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.
98 related articles for article (PubMed ID: 9851892)
1. Three new mutations in a gene causing Hermansky-Pudlak syndrome. Spritz RA; Oh J Mol Genet Metab; 1998 Nov; 65(3):254. PubMed ID: 9851892 [No Abstract] [Full Text] [Related]
2. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome) [correction of (Hennansky-Pudlak)]. Fulton AB Arch Ophthalmol; 1999 Feb; 117(2):251-2. PubMed ID: 10037574 [No Abstract] [Full Text] [Related]
3. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. O'Brien KJ; Lozier J; Cullinane AR; Osorio B; Nghiem K; Speransky V; Zein WM; Mullikin JC; Neff AT; Simon KL; Malicdan MC; Gahl WA; Young LR; Gochuico BR Mol Genet Metab; 2016 Nov; 119(3):284-287. PubMed ID: 27641950 [TBL] [Abstract][Full Text] [Related]
4. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Shotelersuk V; Dell'Angelica EC; Hartnell L; Bonifacino JS; Gahl WA Am J Med; 2000 Apr; 108(5):423-7. PubMed ID: 10759101 [No Abstract] [Full Text] [Related]
5. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. Santiago Borrero PJ; Rodríguez-Pérez Y; Renta JY; Izquierdo NJ; Del Fierro L; Muñoz D; Molina NL; Ramírez S; Pagán-Mercado G; Ortíz I; Rivera-Caragol E; Spritz RA; Cadilla CL J Invest Dermatol; 2006 Jan; 126(1):85-90. PubMed ID: 16417222 [TBL] [Abstract][Full Text] [Related]
6. P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. Garrison NA; Yi Z; Cohen-Barak O; Huizing M; Hartnell LM; Gahl WA; Brilliant MH J Med Genet; 2004 Jun; 41(6):e86. PubMed ID: 15173252 [No Abstract] [Full Text] [Related]
7. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Shotelersuk V; Hazelwood S; Larson D; Iwata F; Kaiser-Kupfer MI; Kuehl E; Bernardini I; Gahl WA Mol Genet Metab; 1998 Jun; 64(2):99-107. PubMed ID: 9705234 [TBL] [Abstract][Full Text] [Related]
9. Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. Ishaq M; Niazi MK; Khan MS; Nadeem Y J Coll Physicians Surg Pak; 2015 Apr; 25 Suppl 1():S43-4. PubMed ID: 25933462 [TBL] [Abstract][Full Text] [Related]
10. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. Power B; Ferreira CR; Chen D; Zein WM; O'Brien KJ; Introne WJ; Stephen J; Gahl WA; Huizing M; Malicdan MCV; Adams DR; Gochuico BR Orphanet J Rare Dis; 2019 Feb; 14(1):52. PubMed ID: 30791930 [TBL] [Abstract][Full Text] [Related]
11. Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. Arcot Sadagopan K; Kathirvel R; Keep RB; Sundaresan P; Huang H; Rolfs A; Parthiban K; Vijayalakshmi P Ophthalmic Genet; 2017; 38(2):194-196. PubMed ID: 27176668 [No Abstract] [Full Text] [Related]
12. Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. Horikawa T; Araki K; Fukai K; Ueda M; Ueda T; Ito S; Ichihashi M Br J Dermatol; 2000 Sep; 143(3):635-40. PubMed ID: 10971344 [TBL] [Abstract][Full Text] [Related]
13. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Oh J; Bailin T; Fukai K; Feng GH; Ho L; Mao JI; Frenk E; Tamura N; Spritz RA Nat Genet; 1996 Nov; 14(3):300-6. PubMed ID: 8896559 [TBL] [Abstract][Full Text] [Related]
14. Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection. Huizing M; Anikster Y; Gahl WA Hum Genet; 2000 Mar; 106(3):370-3. PubMed ID: 10798370 [TBL] [Abstract][Full Text] [Related]
15. Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome. Ellis JP; Gray A; Richards F J R Soc Med; 1995 May; 88(5):293P-294P. PubMed ID: 7636828 [TBL] [Abstract][Full Text] [Related]
16. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. Lee ST; Nicholls RD; Bundey S; Laxova R; Musarella M; Spritz RA N Engl J Med; 1994 Feb; 330(8):529-34. PubMed ID: 8302318 [TBL] [Abstract][Full Text] [Related]
17. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Brantly M; Avila NA; Shotelersuk V; Lucero C; Huizing M; Gahl WA Chest; 2000 Jan; 117(1):129-36. PubMed ID: 10631210 [TBL] [Abstract][Full Text] [Related]
18. Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report. Ishihara J; Mizuochi T; Uchida T; Takaki Y; Konishi KI; Joo M; Takahashi Y; Yoshioka S; Kusano H; Sasahara Y; Yamashita Y BMC Gastroenterol; 2019 Jan; 19(1):9. PubMed ID: 30634918 [TBL] [Abstract][Full Text] [Related]
19. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Feng GH; Bailin T; Oh J; Spritz RA Hum Mol Genet; 1997 May; 6(5):793-7. PubMed ID: 9158155 [TBL] [Abstract][Full Text] [Related]
20. Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. Tomita Y; Miyamura Y; Kono M; Nakamura R; Matsunaga J Pigment Cell Res; 2000; 13 Suppl 8():130-4. PubMed ID: 11041370 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]