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There are 4557 results for: content related to: Temporal bone abnormalities associated with hearing loss in waardenburg syndrome

  1. 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

  2. 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

  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. 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

  5. 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

  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. 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

  8. Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review

    American Journal of Medical Genetics

    Volume 40, Issue 1, 1 July 1991, Pages: 65–74, Dr. Elias O. Da-Silva

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320400113

  9. Cochlear Implants in Waardenburg Syndrome

    The Laryngoscope

    Volume 116, Issue 7, July 2006, Pages: 1273–1275, Robert D. Cullen, Carlton Zdanski, Patricia Roush, Carolyn Brown, Holly Teagle, Harold C. Pillsbury III and Craig Buchman

    Version of Record online : 2 JAN 2009, DOI: 10.1097/01.mlg.0000221959.67801.9b

  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. 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. 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

  13. Waardenburg syndrome

    International Journal of Dermatology

    Volume 38, Issue 9, September 1999, Pages: 656–663, Assen L. Dourmishev, Lyubomir A. Dourmishev, Robert A. Schwartz, . Mph and Camila K. Janniger

    Version of Record online : 5 APR 2002, DOI: 10.1046/j.1365-4362.1999.00750.x

  14. A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1038–1041, Yves Sznajer, Cristina Coldéa, Françoise Meire, Isabelle Delpierre, Tayeb Sekhara and Renaud L. Touraine

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32247

  15. 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

  16. 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

  17. Spontaneous Contraction of Leukodermic Patches in Waardenburg Syndrome

    The Journal of Dermatology

    Volume 20, Issue 11, November 1993, Pages: 707–711, Tsuling Chang, Ken Hashimoto and Erawati V. Bawle

    Version of Record online : 9 APR 2015, DOI: 10.1111/j.1346-8138.1993.tb01368.x

  18. Genetic Hypomelanoses: Disorders Characterized By Congenital White Spotting - Piebaldism, Waardenburg Syndrome, and Related Genetic Disorders of Melanocyte Development - Clinical Aspects

    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: 539–550, 2007

    Published Online : 26 OCT 2007, DOI: 10.1002/9780470987100.ch29

  19. 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

  20. Phenotypic discriminants in the Waardenburg syndrome

    Clinical Genetics

    Volume 41, Issue 4, April 1992, Pages: 181–188, Ingrid Winsbip and Peter Brighton

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1992.tb03660.x