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There are 7218112 results for: content related to: Oculocutaneous albinism and skin cancer risk

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase

    Clinical and Experimental Dermatology

    Volume 40, Issue 7, October 2015, Pages: 774–780, S. A. Shah, N. Raheem, S. Daud, J. Mubeen, A. A. Shaikh, A. H. Baloch, A. Nadeem, M. Tayyab, M. E. Babar and J. Ahmad

    Version of Record online : 22 FEB 2015, DOI: 10.1111/ced.12612

  8. You have free access to this content
    Albinism in Europe

    The Journal of Dermatology

    Volume 40, Issue 5, May 2013, Pages: 319–324, Mónica Mártinez-García and Lluís Montoliu

    Version of Record online : 14 MAY 2013, DOI: 10.1111/1346-8138.12170

  9. 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

  10. 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

  11. 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

  12. Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation

    Pigment Cell & Melanoma Research

    Volume 24, Issue 2, April 2011, Pages: 275–281, Diego J. Hoyle, Imilce A. Rodriguez-Fernandez and Esteban C. Dell’Angelica

    Version of Record online : 17 DEC 2010, DOI: 10.1111/j.1755-148X.2010.00815.x

  13. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

    Pigment Cell & Melanoma Research

    Volume 27, Issue 1, January 2014, Pages: 59–71, Fanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, Audrey Gros, Jérome Toutain, Claudio Plaisant, Delphine Simon, Stéphane François, Brigitte Gilbert-Dussardier, Josseline Kaplan, Caroline Rooryck, Didier Lacombe and Benoit Arveiler

    Version of Record online : 23 OCT 2013, DOI: 10.1111/pcmr.12173

  14. 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

  15. Hairbulb tyrosinase activity in oculocutaneous albinism: Suggestions for pathway control and block location

    American Journal of Medical Genetics

    Volume 20, Issue 1, January 1985, Pages: 49–55, Richard A. King, David P. Olds, John M. Opitz and James F. Reynolds

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320200108

  16. XXIst International Pigment Cell Conference (IPCC)

    Pigment Cell & Melanoma Research

    Volume 24, Issue 4, August 2011, Pages: 742–863,

    Version of Record online : 18 AUG 2011, DOI: 10.1111/j.1755-148X.2011.00885.x

  17. You have free access to this content
    Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1–4 genes and practical aspects

    Pigment Cell & Melanoma Research

    Volume 21, Issue 5, October 2008, Pages: 583–587, Caroline Rooryck, Fanny Morice-Picard, Nursel H. Elçioglu, Didier Lacombe, Alain Taieb and Benoît Arveiler

    Version of Record online : 18 SEP 2008, DOI: 10.1111/j.1755-148X.2008.00496.x

  18. 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

  19. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families

    Prenatal Diagnosis

    Volume 29, Issue 10, October 2009, Pages: 939–946, Ada Rosenmann, Idit Bejarano-Achache, Dalia Eli, Genia Maftsir, Liliana Mizrahi-Meissonnier and Anat Blumenfeld

    Version of Record online : 22 JUL 2009, DOI: 10.1002/pd.2317

  20. 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