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There are 5134 results for: content related to: Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4

  1. Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome

    Management of Genetic Syndromes

    Richard A. King, C. Gail Summers, Pages: 53–68, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch5

  2. 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

  3. Albinism and Hermansky-Pudlak Syndrome

    Standard Article

    Management of Genetic Syndromes

    Richard A. King and C. Gail Summers

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs005

  4. 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

  5. Segregation analysis of brown oculocutaneous albinism

    Clinical Genetics

    Volume 29, Issue 6, June 1986, Pages: 496–501, Richard A. King and Stephen S. Rich

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1986.tb00550.x

  6. 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

  7. 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

  8. 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

  9. Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele

    Prenatal Diagnosis

    Volume 21, Issue 3, March 2001, Pages: 200–201, Yao-Yuan Hsieh, Jer-Yuarn Wu, Chi-Chen Chang, Fuu-Jen Tsai, Cheng-Chun Lee, Horng-Der Tsai and Chang-Hai Tsai

    Version of Record online : 6 FEB 2001, DOI: 10.1002/1097-0223(200103)21:3<200::AID-PD31>3.0.CO;2-J

  10. You have free access to this content
    Mutation analysis of the tyrosinase gene in oculocutaneous albinism

    Human Mutation

    Volume 17, Issue 4, April 2001, Page: 352, Olivier Camand, Dominique Marchant, Sandrine Boutboul, Marie Péquignot, Sylvie Odent, Hélène Dollfus, Joanne Sutherland, Alex Levin, Maurice Menasche, Cécile Marsac, Jean-Louis Dufier, Elise Heon and Marc Abitbol

    Version of Record online : 2 APR 2001, DOI: 10.1002/humu.38

  11. You have free access to this content
    Oculocutaneous Albinism in Sub-Saharan Africa: Adverse Sun-Associated Health Effects and Photoprotection

    Photochemistry and Photobiology

    Volume 91, Issue 1, January/February 2015, Pages: 27–32, Caradee Y. Wright, Mary Norval and Richard W. Hertle

    Version of Record online : 8 NOV 2014, DOI: 10.1111/php.12359

  12. Oculocutaneous albinism

    Journal of the European Academy of Dermatology and Venereology

    Volume 17, Issue 3, May 2003, Pages: 251–256, JF Okulicz, RS Shah, RA Schwartz and CK Janniger

    Version of Record online : 16 APR 2003, DOI: 10.1046/j.1468-3083.2003.00767.x

  13. Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan

    Human Mutation

    Volume 14, Issue 6, December 1999, Page: 542, Chang-Hai Tsai, Fuu-Jen Tsai, Jer-Yuarn Wu, Shuan-Pei Lin, Jang-Gowth Chang, Chi-Fan Yang and Cheng-Chun Lee

    Version of Record online : 22 NOV 1999, DOI: 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU14>3.0.CO;2-3

  14. A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism

    Animal Genetics

    Volume 48, Issue 5, October 2017, Pages: 619–621, M. Caduff, A. Bauer, V. Jagannathan and T. Leeb

    Version of Record online : 24 JUL 2017, DOI: 10.1111/age.12582

  15. Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism

    Clinical Genetics

    Volume 68, Issue 2, August 2005, Pages: 182–184,

    Version of Record online : 4 MAY 2005, DOI: 10.1111/j.1399-0004.2005.00460.x

  16. Analysis of Mutations in the Copper B Binding Region Associated With Type I (Tyrosinase-Related) Oculocutaneous Albinism

    Pigment Cell Research

    Volume 5, Issue 5, November 1992, Pages: 274–278, WILLIAM S. OETTING and RICHARD A. KING

    Version of Record online : 28 JUL 2006, DOI: 10.1111/j.1600-0749.1992.tb00549.x

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    The Tyrosinase Gene and Oculocutaneous Albinism Type 1 (OCA1): A Model for Understanding the Molecular Biology of Melanin Formation

    Pigment Cell Research

    Volume 13, Issue 5, October 2000, Pages: 320–325, WILLIAM S. OETTING

    Version of Record online : 25 DEC 2001, DOI: 10.1034/j.1600-0749.2000.130503.x

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    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

  19. 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

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

  20. DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

    Prenatal Diagnosis

    Volume 15, Issue 4, April 1995, Pages: 345–349, Tzipora C. Falik-Borenstein, Stuart A. Holmes, Zvi Borochowitz, Abi Levin, A. Rosenmann and Richard A. Spritz

    Version of Record online : 14 DEC 2005, DOI: 10.1002/pd.1970150408