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There are 8857 results for: content related to: Mutations in PAX3 associated with waardenburg syndrome type I

  1. 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

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

  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. 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

  4. 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

  5. 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

  6. 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

  8. 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

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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

  10. 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

  11. 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

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    Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors

    FEBS Letters

    Volume 499, Issue 3, June 22, 2001, Pages: 274–278, Despina Stamataki, Maria-Christina Kastrinaki, Baljinder S. Mankoo, Vassilis Pachnis and Domna Karagogeos

    Version of Record online : 18 JUN 2001, DOI: 10.1016/S0014-5793(01)02556-X

  13. 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

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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

  15. 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

  16. 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

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    Downregulation of Pax3 expression correlates with acquired GFAP expression during NSC differentiation towards astrocytes

    FEBS Letters

    Volume 585, Issue 7, April 06, 2011, Pages: 1014–1020, Yan Liu, Hui Zhu, Mei Liu, Jinfeng Du, Yuyan Qian, Yongjun Wang, Fei Ding and Xiaosong Gu

    Version of Record online : 1 MAR 2011, DOI: 10.1016/j.febslet.2011.02.034

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    The Pax3–FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx

    The EMBO Journal

    Volume 18, Issue 13, July 1, 1999, Pages: 3702–3711, Andrew D. Hollenbach, Jack E. Sublett, Craig J. McPherson and Gerard Grosveld

    Version of Record online : 1 JUL 1999, DOI: 10.1093/emboj/18.13.3702

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    Pax3 isoforms in sensory neurogenesis: Expression and function in the ophthalmic trigeminal placode

    Developmental Dynamics

    Volume 243, Issue 10, October 2014, Pages: 1249–1261, Jason S. Adams, Sterling N. Sudweeks and Michael R. Stark

    Version of Record online : 28 JAN 2014, DOI: 10.1002/dvdy.24108

  20. You have free access to this content
    Current perspectives on the causes of neural tube defects resulting from diabetic pregnancy

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 135C, Issue 1, 15 May 2005, Pages: 77–87, Mary R. Loeken

    Version of Record online : 30 MAR 2005, DOI: 10.1002/ajmg.c.30056