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There are 31819 results for: content related to: Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene

  1. Molecular Regulation of Melanin Formation: Melanosome Transporter Proteins

    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: 230–241, 2007

    Published Online : 26 OCT 2007, DOI: 10.1002/9780470987100.ch12

  2. The Mouse Pink-Eyed Dilution Gene: Association with Hypopigmentation in Prader-Willi and Angelman Syndromes and with Human OCA2

    Pigment Cell Research

    Volume 7, Issue 6, December 1994, Pages: 398–402, MURRAY H. BRILLIANT, RICHARD KING, UTA FRANCKE, SIMONE SCHUFFENHAUER, THOMAS MEITINGER, JOHN M. GARDNER, DONNA DURHAM-PIERRE and YOSHIMICHI NAKATSU

    Version of Record online : 28 JUL 2006, DOI: 10.1111/j.1600-0749.1994.tb00068.x

  3. Genetic Hypomelanoses: Generalized Hypopigmentation

    The Pigmentary System: Physiology and Pathophysiology, Second Edition

    Richard A. King, William S. Oetting, Philippe Bahadoran, Jean-Paul Ortonne, Anne-Sophie Gadenne, James J. Nordlund, Marnie D. Titsch, Allan D. Mineroff, Jean L. Bolognia, Tanusin Ploysangam, Pages: 599–635, 2007

    Published Online : 26 OCT 2007, DOI: 10.1002/9780470987100.ch31

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    The Mouse p (pink-eyed dilution) and Human P Genes, Oculocutaneous Albinism Type 2 (OCA2), and Melanosomal pH

    Pigment Cell Research

    Volume 14, Issue 2, April 2001, Pages: 86–93, MURRAY H. BRILLIANT

    Version of Record online : 1 MAY 2002, DOI: 10.1034/j.1600-0749.2001.140203.x

  5. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele

    American Journal of Medical Genetics

    Volume 71, Issue 1, 11 July 1997, Pages: 57–62, Richard A. Spritz, T. U. Bailin, Robert D. Nicholls, Seung-Taek Lee, Sang-Kyu Park, Maria J. Mascari and Merlin G. Butler

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970711)71:1<57::AID-AJMG11>3.0.CO;2-U

  6. Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 3, 30 April 2004, Pages: 290–292, Keiko Akahoshi, Richard A. Spritz, Kazuyoshi Fukai, Norimasa Mitsui, Kazushige Matsushima and Hirofumi Ohashi

    Version of Record online : 24 OCT 2003, DOI: 10.1002/ajmg.a.20580

  7. Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 11, 1 June 2008, Pages: 1493–1496, Pei-Wen Chiang, Elaine Spector and Anne Chun-Hui Tsai

    Version of Record online : 30 APR 2008, DOI: 10.1002/ajmg.a.32321

  8. You have free access to this content
    P gene mutations associated with oculocutaneous albinism type II (OCA2)

    Human Mutation

    Volume 25, Issue 3, March 2005, Page: 323, William S. Oetting, Sarah Savage Garrett, Marcia Brott and Richard A. King

    Version of Record online : 14 FEB 2005, DOI: 10.1002/humu.9318

  9. Retinochoroidal atrophy in two adult patients with Angelman syndrome

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 2, 1 October 2003, Pages: 155–158, A. Rufa, M.T. Dotti, A. Orrico, C. Battisti, F. Carletto and A. Federico

    Version of Record online : 18 JUN 2003, DOI: 10.1002/ajmg.a.20217

  10. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa

    Human Mutation

    Volume 15, Issue 2, February 2000, Pages: 166–172, Robyn Kerr, Gwynneth Stevens, Prashiela Manga, Sarah Salm, Premila John, Tabitha Haw and Michele Ramsay

    Version of Record online : 25 JAN 2000, DOI: 10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z

  11. Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)

    Human Mutation

    Volume 12, Issue 6, 1998, Page: 434, WS Oetting, JM Gardner, JP Fryer, A Ching, D Durham-Pierre, RA King and MH Brilliant

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU15>3.0.CO;2-A

  12. Duplication of 15q11.2–q14, including the P gene, in a woman with generalized skin hyperpigmentation

    American Journal of Medical Genetics

    Volume 104, Issue 4, 15 December 2001, Pages: 299–302, Keiko Akahoshi, Kazuyoshi Fukai, Atsushi Kato, Satoshi Kimiya, Takeo Kubota and Richard A. Spritz

    Version of Record online : 29 OCT 2001, DOI: 10.1002/ajmg.10095

  13. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 827–835, Dimitre R. Simeonov, Xinjing Wang, Chen Wang, Yuri Sergeev, Monika Dolinska, Matthew Bower, Roxanne Fischer, David Winer, Genia Dubrovsky, Joan Z. Balog, Marjan Huizing, Rachel Hart, Wadih M. Zein, William A. Gahl, Brian P. Brooks and David R. Adams

    Version of Record online : 30 APR 2013, DOI: 10.1002/humu.22315

  14. The Pink-Eyed Dilution Gene and the Molecular Pathogenesis of Tyrosinase-Positive Albinism (OCA2)

    The Journal of Dermatology

    Volume 26, Issue 11, November 1999, Pages: 738–747, Prashiela Manga and Seth J. Orlow

    Version of Record online : 9 APR 2015, DOI: 10.1111/j.1346-8138.1999.tb02085.x

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    Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism

    Developmental Medicine & Child Neurology

    Volume 41, Issue 9, September 1999, Pages: 633–638, D A Thompson, A Kriss, S Cottrell and D Taylor

    Version of Record online : 13 FEB 2007, DOI: 10.1111/j.1469-8749.1999.tb00667.x

  16. Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families

    Prenatal Diagnosis

    Volume 27, Issue 6, June 2007, Pages: 502–506, Li Hongyi, Wei Haiyun, Zheng Hui, Wenren Qing, Duan Honglei, Meng Shu and Jiang Weiying

    Version of Record online : 27 MAR 2007, DOI: 10.1002/pd.1713

  17. UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome

    Pigment Cell & Melanoma Research

    Volume 24, Issue 5, October 2011, Pages: 944–952, Daren Low and Ken-Shiung Chen

    Version of Record online : 27 JUL 2011, DOI: 10.1111/j.1755-148X.2011.00884.x

  18. Human pigmentation genetics: the difference is only skin deep

    BioEssays

    Volume 20, Issue 9, September 1998, Pages: 712–721, Richard A. Sturm, Neil F. Box and Michele Ramsay

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1521-1878(199809)20:9<712::AID-BIES4>3.0.CO;2-I

  19. Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism

    Human Mutation

    Volume 13, Issue 2, 1999, Pages: 99–115, William S. Oetting and Richard A. King

    Version of Record online : 6 APR 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C

  20. Prader-Willi and Angelman syndromes: Sister imprinted disorders

    American Journal of Medical Genetics

    Volume 97, Issue 2, Summer 2000, Pages: 136–146, Suzanne B. Cassidy, Elisabeth Dykens and Charles A. Williams

    Version of Record online : 28 NOV 2000, DOI: 10.1002/1096-8628(200022)97:2<136::AID-AJMG5>3.0.CO;2-V