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There are 7833 results for: content related to: Metastatic Cutaneous Involvement of Granulomatous Colitis in Hermansky-Pudlak Syndrome

  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

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    Hermansky–Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis

    Pigment Cell & Melanoma Research

    Volume 26, Issue 2, March 2013, Pages: 176–192, Ai-Hua Wei and Wei Li

    Version of Record online : 31 DEC 2012, DOI: 10.1111/pcmr.12051

  3. Hermansky–Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 2, 1 June 2004, Pages: 201–207, Esther B. Bachli, Thomas Brack, Elisabeth Eppler, Thomas Stallmach, Ralph M. Trüeb, Marjan Huizing and William A. Gahl

    Version of Record online : 11 FEB 2004, DOI: 10.1002/ajmg.a.20683

  4. Albinism and Hermansky-Pudlak Syndrome

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    Management of Genetic Syndromes

    Richard A. King and C. Gail Summers

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

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    Hermansky–Pudlak Syndrome and Pale Ear: Melanosome-Making for the Millennium

    Pigment Cell Research

    Volume 13, Issue 1, February 2000, Pages: 15–20, Richard A. Spritz

    Version of Record online : 5 JAN 2002, DOI: 10.1034/j.1600-0749.2000.130104.x

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    Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

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    Volume 5, Issue 9, September 2004, Pages: 711–722, Marjan Huizing, Richard Hess, Heidi Dorward, David A. Claassen, Amanda Helip-Wooley, Robert Kleta, Muriel I. Kaiser-Kupfer, James G. White and William A. Gahl

    Version of Record online : 6 JUL 2004, DOI: 10.1111/j.1600-0854.2004.00208.x

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    Hermansky–Pudlak Syndrome and Related Disorders of Organelle Formation

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    Volume 1, Issue 11, November 2000, Pages: 823–835, Marjan Huizing, Yair Anikster and William A. Gahl

    Version of Record online : 3 SEP 2008, DOI: 10.1034/j.1600-0854.2000.011103.x

  8. Mouse Models of Hermansky Pudlak Syndrome: A Review

    Pigment Cell Research

    Volume 11, Issue 2, April 1998, Pages: 60–80, RICHARD T. SWANK, EDWARD K. NOVAK, MICHAEL P. McGARRY, MICHAEL E. RUSINIAK and LIJUN FENG

    Version of Record online : 28 JUL 2006, DOI: 10.1111/j.1600-0749.1998.tb00713.x

  9. Ceroid pigment deposition in circulating blood monocytes and T lymphocytes in Hermansky-Pudlak syndrome: An ultrastructural study

    Pathology International

    Volume 45, Issue 11, November 1995, Pages: 866–870, Tsutomu Sakuma, Nobuhira Monma, Ryoichi Satodate, Takashi Satoh, Rikio Takeda and Shin-Ichiro Kuriya

    Version of Record online : 12 DEC 2008, DOI: 10.1111/j.1440-1827.1995.tb03407.x

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    A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky–Pudlak Syndrome type 8

    Pigment Cell & Melanoma Research

    Volume 25, Issue 5, September 2012, Pages: 584–591, Andrew R. Cullinane, James A. Curry, Gretchen Golas, James Pan, Carmelo Carmona-Rivera, Richard A. Hess, James G. White, Marjan Huizing and William A. Gahl

    Version of Record online : 2 AUG 2012, DOI: 10.1111/j.1755-148X.2012.01029.x

  11. 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

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    Interaction of Hermansky-Pudlak Syndrome Genes in the Regulation of Lysosome-Related Organelles

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    Volume 7, Issue 7, July 2006, Pages: 779–792, Rashi Gautam, Edward K. Novak, Jian Tan, Kazumasa Wakamatsu, Shosuke Ito and Richard T. Swank

    Version of Record online : 5 MAY 2006, DOI: 10.1111/j.1600-0854.2006.00431.x

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    Characterization of BLOC-2, a Complex Containing the Hermansky–Pudlak Syndrome Proteins HPS3, HPS5 and HPS6

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    Volume 5, Issue 4, April 2004, Pages: 276–283, Santiago M. Di Pietro, Juan M. Falcón-Pérez and Esteban C. Dell'Angelica

    Version of Record online : 18 FEB 2004, DOI: 10.1111/j.1600-0854.2004.0171.x

  14. Multi-organellar disorders of pigmentation: tied up in traffic

    Clinical Genetics

    Volume 55, Issue 5, May 1999, Pages: 309–317, Richard A Spritz

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550503.x

  15. Hermansky–Pudlak syndrome in two African-American brothers

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 987–992, Melissa A. Merideth, Lisa M. Vincent, Susan E. Sparks, Richard A. Hess, Irini Manoli, Kevin J. O'Brien, Ekaterina Tsilou, James G. White, Marjan Huizing and William A. Gahl

    Version of Record online : 30 MAR 2009, DOI: 10.1002/ajmg.a.32757

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    Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

    Human Mutation

    Volume 20, Issue 6, December 2002, Page: 482, Christina R. Hermos, Marjan Huizing, Muriel I. Kaiser-Kupfer and William A. Gahl

    Version of Record online : 19 NOV 2002, DOI: 10.1002/humu.9097

  17. Studies on a new variant of the Hermansky-Pudlak syndrome: Qualitative, ultrastructural, and functional abnormalities of the platelet-dense bodies associated with a phospholipase a defect

    American Journal of Hematology

    Volume 4, Issue 4, 1978, Pages: 387–399, Francine Rendu, Jeanine Breton-Gorius, Germain Trugnan, Hugo Castro-Malaspina, Jean-Marie Andrieu, Gilbert Bereziat, Marilyne Lebret and Jacques P. Caen

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajh.2830040410

  18. Heterozygous HPS1 mutations in a case of Hermansky–Pudlak syndrome with giant melanosomes

    British Journal of Dermatology

    Volume 143, Issue 3, September 2000, Pages: 635–640, T. Horikawa, K. Araki, K. Fukai, M. Ueda, T. Ueda, S. Ito and M. Ichihashi

    Version of Record online : 17 DEC 2003, DOI: 10.1111/j.1365-2133.2000.03725.x

  19. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics

    Human Mutation

    Volume 27, Issue 11, November 2006, Page: 1158, Nira Schreyer-Shafir, Marjan Huizing, Yair Anikster, Ziva Nusinker, Idit Bejarano-Achache, Genia Maftzir, Luba Resnik, Amanda Helip-Wooley, Wendy Westbroek, Libe Gradstein, Ada Rosenmann and Anat Blumenfeld

    Version of Record online : 13 OCT 2006, DOI: 10.1002/humu.9463

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    Platelet von Willebrand factor in Hermansky-Pudlak syndrome

    American Journal of Hematology

    Volume 59, Issue 2, October 1998, Pages: 115–120, Laurie P. McKeown, Kristin E. Hansmann, Olga Wilson, William Gahl, Harvey R. Gralnick, Kathryn E. Rosenfeld, Stephen J. Rosenfeld, McDonald K. Horne and Margaret E. Rick

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1096-8652(199810)59:2<115::AID-AJH3>3.0.CO;2-0