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.
209 related articles for article (PubMed ID: 32687635)
41. 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]
42. 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]
43. After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. Serrano-González J; Montes-Rodríguez I; Renta JY; Rojas R; Cadilla CL Mol Genet Genomic Med; 2024 Jul; 12(7):e2493. PubMed ID: 38994739 [TBL] [Abstract][Full Text] [Related]
44. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Bachli EB; Brack T; Eppler E; Stallmach T; Trüeb RM; Huizing M; Gahl WA Am J Med Genet A; 2004 Jun; 127A(2):201-7. PubMed ID: 15108212 [TBL] [Abstract][Full Text] [Related]
45. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Anderson PD; Huizing M; Claassen DA; White J; Gahl WA Hum Genet; 2003 Jul; 113(1):10-7. PubMed ID: 12664304 [TBL] [Abstract][Full Text] [Related]
46. Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in Zaman Q; Sadeeda ; Anas M; Rehman G; Khan Q; Iftikhar A; Ahmad M; Owais M; Ahmad I; Muthaffar OY; Abdulkareem AA; Bibi F; Jelani M; Naseer MI Genes (Basel); 2023 Jan; 14(1):. PubMed ID: 36672886 [No Abstract] [Full Text] [Related]
47. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Huizing M; Parkes JM; Helip-Wooley A; White JG; Gahl WA Platelets; 2007 Mar; 18(2):150-7. PubMed ID: 17365864 [TBL] [Abstract][Full Text] [Related]
48. The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population. Liu T; Yuan Y; Bai D; Yao X; Zhang T; Huang Q; Qi Z; Yang L; Yang X; Li W; Wei A J Dermatol; 2021 May; 48(5):676-680. PubMed ID: 33543539 [TBL] [Abstract][Full Text] [Related]
49. 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]
50. Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome. Chen C; Wang R; Yuan Y; Li J; Yu X Genes (Basel); 2022 Jul; 13(7):. PubMed ID: 35886065 [TBL] [Abstract][Full Text] [Related]
51. 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]
52. Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. Meng R; Wu J; Harper DC; Wang Y; Kowalska MA; Abrams CS; Brass LF; Poncz M; Stalker TJ; Marks MS Blood; 2015 Mar; 125(10):1623-32. PubMed ID: 25477496 [TBL] [Abstract][Full Text] [Related]
53. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Cullinane AR; Curry JA; Carmona-Rivera C; Summers CG; Ciccone C; Cardillo ND; Dorward H; Hess RA; White JG; Adams D; Huizing M; Gahl WA Am J Hum Genet; 2011 Jun; 88(6):778-787. PubMed ID: 21665000 [TBL] [Abstract][Full Text] [Related]
54. 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]
56. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Huizing M; Boissy RE; Gahl WA Pigment Cell Res; 2002 Dec; 15(6):405-19. PubMed ID: 12453182 [TBL] [Abstract][Full Text] [Related]
57. 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]
58. Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. Stephen J; Yokoyama T; Tolman NJ; O'Brien KJ; Nicoli ER; Brooks BP; Huryn L; Titus SA; Adams DR; Chen D; Gahl WA; Gochuico BR; Malicdan MC PLoS One; 2017; 12(3):e0173682. PubMed ID: 28296950 [TBL] [Abstract][Full Text] [Related]
59. Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report. Girot P; Le Berre C; De Maissin A; Freyssinet M; Trang-Poisson C; Bourreille A World J Gastroenterol; 2019 Feb; 25(8):1031-1036. PubMed ID: 30833808 [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]