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There are 89929 results for: content related to: Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)

  1. 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

  2. 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

  3. Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature

    American Journal of Medical Genetics

    Volume 58, Issue 2, 28 August 1995, Pages: 115–122, Clinton T. Baldwin, Christopher F. Hoth, Roberto A. Macina and Aubrey Milunsky

    Version of Record online : 16 MAY 2005, DOI: 10.1002/ajmg.1320580205

  4. 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

  5. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 1, 15 September 2003, Pages: 42–45, Bernd Wollnik, Turgut Tukel, Oya Uyguner, Asadollah Ghanbari, Hulya Kayserili, Melike Emiroglu and Memnune Yuksel-Apak

    Version of Record online : 15 MAY 2003, DOI: 10.1002/ajmg.a.20260

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    Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease

    Pigment Cell & Melanoma Research

    Volume 21, Issue 6, December 2008, Pages: 627–645, Jennifer D. Kubic, Kacey P. Young, Rebecca S. Plummer, Anton E. Ludvik and Deborah Lang

    Version of Record online : 6 OCT 2008, DOI: 10.1111/j.1755-148X.2008.00514.x

  7. 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

  8. Mutations in PAX3 associated with waardenburg syndrome type I

    Human Mutation

    Volume 3, Issue 3, 1994, Pages: 205–211, Clinton T. Baldwin, Nina R. Lipsky, Christopher F. Hoth, Tirza Cohen, Wilfred Mamuya and Aubrey Milunsky

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380030306

  9. Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1

    Human Mutation

    Volume 9, Issue 2, 1997, Pages: 177–180, Hidenobu Soejima, Masahiro Fujimoto, Kazuhiro Tsukamoto, Naomichi Matsumoto, Koh-Ichiro Yoshiura, Yoshimitsu Fukushima, Yoshihiro Jinno and Norio Niikawa

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)9:2<177::AID-HUMU11>3.0.CO;2-#

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. Possible homozygous Waardenburg syndrome in a fetus with exencephaly

    American Journal of Medical Genetics

    Volume 59, Issue 2, 6 November 1995, Pages: 263–265, Dr. Ségolène Aymé and Nicole Philip

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320590227

  16. 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

  17. TBX2 expression is regulated by PAX3 in the melanocyte lineage

    Pigment Cell & Melanoma Research

    Volume 26, Issue 1, January 2013, Pages: 67–77, Fang Liu, Juxiang Cao, Jinghu Lv, Liang Dong, Eric Pier, George X. Xu, Rui-an Wang, Zhixiang Xu, Colin Goding and Rutao Cui

    Version of Record online : 21 NOV 2012, DOI: 10.1111/pcmr.12029

  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

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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

  20. Molecular Basis of Congenital Hypopigmentary Disorders in Humans: A Review

    Pigment Cell Research

    Volume 10, Issue 1-2, February 1997, Pages: 12–24, RAYMOND E. BOISSY and JAMES J. NORDLUND

    Version of Record online : 28 JUL 2006, DOI: 10.1111/j.1600-0749.1997.tb00461.x