These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
212 related articles for article (PubMed ID: 16093596)
21. Hermansky-Pudlak syndrome and related disorders of organelle formation. Huizing M; Anikster Y; Gahl WA Traffic; 2000 Nov; 1(11):823-35. PubMed ID: 11208073 [TBL] [Abstract][Full Text] [Related]
22. Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. Sandrock-Lang K; Bartsch I; Buechele N; Koehler U; Simon-Gabriel CP; Eckenweiler M; Zieger B Blood Cells Mol Dis; 2017 Sep; 67():75-80. PubMed ID: 28284561 [TBL] [Abstract][Full Text] [Related]
23. Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA. Sarangarajan R; Budev A; Zhao Y; Gahl WA; Boissy RE J Invest Dermatol; 2001 Sep; 117(3):641-6. PubMed ID: 11564171 [TBL] [Abstract][Full Text] [Related]
24. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Anikster Y; Huizing M; White J; Shevchenko YO; Fitzpatrick DL; Touchman JW; Compton JG; Bale SJ; Swank RT; Gahl WA; Toro JR Nat Genet; 2001 Aug; 28(4):376-80. PubMed ID: 11455388 [TBL] [Abstract][Full Text] [Related]
25. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Morgan NV; Pasha S; Johnson CA; Ainsworth JR; Eady RA; Dawood B; McKeown C; Trembath RC; Wilde J; Watson SP; Maher ER Am J Hum Genet; 2006 Jan; 78(1):160-6. PubMed ID: 16385460 [TBL] [Abstract][Full Text] [Related]
26. A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5. Korswagen LA; Huizing M; Simsek S; Janssen JJ; Zweegman S Eur J Haematol; 2008 Apr; 80(4):356-60. PubMed ID: 18182080 [TBL] [Abstract][Full Text] [Related]
27. An intractable case of Hermansky-Pudlak syndrome. Kanazu M; Arai T; Sugimoto C; Kitaichi M; Akira M; Abe Y; Hozumi Y; Suzuki T; Inoue Y Intern Med; 2014; 53(22):2629-34. PubMed ID: 25400188 [TBL] [Abstract][Full Text] [Related]
28. Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. Griffin AE; Cobb BR; Anderson PD; Claassen DA; Helip-Wooley A; Huizing M; Gahl WA Clin Genet; 2005 Jul; 68(1):23-30. PubMed ID: 15952982 [TBL] [Abstract][Full Text] [Related]
29. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Huizing M; Scher CD; Strovel E; Fitzpatrick DL; Hartnell LM; Anikster Y; Gahl WA Pediatr Res; 2002 Feb; 51(2):150-8. PubMed ID: 11809908 [TBL] [Abstract][Full Text] [Related]
30. Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. Kirshenbaum AS; Cruse G; Desai A; Bandara G; Leerkes M; Lee CC; Fischer ER; O'Brien KJ; Gochuico BR; Stone K; Gahl WA; Metcalfe DD PLoS One; 2016; 11(7):e0159177. PubMed ID: 27459687 [TBL] [Abstract][Full Text] [Related]
31. Hermansky-Pudlak syndrome with a novel genetic variant in McElvaney OJ; Huizing M; Gahl WA; O'Donovan P; Horan D; Logan PM; Reeves EP; McElvaney NG Thorax; 2018 Nov; 73(11):1085-1088. PubMed ID: 29941477 [TBL] [Abstract][Full Text] [Related]
32. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. Wei A; Yuan Y; Bai D; Ma J; Hao Z; Zhang Y; Yu J; Zhou Z; Yang L; Yang X; Li L; Li W Pigment Cell Melanoma Res; 2016 Nov; 29(6):702-706. PubMed ID: 27593200 [TBL] [Abstract][Full Text] [Related]
33. Hermansky-Pudlak syndrome in two African-American brothers. Merideth MA; Vincent LM; Sparks SE; Hess RA; Manoli I; O'Brien KJ; Tsilou E; White JG; Huizing M; Gahl WA Am J Med Genet A; 2009 May; 149A(5):987-92. PubMed ID: 19334085 [TBL] [Abstract][Full Text] [Related]
34. MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro. Ahuja S; Knudsen L; Chillappagari S; Henneke I; Ruppert C; Korfei M; Gochuico BR; Bellusci S; Seeger W; Ochs M; Guenther A; Mahavadi P Am J Physiol Lung Cell Mol Physiol; 2016 Mar; 310(6):L519-31. PubMed ID: 26719147 [TBL] [Abstract][Full Text] [Related]
35. Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism. Gwynn B; Ciciotte SL; Hunter SJ; Washburn LL; Smith RS; Andersen SG; Swank RT; Dell'Angelica EC; Bonifacino JS; Eicher EM; Peters LL Blood; 2000 Dec; 96(13):4227-35. PubMed ID: 11110696 [TBL] [Abstract][Full Text] [Related]
37. The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene. Wei A; Lian S; Wang L; Li W J Dermatol Sci; 2009 Nov; 56(2):130-2. PubMed ID: 19665357 [No Abstract] [Full Text] [Related]
38. Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome. Pennamen P; Tingaud-Sequeira A; Michaud V; Morice-Picard F; Plaisant C; Vincent-Delorme C; Giuliano F; Azarnoush S; Capri Y; Marçon C; Lacombe D; Lasseaux E; Arveiler B Pigment Cell Melanoma Res; 2021 Jan; 34(1):132-135. PubMed ID: 32687635 [TBL] [Abstract][Full Text] [Related]
39. Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations. Loredana Asztalos M; Schafernak KT; Gray J; Berry A; Paller AS; Mancini AJ Pediatr Dermatol; 2017 Nov; 34(6):638-646. PubMed ID: 29044644 [TBL] [Abstract][Full Text] [Related]
40. A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China. Wu W; Lin K; Yang Y; Dong Z; Zhang T; Lei W; Yang W; Yang Z Medicine (Baltimore); 2019 Aug; 98(33):e16899. PubMed ID: 31415434 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]