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There are 7650941 results for: content related to: A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population

  1. 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

  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. 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

  4. 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

  5. Hopi Indians, “cultural” selection, and albinism

    American Journal of Physical Anthropology

    Volume 121, Issue 2, June 2003, Pages: 151–156, Philip W. Hedrick

    Version of Record online : 21 FEB 2003, DOI: 10.1002/ajpa.10180

  6. 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

  7. 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

  8. You have free access to this content
    Increasing the complexity: new genes and new types of albinism

    Pigment Cell & Melanoma Research

    Volume 27, Issue 1, January 2014, Pages: 11–18, Lluís Montoliu, Karen Grønskov, Ai-Hua Wei, Mónica Martínez-García, Almudena Fernández, Benoît Arveiler, Fanny Morice-Picard, Saima Riazuddin, Tamio Suzuki, Zubair M. Ahmed, Thomas Rosenberg and Wei Li

    Version of Record online : 17 OCT 2013, DOI: 10.1111/pcmr.12167

  9. Albinism: Genetics

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    eLS

    William S Oetting

    Published Online : 15 DEC 2011, DOI: 10.1002/9780470015902.a0006081.pub2

  10. Abnormal lateral geniculate nucleus and optic chiasm in human albinism

    Journal of Comparative Neurology

    Volume 522, Issue 11, 01 August 2014, Pages: 2680–2687, Larissa Mcketton, Krista R. Kelly and Keith A. Schneider

    Version of Record online : 12 APR 2014, DOI: 10.1002/cne.23565

  11. Retinal abnormalities in human albinism translate into a reduction of grey matter in the occipital cortex

    European Journal of Neuroscience

    Volume 22, Issue 10, November 2005, Pages: 2475–2480, Elisabeth A. H. von dem Hagen, Gavin C. Houston, Michael B. Hoffmann, Glen Jeffery and Antony B. Morland

    Version of Record online : 18 NOV 2005, DOI: 10.1111/j.1460-9568.2005.04433.x

  12. Malignant amelanotic melanoma developing from an intradermal naevus in a patient with oculocutaneous albinism

    Clinical and Experimental Dermatology

    Volume 34, Issue 8, December 2009, Pages: e590–e593, C. Y. Wu, H. W. Gao and C. P. Chiang

    Version of Record online : 22 MAY 2009, DOI: 10.1111/j.1365-2230.2009.03261.x

  13. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 466–469, William S. Oetting, Jacy Pietsch, Marcia J. Brott, Sarah Savage, James P. Fryer, C. Gail Summers and Richard A. King

    Version of Record online : 10 FEB 2009, DOI: 10.1002/ajmg.a.32654

  14. You have free access to this content
    Abstracts

    Pigment Cell Research

    Volume 19, Issue 5, October 2006, Pages: 490–548,

    Version of Record online : 1 SEP 2006, DOI: 10.1111/j.1600-0749.2006.00339_2.x

  15. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient

    Pigment Cell Research

    Volume 19, Issue 3, June 2006, Pages: 239–242, Caroline Rooryck, Christel Roudaut, Eulalie Robine, Jörg Müsebeck and Benoît Arveiler

    Version of Record online : 10 MAR 2006, DOI: 10.1111/j.1600-0749.2006.00298.x

  16. Barriers Natural and Unnatural: Islamiento as a Central Metaphor in Kuna Ecotourism

    Bulletin of Latin American Research

    Volume 30, Issue 1, January 2011, Pages: 35–49, JANET M. CHERNELA

    Version of Record online : 6 OCT 2010, DOI: 10.1111/j.1470-9856.2010.00447.x

  17. The birth of design: a Kuna theory of body and personhood

    Journal of the Royal Anthropological Institute

    Volume 16, Issue 3, September 2010, Pages: 480–495, Paolo Fortis

    Version of Record online : 5 AUG 2010, DOI: 10.1111/j.1467-9655.2010.01635.x

  18. Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1

    Clinical & Experimental Ophthalmology

    Volume 38, Issue 1, January/February 2010, Pages: 37–42, Jing Liu, Kwong-Wai Choy, Leo WL Chan, Tak-Yeung Leung, Pancy OS Tam, Sylvia WY Chiang, Dennis SC Lam, Chi-Pui Pang and Timothy YY Lai

    Version of Record online : 18 DEC 2009, DOI: 10.1111/j.1442-9071.2009.02220.x

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    Optical coherence tomography is helpful in the diagnosis of foveal hypoplasia

    Acta Ophthalmologica

    Volume 88, Issue 4, June 2010, Pages: 439–442, Gerd Holmström, Urban Eriksson, Kerstin Hellgren and Eva Larsson

    Version of Record online : 2 JUN 2009, DOI: 10.1111/j.1755-3768.2009.01533.x

  20. Skin Pigmentation: Genetics

    Standard Article

    eLS

    Jonathan L Rees

    Published Online : 27 JAN 2006, DOI: 10.1038/npg.els.0006035