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There are 5074 results for: content related to: Review and update of mutations causing Waardenburg syndrome

  1. 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

  2. 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

  3. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1032–1037, Matías Morín, Antonio Viñuela, Teresa Rivera, Manuela Villamar, Miguel A. Moreno-Pelayo, Felipe Moreno and Ignacio del Castillo

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32181

  4. Hirschsprung disease: a developmental disorder of the enteric nervous system

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 2, Issue 1, January/February 2013, Pages: 113–129, Sonja J. McKeown, Lincon Stamp, Marlene M. Hao and Heather M. Young

    Version of Record online : 24 APR 2012, DOI: 10.1002/wdev.57

  5. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2296–2302, Antonio Viñuela, Matías Morín, Manuela Villamar, Constantino Morera, M. José Lavilla, Laura Cavallé, Miguel A. Moreno-Pelayo, Felipe Moreno and Ignacio del Castillo

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33026

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder

    Clinical Genetics

    Volume 67, Issue 1, January 2005, Pages: 6–14, AS Brooks, BA Oostra and RMW Hofstra

    Version of Record online : 21 SEP 2004, DOI: 10.1111/j.1399-0004.2004.00319.x

  12. 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

  13. You have free access to this content
    EDNRB/EDN3 and Hirschsprung Disease Type II

    Pigment Cell Research

    Volume 14, Issue 3, June 2001, Pages: 161–169, Andrew S. Mccallion and Aravinda Chakravarti

    Version of Record online : 13 JAN 2002, DOI: 10.1034/j.1600-0749.2001.140305.x

  14. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease

    American Journal of Medical Genetics

    Volume 87, Issue 1, 5 November 1999, Pages: 69–71, Petros Syrris, Nicholas D. Carter and Michael A. Patton

    Version of Record online : 19 OCT 1999, DOI: 10.1002/(SICI)1096-8628(19991105)87:1<69::AID-AJMG14>3.0.CO;2-R

  15. 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

  16. Clinical variability of Waardenburg–Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2290–2295, Beyhan Tüysüz, Anna Collin, Müjde Arapoğlu and Nezir Suyugül

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33031

  17. 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

  18. 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

  19. 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

  20. 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