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There are 9128 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. 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

    Article first published online : 30 APR 2008, DOI: 10.1002/ajmg.a.32321

  3. 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

    Article first published online : 14 FEB 2005, DOI: 10.1002/humu.9318

  4. 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

    Article first published online : 28 JUL 2006, DOI: 10.1111/j.1600-0749.1994.tb00068.x

  5. 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

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

  6. 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

  7. You have free access to this content
    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

    Article first published online : 1 MAY 2002, DOI: 10.1034/j.1600-0749.2001.140203.x

  8. 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

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

  9. 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

    Article first published online : 30 APR 2013, DOI: 10.1002/humu.22315

  10. 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

    Article first published online : 27 MAR 2007, DOI: 10.1002/pd.1713

  11. Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans

    Human Mutation

    Volume 7, Issue 4, 1996, Pages: 370–373, Donna Durham-Pierre, Richard A. King, John M. Naber, Steve Laken and Murray H. Brilliant

    Article first published online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#

  12. 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

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

  13. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

    Human Mutation

    Volume 10, Issue 2, 1997, Pages: 175–177, Richard A. Spritz, Seung-Taek Lee, Kazuyoshi Fukai, Karen Brondum-Nielsen, David Chitayat, Mark H. Lipson, Maria A. Musarella, Ada Rosenmann and Richard G. Weleber

    Article first published online : 8 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X

  14. 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

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

  15. Synergistic interaction of the OCA2 and OCA3 genes in a family

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2427–2430, Pei-Wen Chiang, Anne B. Fulton, Elaine Spector and Fuki M. Hisama

    Article first published online : 4 AUG 2008, DOI: 10.1002/ajmg.a.32453

  16. High frequency of the Ala481Thr mutation of the P gene in the Japanese population

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 4, 1 May 2003, Pages: 402–403, Tamio Suzuki, Yoshinori Miyamura and Yasushi Tomita

    Article first published online : 11 FEB 2003, DOI: 10.1002/ajmg.a.20044

  17. Model averaging in linkage analysis

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 141B, Issue 4, 5 June 2006, Pages: 344–353, Steven Matthysse

    Article first published online : 1 MAY 2006, DOI: 10.1002/ajmg.b.30256

  18. You have free access to this content
    Watson's analytical approach for immunofluorescence histogram analysis

    Cytometry Part A

    Volume 75A, Issue 9, September 2009, Pages: 798–802, Francesco Lampariello

    Article first published online : 13 JUL 2009, DOI: 10.1002/cyto.a.20757

  19. 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

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

  20. You have free access to this content
    Improved compensation in flow cytometry by multivariable optimization

    Cytometry Part A

    Volume 79A, Issue 5, May 2011, Pages: 356–360, István P. Sugár, Joanna González-Lergier and Stuart C. Sealfon

    Article first published online : 11 APR 2011, DOI: 10.1002/cyto.a.21062