Literature DB >> 15173252

P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome.

N A Garrison1, Z Yi, O Cohen-Barak, M Huizing, L M Hartnell, W A Gahl, M H Brilliant.   

Abstract

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Year:  2004        PMID： 15173252      PMCID： PMC1735794          DOI： 10.1136/jmg.2003.014902

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  Relationship between foveal cone specialization and pit morphology in albinism.

Authors:  Melissa A Wilk; John T McAllister; Robert F Cooper; Adam M Dubis; Teresa N Patitucci; Phyllis Summerfelt; Jennifer L Anderson; Kimberly E Stepien; Deborah M Costakos; Thomas B Connor; William J Wirostko; Pei-Wen Chiang; Alfredo Dubra; Christine A Curcio; Murray H Brilliant; C Gail Summers; Joseph Carroll
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-05-20       Impact factor: 4.799

2.  Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Authors:  Saunie M Hutton; Richard A Spritz
Journal:  J Invest Dermatol       Date:  2008-05-08       Impact factor: 8.551

3.  Hermansky-Pudlak syndrome in two African-American brothers.

Authors:  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; William A Gahl
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802

4.  Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial.

Authors:  C Gail Summers; John E Connett; Ann M Holleschau; Jennifer L Anderson; Inge De Becker; Brian S McKay; Murray H Brilliant
Journal:  Clin Exp Ophthalmol       Date:  2014-05-05       Impact factor: 4.207

5.  Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.

Authors:  Despina Contopoulos-Ioannidis; Athanasios Evangeliou; Henk ter Laak; Bert de Vries; Rolph Pfundt; Hans Scheffer; Jan Smeitink; Meropi Tzoufi; Alexandros Makis; Evangelos Marinos; Richard Hess; David Adams; Marjan Huizing; Eva Morava
Journal:  Am J Med Genet A       Date:  2008-12-01       Impact factor: 2.802

6.  An intracellular anion channel critical for pigmentation.

Authors:  Nicholas W Bellono; Iliana E Escobar; Ariel J Lefkovith; Michael S Marks; Elena Oancea
Journal:  Elife       Date:  2014-12-16       Impact factor: 8.140
  6 in total

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