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There are 4979 results for: content related to: Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome

  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

    Article first published online : 2 FEB 2010, DOI: 10.1002/humu.21211

  2. 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

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

  3. Hearing loss in Waardenburg syndrome: a systematic review

    Clinical Genetics

    J. Song, Y. Feng, F.R. Acke, P. Coucke, K. Vleminckx and I.J. Dhooge

    Article first published online : 17 JUL 2015, DOI: 10.1111/cge.12631

  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

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

  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. 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

    Article first published online : 16 MAY 2005, DOI: 10.1002/ajmg.1320580205

  7. 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

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380030306

  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

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32402

  9. Waardenburg syndrome type 3 (Klein–Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

    Clinical Genetics

    Volume 60, Issue 4, October 2001, Pages: 301–304, M Tekin, JN Bodurtha, WE Nance and A Pandya

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600408.x

  10. Neural crest anomaly syndromes in children with spina bifida


    Volume 60, Issue 4, October 1999, Pages: 179–189, Jeffrey S. Nye, David G. Mclone, Joel Charrow and Erin A. Hayes

    Article first published online : 4 OCT 1999, DOI: 10.1002/(SICI)1096-9926(199910)60:4<179::AID-TERA2>3.0.CO;2-U

  11. You have full text access to this Open Access content
    Pax genes in embryogenesis and oncogenesis

    Journal of Cellular and Molecular Medicine

    Volume 12, Issue 6a, December 2008, Pages: 2281–2294, Qiuyu Wang, Wen-Hui Fang, Jerzy Krupinski, Shant Kumar, Mark Slevin and Patricia Kumar

    Article first published online : 8 JUL 2008, DOI: 10.1111/j.1582-4934.2008.00427.x

  12. Pax3 and Pax7 interact reciprocally and regulate the expression of cadherin-7 through inducing neuron differentiation in the developing chicken spinal cord

    Journal of Comparative Neurology

    Juntang Lin, Congrui Wang, Ciqing Yang, Sulei Fu and Christoph Redies

    Article first published online : 9 SEP 2015, DOI: 10.1002/cne.23885

  13. 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

    Article first published online : 5 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01853.x

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

    Prenatal Diagnosis

    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

    Article first published online : 3 NOV 2015, DOI: 10.1002/pd.4703

  15. You have free access to this content
    Functional Dissection of Pax3 in Paraxial Mesoderm Development and Myogenesis


    Volume 31, Issue 1, January 2013, Pages: 59–70, Alessandro Magli, Erin Schnettler, Fabrizio Rinaldi, Paul Bremer and Rita C. R. Perlingeiro

    Article first published online : 19 DEC 2012, DOI: 10.1002/stem.1254

  16. You have free access to this content
    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

    Article first published online : 6 OCT 2008, DOI: 10.1111/j.1755-148X.2008.00514.x

  17. Mouse as a model for multifactorial inheritance of neural tube defects

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 96, Issue 2, June 2012, Pages: 193–205, Irene E. Zohn

    Article first published online : 12 JUN 2012, DOI: 10.1002/bdrc.21011

  18. You have free access to this content
    Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)

    Human Mutation

    Volume 11, Issue S1, 1998, Pages: S145–S147, Dr. Frans A. Hol, Monique P.A. Geurds, Cor W.R.J. Cremers, Ben C.J. Hamel and Edwin C.M. Mariman

    Article first published online : 28 APR 2011, DOI: 10.1002/humu.1380110149

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    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

    Article first published online : 22 JAN 2015, DOI: 10.1111/coa.12312

  20. You have free access to this content
    Pax3GFP, a new reporter for the melanocyte lineage, highlights novel aspects of PAX3 expression in the skin

    Pigment Cell & Melanoma Research

    Volume 25, Issue 5, September 2012, Pages: 545–554, Johanna Djian-Zaouche, Cécile Campagne, Edouard Reyes-Gomez, Stéphanie Gadin-Czerw, Florence Bernex, Anne Louise, Frédéric Relaix, Margaret Buckingham, Jean-Jacques Panthier and Geneviève Aubin-Houzelstein

    Article first published online : 12 JUL 2012, DOI: 10.1111/j.1755-148X.2012.01024.x