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There are 3515 results for: content related to: Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria

  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. 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

  3. 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

  4. 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

  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. 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

  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. 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

  9. 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

  10. 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

  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. 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

  13. Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)

    American Journal of Medical Genetics

    Volume 14, Issue 2, February 1983, Pages: 231–239, Professor David Klein and John M. Opitz

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320140205

  14. 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

  15. A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3

    Clinical Genetics

    Volume 47, Issue 3, March 1995, Pages: 139–143, John W. Pierpont, Duane St. Jacques, Laurie H. Seaver and Robert P. Erickson

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1995.tb03946.x

  16. 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

  17. The association of Waardenburg syndrome and Hirschsprung megacolon

    American Journal of Medical Genetics

    Volume 3, Issue 3, 1979, Pages: 217–223, Dr. Gilbert S. Omenn, Victor A. McKusick and Robert J. Gorlin

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320030302

  18. 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

  19. You have free access to this content
    Waardenburg syndrome

    Clinical and Experimental Optometry

    Volume 94, Issue 2, March 2011, Pages: 240–242, Jeewanand Bist, Prakash Adhikari and Ananda Kumar Sharma

    Version of Record online : 29 OCT 2010, DOI: 10.1111/j.1444-0938.2010.00533.x

  20. 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