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There are 9233 results for: content related to: Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature

  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

    Version of Record online : 2 FEB 2010, DOI: 10.1002/humu.21211

  2. 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

  3. 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

  4. 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

  6. 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

  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. 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

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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

  11. 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

  12. 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

  13. 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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    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

  15. 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

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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

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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

  18. 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

  19. 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-#

  20. 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