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There are 10680 results for: content related to: Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis

  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. 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

  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 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred

    American Journal of Medical Genetics

    Volume 53, Issue 1, 15 October 1994, Pages: 75–80, Eleanor Dow, Sean Cross, Debra J. Wolgemuth, Stanislas Lyonnet, Lois M. Mulligan, Maria Mascari, Roger Ladda and Robert Williamson

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320530116

  15. 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

  16. 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

  17. 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

  18. Cochlear implantations in children with Waardenburg syndrome: an electrophysiological and psychophysical review

    Cochlear Implants International

    Volume 7, Issue 4, December 2006, Pages: 202–206, Henry Pau and William P R Gibson

    Version of Record online : 8 DEC 2006, DOI: 10.1002/cii.320

  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. Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1436–1449, Asma Chaoui, Yuli Watanabe, Renaud Touraine, Viviane Baral, Michel Goossens, Veronique Pingault and Nadege Bondurand

    Version of Record online : 19 SEP 2011, DOI: 10.1002/humu.21583