Literature DB >> 22275791

Hermansky-Pudlak syndrome complicated by pulmonary fibrosis.

Brett W Carter1.   

Abstract

Entities:  

Year:  2012        PMID： 22275791      PMCID： PMC3246861          DOI： 10.1080/08998280.2012.11928790

Source DB:  PubMed          Journal:  Proc (Bayl Univ Med Cent)        ISSN： 0899-8280


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  7 in total

1.  Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Authors:  Y Anikster; M Huizing; J White; Y O Shevchenko; D L Fitzpatrick; J W Touchman; J G Compton; S J Bale; R T Swank; W A Gahl; J R Toro
Journal:  Nat Genet       Date:  2001-08       Impact factor: 38.330

2.  Hermansky-pudlak syndrome: report of a case and review of the literature.

Authors:  Matthew T Hurford; Christopher Sebastiano
Journal:  Int J Clin Exp Pathol       Date:  2008-01-01

Review 3.  Hermansky-Pudlak syndrome with diffuse pulmonary fibrosis: radiologic-pathologic correlation.

Authors:  K Shimizu; T Matsumoto; G Miura; A Shimizu; H Awaya; N Matsunaga; I Ariyoshi; K Isiglo
Journal:  J Comput Assist Tomogr       Date:  1998 Mar-Apr       Impact factor: 1.826

4.  A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

Authors:  Andrew R Cullinane; James A Curry; Carmelo Carmona-Rivera; C Gail Summers; Carla Ciccone; Nicholas D Cardillo; Heidi Dorward; Richard A Hess; James G White; David Adams; Marjan Huizing; William A Gahl
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

5.  Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction. A case report and review of the literature.

Authors:  A Takahashi; T Yokoyama
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1984

6.  Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.

Authors:  Nilo A Avila; Mark Brantly; Ahalya Premkumar; Marjan Huizing; Andrew Dwyer; William A Gahl
Journal:  AJR Am J Roentgenol       Date:  2002-10       Impact factor: 3.959

7.  The Hermansky-Pudlak syndrome: radiographic features.

Authors:  B S Leitman; E J Balthazar; S M Garay; D P Naidich; D I McCauley
Journal:  Can Assoc Radiol J       Date:  1986-03       Impact factor: 2.248
  7 in total
  2 in total

Review 1.  Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Authors:  Glenn W Vicary; Yeidyly Vergne; Alberto Santiago-Cornier; Lisa R Young; Jesse Roman
Journal:  Ann Am Thorac Soc       Date:  2016-10

2.  Case series on Silvery Hair Syndromes: Single Center Experience.

Authors:  Sirisharani Siddiahgari; Santosh Kumar Soma; Chandravathi Penmetcha; Sandhya Vaddadi; Varshini Bandi; Lokesh Lingappa
Journal:  Indian J Dermatol       Date:  2022 Mar-Apr       Impact factor: 1.757
  2 in total

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