Literature DB >> 3980007

Hermansky-Pudlak syndrome: a clinicopathologic study.

R A Schinella, M A Greco, S M Garay, H Lackner, S R Wolman, E P Fazzini.   

Abstract

The Hermansky-Pudlak syndrome is a rare disease characterized by multisystemic involvement. Seven families with the disorder were identified in the Puerto Rican population of one municipal hospital, suggesting that the incidence in the Puerto Rican community is sufficient to warrant both dissemination of information about the disease and further investigation. The present study was an attempt to achieve both of these goals.

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Year:  1985        PMID: 3980007     DOI: 10.1016/s0046-8177(85)80230-6

Source DB:  PubMed          Journal:  Hum Pathol        ISSN: 0046-8177            Impact factor:   3.466


  4 in total

1.  A 25 year old woman presenting with bleeding disorder and nystagmus.

Authors:  M W Saif; J M Hamilton
Journal:  Postgrad Med J       Date:  2001-10       Impact factor: 2.401

2.  The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.

Authors:  J M Gardner; S C Wildenberg; N M Keiper; E K Novak; M E Rusiniak; R T Swank; N Puri; J N Finger; N Hagiwara; A L Lehman; T L Gales; M E Bayer; R A King; M H Brilliant
Journal:  Proc Natl Acad Sci U S A       Date:  1997-08-19       Impact factor: 11.205

3.  A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.

Authors:  S C Wildenberg; W S Oetting; C Almodóvar; M Krumwiede; J G White; R A King
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

Review 4.  Melanogenesis Connection with Innate Immunity and Toll-Like Receptors.

Authors:  Saaya Koike; Kenshi Yamasaki
Journal:  Int J Mol Sci       Date:  2020-12-21       Impact factor: 5.923

  4 in total

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