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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

454 related articles for article (PubMed ID: 16417222)

  • 1. 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]  

  • 2. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
    Huizing M; Anikster Y; Fitzpatrick DL; Jeong AB; D'Souza M; Rausche M; Toro JR; Kaiser-Kupfer MI; White JG; Gahl WA
    Am J Hum Genet; 2001 Nov; 69(5):1022-32. PubMed ID: 11590544
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
    Hermos CR; Huizing M; Kaiser-Kupfer MI; Gahl WA
    Hum Mutat; 2002 Dec; 20(6):482. PubMed ID: 12442288
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.
    Huizing M; Gahl WA
    Curr Mol Med; 2002 Aug; 2(5):451-67. PubMed ID: 12125811
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
    Ito S; Suzuki T; Inagaki K; Suzuki N; Takamori K; Yamada T; Nakazawa M; Hatano M; Takiwaki H; Kakuta Y; Spritz RA; Tomita Y
    J Invest Dermatol; 2005 Oct; 125(4):715-20. PubMed ID: 16185271
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Novel mutations in the HPS1 gene among Puerto Rican patients.
    Carmona-Rivera C; Hess RA; O'Brien K; Golas G; Tsilou E; White JG; Gahl WA; Huizing M
    Clin Genet; 2011 Jun; 79(6):561-7. PubMed ID: 20662851
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.
    Wei AH; Zang DJ; Zhang Z; Yang XM; Li W
    J Genet Genomics; 2015 Jun; 42(6):279-86. PubMed ID: 26165494
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.
    Rodríguez-Agramonte F; Izquierdo NJ; Cadilla C
    Bol Asoc Med P R; 2013; 105(2):62-4. PubMed ID: 23882993
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
    King RA; Pietsch J; Fryer JP; Savage S; Brott MJ; Russell-Eggitt I; Summers CG; Oetting WS
    Hum Genet; 2003 Nov; 113(6):502-13. PubMed ID: 13680365
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
    Yang Q; Yi S; Li M; Xie B; Luo J; Wang J; Rong X; Zhang Q; Qin Z; Hang L; Feng S; Fan X
    BMC Med Genet; 2019 Jun; 20(1):106. PubMed ID: 31196117
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.
    Khan J; Asif S; Ghani S; Khan H; Arshad MW; Khan SA; Lin S; Baple EL; Salter C; Crosby AH; Rawlins L; Shabbir MI
    BMC Ophthalmol; 2024 Aug; 24(1):345. PubMed ID: 39143519
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 23.