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.
174 related articles for article (PubMed ID: 39187771)
41. 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]
42. Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. Carmona-Rivera C; Golas G; Hess RA; Cardillo ND; Martin EH; O'Brien K; Tsilou E; Gochuico BR; White JG; Huizing M; Gahl WA J Invest Dermatol; 2011 Dec; 131(12):2394-400. PubMed ID: 21833017 [TBL] [Abstract][Full Text] [Related]
43. Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. Michaud V; Lasseaux E; Plaisant C; Verloes A; Perdomo-Trujillo Y; Hamel C; Elcioglu NH; Leroy B; Kaplan J; Jouk PS; Lacombe D; Fergelot P; Morice-Picard F; Arveiler B Pigment Cell Melanoma Res; 2017 Jan; 30(6):563-570. PubMed ID: 28640947 [TBL] [Abstract][Full Text] [Related]
44. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. Huizing M; Pederson B; Hess RA; Griffin A; Helip-Wooley A; Westbroek W; Dorward H; O'Brien KJ; Golas G; Tsilou E; White JG; Gahl WA J Med Genet; 2009 Dec; 46(12):803-10. PubMed ID: 19843503 [TBL] [Abstract][Full Text] [Related]
45. Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant. Sánchez-Guiu I; Torregrosa JM; Velasco F; Antón AI; Lozano ML; Vicente V; Rivera J Hamostaseologie; 2014; 34(4):301-9. PubMed ID: 25117010 [TBL] [Abstract][Full Text] [Related]
46. 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]
47. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Li W; Zhang Q; Oiso N; Novak EK; Gautam R; O'Brien EP; Tinsley CL; Blake DJ; Spritz RA; Copeland NG; Jenkins NA; Amato D; Roe BA; Starcevic M; Dell'Angelica EC; Elliott RW; Mishra V; Kingsmore SF; Paylor RE; Swank RT Nat Genet; 2003 Sep; 35(1):84-9. PubMed ID: 12923531 [TBL] [Abstract][Full Text] [Related]
48. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Bryan MM; Tolman NJ; Simon KL; Huizing M; Hufnagel RB; Brooks BP; Speransky V; Mullikin JC; Gahl WA; Malicdan MCV; Gochuico BR Mol Genet Metab; 2017 Apr; 120(4):378-383. PubMed ID: 28259707 [TBL] [Abstract][Full Text] [Related]
49. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. Cullinane AR; Curry JA; Golas G; Pan J; Carmona-Rivera C; Hess RA; White JG; Huizing M; Gahl WA Pigment Cell Melanoma Res; 2012 Sep; 25(5):584-91. PubMed ID: 22709368 [TBL] [Abstract][Full Text] [Related]
50. Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. Huizing M; Anikster Y; White JG; Gahl WA Mol Genet Metab; 2001; 74(1-2):217-25. PubMed ID: 11592818 [TBL] [Abstract][Full Text] [Related]
51. Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series. Rivera-Concepción J; Acevedo-Canabal J; Burés A; Vargas G; Cadilla C; Izquierdo NJ Eur J Haematol; 2019 May; 102(5):432-436. PubMed ID: 30659653 [TBL] [Abstract][Full Text] [Related]
52. Hermansky-Pudlak Syndrome: Identification of Boeckelmann D; Wolter M; Neubauer K; Sobotta F; Lenz A; Glonnegger H; Käsmann-Kellner B; Mann J; Ehl S; Zieger B Front Pharmacol; 2021; 12():786937. PubMed ID: 35126127 [TBL] [Abstract][Full Text] [Related]
53. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W J Invest Dermatol; 2013 Jul; 133(7):1834-40. PubMed ID: 23364476 [TBL] [Abstract][Full Text] [Related]
54. Hermansky-Pudlak Syndrome. De Jesus Rojas W; Young LR Semin Respir Crit Care Med; 2020 Apr; 41(2):238-246. PubMed ID: 32279294 [TBL] [Abstract][Full Text] [Related]
55. Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). Jardón J; Izquierdo NJ; Renta JY; García-Rodríguez O; Cadilla CL Ophthalmic Genet; 2016; 37(1):89-94. PubMed ID: 24766090 [TBL] [Abstract][Full Text] [Related]
56. Hermansky-Pudlak syndrome: health care throughout life. Seward SL; Gahl WA Pediatrics; 2013 Jul; 132(1):153-60. PubMed ID: 23753089 [TBL] [Abstract][Full Text] [Related]
57. New insights into the pathogenesis of Hermansky-Pudlak syndrome. Li W; Hao CJ; Hao ZH; Ma J; Wang QC; Yuan YF; Gong JJ; Chen YY; Yu JY; Wei AH Pigment Cell Melanoma Res; 2022 May; 35(3):290-302. PubMed ID: 35129281 [TBL] [Abstract][Full Text] [Related]
58. Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease. Alhozali H Cureus; 2023 Oct; 15(10):e47970. PubMed ID: 37908700 [TBL] [Abstract][Full Text] [Related]
59. 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]
60. 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] [Previous] [Next] [New Search]