Search Results

There are 15654 results for: content related to: Hermansky–Pudlak Syndrome: Vesicle Formation from Yeast to Man

  1. You have free access to this content
    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

  2. 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

  3. You have free access to this content
    Hermansky–Pudlak Syndrome and Related Disorders of Organelle Formation

    Traffic

    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

  4. You have free access to this content
    Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

    Traffic

    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

  5. Molecular Genetics of Hermansky–Pudlak Syndrome

    Standard Article

    eLS

    Andrew R Cullinane, Marjan Huizing and William A Gahl

    Published Online : 15 FEB 2013, DOI: 10.1002/9780470015902.a0024328

  6. You have free access to this content
    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

  7. 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

  8. You have free access to this content
    Interaction of Hermansky-Pudlak Syndrome Genes in the Regulation of Lysosome-Related Organelles

    Traffic

    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

  9. You have free access to this content
    Characterization of BLOC-2, a Complex Containing the Hermansky–Pudlak Syndrome Proteins HPS3, HPS5 and HPS6

    Traffic

    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

  10. Novel mutations in the HPS1 gene among Puerto Rican patients

    Clinical Genetics

    Volume 79, Issue 6, June 2011, Pages: 561–567, C Carmona-Rivera, RA Hess, K O'Brien, G Golas, E Tsilou, JG White, WA Gahl and M Huizing

    Version of Record online : 28 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01491.x

  11. Membranous complexes characteristic of melanocytes derived from patients with Hermansky–Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment

    Pigment Cell Research

    Volume 18, Issue 6, December 2005, Pages: 417–426, Justin W. Smith, Amy Koshoffer, Randal E. Morris and Raymond E. Boissy

    Version of Record online : 16 AUG 2005, DOI: 10.1111/j.1600-0749.2005.00265.x

  12. You have free access to this content
    The Drosophila Pigmentation Gene pink (p) Encodes a Homologue of Human Hermansky–Pudlak Syndrome 5 (HPS5)

    Traffic

    Volume 8, Issue 2, February 2007, Pages: 154–168, Juan M. Falcón-Pérez, Rafael Romero-Calderón, Elizabeth S. Brooks, David E. Krantz and Esteban C. Dell'Angelica

    Version of Record online : 16 NOV 2006, DOI: 10.1111/j.1600-0854.2006.00514.x

  13. You have free access to this content
    Identifying Putative Promoter Regions of Hermansky-Pudlak Syndrome Genes by Means of Phylogenetic Footprinting

    Annals of Human Genetics

    Volume 73, Issue 4, July 2009, Pages: 422–428, Horia Stanescu, Tyra G. Wolfsberg, R. Travis Moreland, Mariam H. Ayub, Elizabeth Erickson, Wendy Westbroek, Marjan Huizing, William A. Gahl and Amanda Helip-Wooley

    Version of Record online : 10 JUN 2009, DOI: 10.1111/j.1469-1809.2009.00525.x

  14. Poor response to desmopressin acetate (DDAVP) in children with Hermansky–Pudlak syndrome

    Pediatric Blood & Cancer

    Volume 44, Issue 1, January 2005, Pages: 51–54, Ana Cordova, Nilka J. Barrios, Idith Ortiz, Enid Rivera, Carmen Cadilla and Pedro J. Santiago-Borrero

    Version of Record online : 14 SEP 2004, DOI: 10.1002/pbc.20210

  15. You have free access to this content
    The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances

    Traffic

    Volume 6, Issue 7, July 2005, Pages: 525–533, Santiago M. Di Pietro and Esteban C. Dell'Angelica

    Version of Record online : 21 MAY 2005, DOI: 10.1111/j.1600-0854.2005.00299.x

  16. You have free access to this content
    Hypopigmentation in Hermansky–Pudlak syndrome

    The Journal of Dermatology

    Volume 40, Issue 5, May 2013, Pages: 325–329, Ai-Hua Wei, Xin He and Wei Li

    Version of Record online : 14 MAY 2013, DOI: 10.1111/1346-8138.12025

  17. 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

  18. 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

  19. 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

  20. You have free access to this content
    Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky–Pudlak syndrome: role of insC974 in platelet function and clinical relevance

    British Journal of Haematology

    Volume 123, Issue 1, October 2003, Pages: 132–138, Rocio González-Conejero, José Rivera, Ginés Escolar, Isabel Zuazu-Jausoro, Vicente Vicente and Javier Corral

    Version of Record online : 26 SEP 2003, DOI: 10.1046/j.1365-2141.2003.04557.x