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.
138 related articles for article (PubMed ID: 10768343)
1. Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Iwata F; Reed GF; Caruso RC; Kuehl EM; Gahl WA; Kaiser-Kupfer MI Ophthalmology; 2000 Apr; 107(4):783-9. PubMed ID: 10768343 [TBL] [Abstract][Full Text] [Related]
2. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Tsilou ET; Rubin BI; Reed GF; McCain L; Huizing M; White J; Kaiser-Kupfer MI; Gahl W Ophthalmology; 2004 Aug; 111(8):1599-603. PubMed ID: 15288994 [TBL] [Abstract][Full Text] [Related]
3. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Toro J; Turner M; Gahl WA Arch Dermatol; 1999 Jul; 135(7):774-80. PubMed ID: 10411151 [TBL] [Abstract][Full Text] [Related]
4. Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism. Seo JH; Yu YS; Kim JH; Choung HK; Heo JW; Kim SJ Ophthalmology; 2007 Aug; 114(8):1547-51. PubMed ID: 17337060 [TBL] [Abstract][Full Text] [Related]
5. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). Gahl WA; Brantly M; Kaiser-Kupfer MI; Iwata F; Hazelwood S; Shotelersuk V; Duffy LF; Kuehl EM; Troendle J; Bernardini I N Engl J Med; 1998 Apr; 338(18):1258-64. PubMed ID: 9562579 [TBL] [Abstract][Full Text] [Related]
6. Ophthalmic features of minimal pigment oculocutaneous albinism. Summers CG; King RA Ophthalmology; 1994 May; 101(5):906-14. PubMed ID: 8190479 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Vision in albinism. Summers CG Trans Am Ophthalmol Soc; 1996; 94():1095-155. PubMed ID: 8981720 [TBL] [Abstract][Full Text] [Related]
9. The Phenotypic Spectrum of Albinism. Kruijt CC; de Wit GC; Bergen AA; Florijn RJ; Schalij-Delfos NE; van Genderen MM Ophthalmology; 2018 Dec; 125(12):1953-1960. PubMed ID: 30098354 [TBL] [Abstract][Full Text] [Related]
10. Ocular findings in the Hermansky-Pudlak syndrome. Izquierdo NJ; Townsend W; Hussels IE Trans Am Ophthalmol Soc; 1995; 93():191-200; discussion 200-2. PubMed ID: 8719678 [TBL] [Abstract][Full Text] [Related]
11. A cross-sectional examination of visual acuity by specific type of albinism. Winsor CN; Holleschau AM; Connett JE; Summers CG J AAPOS; 2016 Oct; 20(5):419-424. PubMed ID: 27647118 [TBL] [Abstract][Full Text] [Related]
13. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Hazelwood S; Shotelersuk V; Wildenberg SC; Chen D; Iwata F; Kaiser-Kupfer MI; White JG; King RA; Gahl WA Am J Hum Genet; 1997 Nov; 61(5):1088-94. PubMed ID: 9345105 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Grating acuity in albinism in the first three years of life. Whang SJ; King RA; Summers CG J AAPOS; 2002 Dec; 6(6):393-6. PubMed ID: 12506283 [TBL] [Abstract][Full Text] [Related]
18. Eye movement abnormalities in hermansky-pudlak syndrome. Gradstein L; FitzGibbon EJ; Tsilou ET; Rubin BI; Huizing M; Gahl WA J AAPOS; 2005 Aug; 9(4):369-78. PubMed ID: 16102489 [TBL] [Abstract][Full Text] [Related]
19. Change in visual acuity in albinism in the early school years. Dijkstal JM; Cooley SS; Holleschau AM; King RA; Summers CG J Pediatr Ophthalmol Strabismus; 2012; 49(2):81-6; quiz 87. PubMed ID: 21732575 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]