume 586, Issue 23, November 30, 2012, Pages: 4126–4131, Hua Zhang, Hunjin Luo , Hongsheng Chen, Lingyun Mei, Chufeng He, Lu Jiang, Jia-Da Li and Yong Feng

    Version of Record online : 23 OCT 2012, DOI: 10.1016/j.febslet.2012.10.006

  20. Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect

    American Journal of Medical Genetics

    Volume 75, Issue 4, 3 February 1998, Pages: 401–408, Jeffrey S. Nye, Nancy Balkin, Heather Lucas, Paul A. Knepper, David G. McLone and Joel Charrow

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980203)75:4<401::AID-AJMG10>3.0.CO;2-S