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There are 23355 results for: content related to: Deletion of the SLUG ( SNAI2 ) gene results in human piebaldism

  1. Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1195–1199, Cathy A. Stevens, Pei-Wen Chiang and Ludwine M. Messiaen

    Version of Record online : 21 MAR 2012, DOI: 10.1002/ajmg.a.35297

  2. 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

  3. 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

  4. Ultrastructural Study of Two Patients With Both Piebaldism and Neurofibromatosis 1

    Pediatric Dermatology

    Volume 10, Issue 3, September 1993, Pages: 224–234, Tsuling Chang, John D. McGrae Jr. and Ken Hashimoto

    Version of Record online : 20 MAR 2008, DOI: 10.1111/j.1525-1470.1993.tb00366.x

  5. Piebaldism: an autonomous autosomal dominant entity

    Clinical Genetics

    Volume 39, Issue 5, May 1991, Pages: 330–337, Ingrid Winship, Karen Young, Robert Martell, Rajkumar Ramesar, Diana Curtis and Peter Beighton

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1991.tb03039.x

  6. Piebaldism with deafness: Molecular evidence for an expanded syndrome

    American Journal of Medical Genetics

    Volume 75, Issue 1, 6 January 1998, Pages: 101–103, Richard A. Spritz and Peter Beighton

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980106)75:1<101::AID-AJMG20>3.0.CO;2-P

  7. Human piebaldism: relationship between phenotype and site of kit gene mutation

    British Journal of Dermatology

    Volume 132, Issue 6, June 1995, Pages: 929–935, K.A. WARD, C. MOSS and D.S.A. SANDERS

    Version of Record online : 6 SEP 2010, DOI: 10.1111/j.1365-2133.1995.tb16951.x

  8. You have free access to this content
    Human piebaldism: six novel mutations of the proto-oncogene KIT

    Human Mutation

    Volume 20, Issue 3, September 2002, Page: 234, Petros Syrris, Kirsten Heathcote, Romeo Carrozzo, Koen Devriendt, Nursel Elçioglu, Christine Garrett, Meriel McEntagart and Nicholas D. Carter

    Version of Record online : 21 AUG 2002, DOI: 10.1002/humu.9057

  9. In vivo and in vitro evidence for epidermal H2O2-mediated oxidative stress in piebaldism

    Experimental Dermatology

    Volume 19, Issue 10, October 2010, Pages: 883–887, Tayyebeh Vafaee, Hartmut Rokos, Mohamed M. A. E. L. Salem and Karin U. Schallreuter

    Version of Record online : 16 SEP 2009, DOI: 10.1111/j.1600-0625.2009.00966.x

  10. Three novel mutations of the proto-oncogene KIT cause human piebaldism

    American Journal of Medical Genetics

    Volume 95, Issue 1, 6 November 2000, Pages: 79–81, Petros Syrris, Nasser M. Malik, Victoria A. Murday, Michael A. Patton, Nicholas D. Carter, Helen E. Hughes and Kay Metcalfe

    Version of Record online : 7 NOV 2000, DOI: 10.1002/1096-8628(20001106)95:1<79::AID-AJMG16>3.0.CO;2-4

  11. Graft-versus-host reaction affecting lesional skin but not normal skin in a patient with piebaldism

    British Journal of Dermatology

    Volume 134, Issue 1, January 1996, Pages: 134–137, R. K. P. CHOW, W. D. STEWART and V. C. HO

    Version of Record online : 28 JUN 2008, DOI: 10.1046/j.1365-2133.1996.d01-760.x

  12. Expression of the c-kit receptor in hypomelanosis: a comparative study between piebaldism, naevus depigmentosus and vitiligo

    British Journal of Dermatology

    Volume 132, Issue 2, February 1995, Pages: 182–189, E. DIPPEL, N. HAAS, J. GRABBE, D. SCHADENDORF, K. HAMANN and B.M. CZARNETZKI

    Version of Record online : 29 JUL 2006, DOI: 10.1111/j.1365-2133.1995.tb05011.x

  13. Deletion of the KIT and PDGFRA genes in a patient with piebaldism

    American Journal of Medical Genetics

    Volume 44, Issue 4, 1 November 1992, Pages: 492–495, Dr. Richard A. Spritz, Sara Droetto and Yoshimitsu Fukushima

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320440422

  14. You have free access to this content
    Piebaldism

    The Journal of Dermatology

    Volume 40, Issue 5, May 2013, Pages: 330–335, Naoki Oiso, Kazuyoshi Fukai, Akira Kawada and Tamio Suzuki

    Version of Record online : 1 JUN 2012, DOI: 10.1111/j.1346-8138.2012.01583.x

  15. De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation

    American Journal of Medical Genetics

    Volume 113, Issue 2, 22 November 2002, Pages: 190–192, A. Radha Ramadevi, Usha Naik, Usha Dutta, Srikanth and K. Prabhakara

    Version of Record online : 14 AUG 2002, DOI: 10.1002/ajmg.10739

  16. The Molecular Basis of Human Piebaldism

    Pigment Cell Research

    Volume 5, Issue 5, November 1992, Pages: 340–343, RICHARD A. SPRITZ

    Version of Record online : 28 JUL 2006, DOI: 10.1111/j.1600-0749.1992.tb00559.x

  17. Association of Piebaldism, Multiple Café-au-lait Macules, and Intertriginous Freckling: Clinical Evidence of a Common Pathway between KIT and Sprouty-Related, Ena/Vasodilator-Stimulated Phosphoprotein Homology-1 Domain Containing Protein 1 (SPRED1)

    Pediatric Dermatology

    Volume 30, Issue 3, May/June 2013, Pages: 379–382, Yvonne E. Chiu, Stefanie Dugan, Donald Basel and Dawn H. Siegel

    Version of Record online : 28 SEP 2012, DOI: 10.1111/j.1525-1470.2012.01858.x

  18. Autologous cell suspension grafting in segmental vitiligo and piebaldism: a randomised controlled trial comparing full-surface and fractional CO2 laser recipient site preparations

    British Journal of Dermatology

    Accepted manuscript online: 12 APR 2017, J.E. Lommerts, A.A. Meesters, L. Komen, M.W. Bekkenk, M.A. de Rie, R.M. Luiten and A. Wolkerstorfer

    DOI: 10.1111/bjd.15569

  19. Piebaldism, an autosomal dominant trait distinct from waardenburg syndrome

    American Journal of Medical Genetics

    Volume 37, Issue 4, December 1990, Pages: 600–601, Agnes Bankier and Leslie Sheffield

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320370435

  20. Permanent repigmentation of piebaldism by erbium:YAG laser and autologous cultured epidermis

    British Journal of Dermatology

    Volume 150, Issue 4, April 2004, Pages: 715–721, L. Guerra, G. Primavera, D. Raskovic, G. Pellegrini, O. Golisano, S. Bondanza, S. Kuhn, P. Piazza, A. Luci, F. Atzori and M. De Luca

    Version of Record online : 6 APR 2004, DOI: 10.1111/j.0007-0963.2004.05500.x