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There are 100614 results for: content related to: Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient

  1. 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

  2. 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

  3. The Etiology of Oculocutaneous Albinism (OCA) Type II: The Pink Protein Modulates the Processing and Transport of Tyrosinase

    Pigment Cell Research

    Volume 15, Issue 3, June 2002, Pages: 217–224, Kazutomo Toyofuku, Julio C. Valencia, Tsuneto Kushimoto, Gertrude-E. Costin, Victoria M. Virador, Wilfred D. Vieira, Victor J. Ferrans and Vincent J. Hearing

    Version of Record online : 22 MAY 2002, DOI: 10.1034/j.1600-0749.2002.02007.x

  4. 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

  5. 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

  6. Pigmentary function and evolution of tyrp1 gene duplicates in fish

    Pigment Cell & Melanoma Research

    Volume 22, Issue 6, December 2009, Pages: 839–850, Ingo Braasch, Daniel Liedtke, Jean-Nicolas Volff and Manfred Schartl

    Version of Record online : 29 JUL 2009, DOI: 10.1111/j.1755-148X.2009.00614.x

  7. You have free access to this content
    Hermansky–Pudlak syndrome: a disease of protein trafficking and organelle function

    Pigment Cell Research

    Volume 19, Issue 1, February 2006, Pages: 19–42, Maria L. Wei

    Version of Record online : 18 JAN 2006, DOI: 10.1111/j.1600-0749.2005.00289.x

  8. 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

  9. 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

  10. 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

  11. You have free access to this content
    Abstracts

    Pigment Cell & Melanoma Research

    Version of Record online : 14 SEP 2015, DOI: 10.1111/pcmr.12415

  12. Abstracts - Poster Presentations

    Pigment Cell Research

    Volume 18, Issue s1, October 2005, Pages: 54–84,

    Version of Record online : 11 AUG 2005, DOI: 10.1111/j.1600-0749.2005.00259.x

  13. 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

  14. 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

  15. Abstracts of the Conjoint Meeting of XXth International Pigment Cell Conference & Vth International Melanoma Research Congress

    Pigment Cell & Melanoma Research

    Volume 21, Issue 2, April 2008, Pages: 243–336,

    Version of Record online : 21 APR 2008, DOI: 10.1111/j.1755-148X.2008.00458_3.x

  16. Abstracts - Oral Presentations

    Pigment Cell Research

    Volume 18, Issue s1, October 2005, Pages: 12–53,

    Version of Record online : 11 AUG 2005, DOI: 10.1111/j.1600-0749.2005.00258.x

  17. Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene

    British Journal of Dermatology

    Volume 163, Issue 3, September 2010, Pages: 487–494, M. Sengupta, M. Mondal, P. Jaiswal, S. Sinha, M. Chaki, S. Samanta and K. Ray

    Version of Record online : 26 APR 2010, DOI: 10.1111/j.1365-2133.2010.09830.x

  18. Genetics of Eye Colour

    Standard Article

    eLS

    David Duffy

    Published Online : 16 MAR 2015, DOI: 10.1002/9780470015902.a0024646

  19. Oculocutaneous Albinism Type 1: The Last 100 Years

    Pigment Cell Research

    Volume 16, Issue 3, June 2003, Pages: 307–311, William S. Oetting, James P. Fryer, Sabitha Shriram and Richard A. King

    Version of Record online : 13 MAY 2003, DOI: 10.1034/j.1600-0749.2003.00045.x

  20. Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin

    Journal of the European Academy of Dermatology and Venereology

    Volume 25, Issue 12, December 2011, Pages: 1369–1380, S. Ito and K. Wakamatsu

    Version of Record online : 14 NOV 2011, DOI: 10.1111/j.1468-3083.2011.04278.x