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There are 6543 results for: content related to: 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?

  1. 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

  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. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

    Version of Record online : 22 JAN 2015, DOI: 10.1111/coa.12312

  10. 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

  11. 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

  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

  13. Neural tube defects in Waardenburg syndrome: A case report and review of the literature

    American Journal of Medical Genetics Part A

    Joseph Hart and Kalpana Miriyala

    Version of Record online : 7 JUL 2017, DOI: 10.1002/ajmg.a.38325

  14. Waardenburg syndrome: Clinical differentiation between types I and II

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 3, 15 March 2003, Pages: 223–235, Eliete Pardono, Yolande van Bever, Jenneke van den Ende, Poti C. Havrenne, Paula Iughetti, Sylvia R.P. Maestrelli, Orozimbo Costa F, Antonio Richieri-Costa, Oswaldo Frota-Pessoa and Paulo A. Otto

    Version of Record online : 15 JAN 2003, DOI: 10.1002/ajmg.a.10193

  15. Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1026–1031, Marta L. Tamayo, Nancy Gelvez, Marcela Rodriguez, Silvia Florez, Clara Varon, David Medina and Jaime E. Bernal

    Version of Record online : 1 FEB 2008, DOI: 10.1002/ajmg.a.32189

  16. Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria

    American Journal of Medical Genetics

    Volume 55, Issue 1, 2 January 1995, Pages: 95–100, Xue-Zhong Liu, Valerie E. Newton and Andrew P. Read

    Version of Record online : 16 MAY 2005, DOI: 10.1002/ajmg.1320550123

  17. Temporal bone abnormalities associated with hearing loss in waardenburg syndrome

    The Laryngoscope

    Volume 113, Issue 11, November 2003, Pages: 2035–2041, Colm Madden, Mark J. Halsted, Robert J. Hopkin, Daniel I. Choo, Corning Benton and John H. Greinwald Jr.

    Version of Record online : 9 SEP 2010, DOI: 10.1097/00005537-200311000-00034

  18. Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?

    Clinical Genetics

    Volume 79, Issue 6, June 2011, Pages: 554–560, RE Vilain, T Dudding, SG Braye, C Groombridge, C Meldrum, AD Spigelman, S Ackland, L Ashman and RJ Scott

    Version of Record online : 23 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01489.x

  19. Waardenburg Syndrome With Familial Unilateral Renal Agenesis: A New Syndrome Variant?

    Therapeutic Apheresis and Dialysis

    Volume 19, Issue 3, June 2015, Pages: 296–298, Katie M Webb, Alisha J Smith, Linda M Dansby and Charles J Diskin

    Version of Record online : 17 NOV 2014, DOI: 10.1111/1744-9987.12244

  20. 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