Literature DB >> 17554367

Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.

Wendy Westbroek, David Adams, Marjan Huizing, Amy Koshoffer, Heidi Dorward, Bradford Tinloy, Jennifer Parkes, Amanda Helip-Wooley, Robert Kleta, Ekaterina Tsilou, Patrice Duvernay, Kathleen B Digre, Donnell J Creel, James G White, Raymond E Boissy, William A Gahl.   

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Year:  2007        PMID： 17554367     DOI： 10.1038/sj.jid.5700899

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  29 in total

1.  Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

Authors:  Irini Manoli; Gretchen Golas; Wendy Westbroek; Thierry Vilboux; Thomas C Markello; Wendy Introne; Dawn Maynard; Ben Pederson; Ekaterini Tsilou; Michael B Jordan; P Suzanne Hart; James G White; William A Gahl; Marjan Huizing
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

Review 2.  Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

Authors:  Marjan Huizing; Amanda Helip-Wooley; Wendy Westbroek; Meral Gunay-Aygun; William A Gahl
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

3.  Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.

Authors:  Vikas Bhambhani; Wendy J Introne; Codrin Lungu; Andrew Cullinane; Camilo Toro
Journal:  Mov Disord       Date:  2013-02       Impact factor: 10.338

4.  Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

Authors:  Aleksandra Gil-Krzewska; Stephanie M Wood; Yousuke Murakami; Victoria Nguyen; Samuel C C Chiang; Andrew R Cullinane; Giovanna Peruzzi; William A Gahl; John E Coligan; Wendy J Introne; Yenan T Bryceson; Konrad Krzewski
Journal:  J Allergy Clin Immunol       Date:  2015-10-21       Impact factor: 10.793

5.  Chediak-Higashi syndrome: a review of the past, present, and future.

Authors:  Prashant Sharma; Elena-Raluca Nicoli; Jenny Serra-Vinardell; Marie Morimoto; Camilo Toro; May Christine V Malicdan; Wendy J Introne
Journal:  Drug Discov Today Dis Models       Date:  2019-12-09

Review 6.  The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

Authors:  Andrew R Cullinane; Alejandro A Schäffer; Marjan Huizing
Journal:  Traffic       Date:  2013-04-24       Impact factor: 6.215

7.  Two novel mutations identified in an african-american child with chediak-higashi syndrome.

Authors:  Kerry Morrone; Yanhua Wang; Marjan Huizing; Elie Sutton; James G White; William A Gahl; Karen Moody
Journal:  Case Rep Med       Date:  2010-03-24

8.  Neurologic involvement in patients with atypical Chediak-Higashi disease.

Authors:  Wendy J Introne; Wendy Westbroek; Andrew R Cullinane; Catherine A Groden; Vikas Bhambhani; Gretchen A Golas; Eva H Baker; Tanya J Lehky; Joseph Snow; Shira G Ziegler; David R Adams; Heidi M Dorward; Richard A Hess; Marjan Huizing; William A Gahl; Camilo Toro
Journal:  Neurology       Date:  2016-03-04       Impact factor: 9.910

Review 9.  Chemical individuality: concept and outlook.

Authors:  W A Gahl
Journal:  J Inherit Metab Dis       Date:  2008-10-07       Impact factor: 4.982

10.  Peripheral nervous system manifestations of Chediak-Higashi disease.

Authors:  Tanya J Lehky; Catherine Groden; Barbara Lear; Camilo Toro; Wendy J Introne
Journal:  Muscle Nerve       Date:  2016-12-16       Impact factor: 3.217
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