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There are 4381 results for: content related to: Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome

  1. 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

  2. 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

  3. 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

  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. 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. 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

  7. 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

    Version of Record online : 8 JUL 2008, DOI: 10.1111/j.1582-4934.2008.00427.x

  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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    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

    Version of Record online : 12 JUL 2012, DOI: 10.1111/j.1755-148X.2012.01024.x

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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

  11. 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

    Version of Record online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600408.x

  12. Neural crest anomaly syndromes in children with spina bifida

    Teratology

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

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

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    Functional Dissection of Pax3 in Paraxial Mesoderm Development and Myogenesis

    STEM CELLS

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

    Version of Record online : 19 DEC 2012, DOI: 10.1002/stem.1254

  14. Genomic and clinical analysis of fusion gene amplification in rhabdomyosarcoma: A report from the Children's Oncology Group

    Genes, Chromosomes and Cancer

    Volume 51, Issue 7, July 2012, Pages: 662–674, Fenghai Duan, Lynette M. Smith, Donna M. Gustafson, Chune Zhang, Mandy J. Dunlevy, Julie M. Gastier-Foster and Frederic G. Barr

    Version of Record online : 22 MAR 2012, DOI: 10.1002/gcc.21953

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    Mutual repression between Pax3 and Pax6 is involved in the positioning of ophthalmic trigeminal placode in avian embryo

    Development, Growth & Differentiation

    Volume 53, Issue 9, December 2011, Pages: 994–1003, Yoshio Wakamatsu

    Version of Record online : 24 NOV 2011, DOI: 10.1111/j.1440-169X.2011.01311.x

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    Dissection of the functional interaction between p53 and the embryonic proto-oncoprotein PAX3

    FEBS Letters

    Volume 581, Issue 30, December 22, 2007, Pages: 5831–5835, Timothy J. Underwood, Jay Amin, Karen A. Lillycrop and Jeremy P. Blaydes

    Version of Record online : 29 NOV 2007, DOI: 10.1016/j.febslet.2007.11.056

  17. AmphiPax3/7, an amphioxus paired box gene: insights into chordate myogenesis, neurogenesis, and the possible evolutionary precursor of definitive vertebrate neural crest

    Evolution & Development

    Volume 1, Issue 3, November/December 1999, Pages: 153–165, Linda Z. Holland, Michael Schubert, Zbynek Kozmik and Nicholas D. Holland

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1525-142x.1999.99019.x

  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. 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

    Version of Record online : 12 JUN 2012, DOI: 10.1002/bdrc.21011

  20. Pax3 and Pax7 expression during myoblast differentiation in vitro and fast and slow muscle regeneration in vivo

    Cell Biology International

    Volume 33, Issue 4, April 2009, Pages: 483–492, Edyta Brzóska, Marta Przewoźniak, Iwona Grabowska, Katarzyna Jańczyk-Ilach and Jerzy Moraczewski

    Version of Record online : 2 JAN 2013, DOI: 10.1016/j.cellbi.2008.11.015