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Journal Abstract Search

120 related items for PubMed ID: 9321758

  • 1. Oculocutaneous albinism in an isolated Tonga community in Zimbabwe.
    Lund PM, Puri N, Durham-Pierre D, King RA, Brilliant MH.
    J Med Genet; 1997 Sep; 34(9):733-5. PubMed ID: 9321758
    [Abstract] [Full Text] [Related]

  • 2. Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene.
    Puri N, Durbam-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH.
    Hum Genet; 1997 Oct; 100(5-6):651-6. PubMed ID: 9341887
    [Abstract] [Full Text] [Related]

  • 3. Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.
    Kagore F, Lund PM.
    J Med Genet; 1995 Nov; 32(11):859-61. PubMed ID: 8592327
    [Abstract] [Full Text] [Related]

  • 4. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
    Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M.
    Hum Mutat; 2000 Nov; 15(2):166-72. PubMed ID: 10649493
    [Abstract] [Full Text] [Related]

  • 5. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.
    Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH.
    Am J Hum Genet; 2003 Jan; 72(1):62-72. PubMed ID: 12469324
    [Abstract] [Full Text] [Related]

  • 6. Oculocutaneous albinism in a rural community of South Africa: a population genetic study.
    Lund PM, Maluleke TG, Gaigher I, Gaigher MJ.
    Ann Hum Biol; 2007 Jan; 34(4):493-7. PubMed ID: 17620156
    [Abstract] [Full Text] [Related]

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    [No Abstract] [Full Text] [Related]

  • 8. Molecular genetic characterization of Congolese patients with oculocutaneous albinism.
    Laetitia MM, Veronique K, Mamy NZ, Cathy SM, Aimé L, Race V, Prosper LT, Devriendt K.
    Eur J Med Genet; 2022 Nov; 65(11):104611. PubMed ID: 36116698
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.
    Wang H, Wan Y, Yang Y, Li H, Mao L, Gao S, Xu J, Wang J.
    BMC Med Genet; 2019 Jul 25; 20(1):130. PubMed ID: 31345173
    [Abstract] [Full Text] [Related]

  • 11. Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.
    Durham-Pierre D, King RA, Naber JM, Laken S, Brilliant MH.
    Hum Mutat; 1996 Jul 25; 7(4):370-3. PubMed ID: 8723691
    [No Abstract] [Full Text] [Related]

  • 12. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
    Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG.
    Hum Mutat; 1997 Jul 25; 10(2):175-7. PubMed ID: 9259203
    [No Abstract] [Full Text] [Related]

  • 13. A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).
    Kato A, Fukai K, Oiso N, Hosomi N, Saitoh S, Wada T, Shimizu H, Ishii M.
    J Dermatol Sci; 2003 May 25; 31(3):189-92. PubMed ID: 12727022
    [Abstract] [Full Text] [Related]

  • 14. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
    Suzuki T, Miyamura Y, Matsunaga J, Shimizu H, Kawachi Y, Ohyama N, Ishikawa O, Ishikawa T, Terao H, Tomita Y.
    J Invest Dermatol; 2003 May 25; 120(5):781-3. PubMed ID: 12713581
    [Abstract] [Full Text] [Related]

  • 15. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
    Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.
    Gene; 2014 Jan 01; 533(1):398-402. PubMed ID: 24096233
    [Abstract] [Full Text] [Related]

  • 16. Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.
    Stevens G, Ramsay M, Jenkins T.
    Hum Genet; 1997 Apr 01; 99(4):523-7. PubMed ID: 9099845
    [Abstract] [Full Text] [Related]

  • 17. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
    Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2009 Mar 01; 50(3):1058-64. PubMed ID: 19060277
    [Abstract] [Full Text] [Related]

  • 18. Oculocutaneous albinism in southern Africa: population structure, health and genetic care.
    Lund PM.
    Ann Hum Biol; 2005 Mar 01; 32(2):168-73. PubMed ID: 16096213
    [Abstract] [Full Text] [Related]

  • 19. Distribution of oculocutaneous albinism in Zimbabwe.
    Lund PM.
    J Med Genet; 1996 Aug 01; 33(8):641-4. PubMed ID: 8863154
    [Abstract] [Full Text] [Related]

  • 20. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
    Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y.
    Am J Hum Genet; 2004 Mar 01; 74(3):466-71. PubMed ID: 14961451
    [Abstract] [Full Text] [Related]

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