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Journal Abstract Search

117 related items for PubMed ID: 9099845

  • 21.
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  • 23. 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 24; 330(8):529-34. PubMed ID: 8302318
    [Abstract] [Full Text] [Related]

  • 24. 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 Feb 24; 34(4):493-7. PubMed ID: 17620156
    [Abstract] [Full Text] [Related]

  • 25. Oculocutaneous albinism in sub-Saharan Africa: adverse sun-associated health effects and photoprotection.
    Wright CY, Norval M, Hertle RW.
    Photochem Photobiol; 2015 Feb 24; 91(1):27-32. PubMed ID: 25298350
    [Abstract] [Full Text] [Related]

  • 26. [Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].
    Zhou QJ, Gong P, Jiao XR, Yang ZX.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2023 Feb 18; 55(1):181-185. PubMed ID: 36718709
    [Abstract] [Full Text] [Related]

  • 27. Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa.
    Manga P, Kerr R, Ramsay M, Kromberg JG.
    S Afr Med J; 2013 Jul 29; 103(12 Suppl 1):984-8. PubMed ID: 24300644
    [Abstract] [Full Text] [Related]

  • 28. 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
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  • 29. 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 01; 126(1):85-90. PubMed ID: 16417222
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  • 30. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
    Morice-Picard F, Lasseaux E, Cailley D, Gros A, Toutain J, Plaisant C, Simon D, François S, Gilbert-Dussardier B, Kaplan J, Rooryck C, Lacombe D, Arveiler B.
    Pigment Cell Melanoma Res; 2014 Jan 01; 27(1):59-71. PubMed ID: 24118800
    [Abstract] [Full Text] [Related]

  • 31. 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 01; 120(5):781-3. PubMed ID: 12713581
    [Abstract] [Full Text] [Related]

  • 32. A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
    Kawai M, Suzuki T, Ito S, Inagaki K, Suzuki N, Tomita Y.
    Dermatology; 2005 May 01; 210(4):322-3. PubMed ID: 15942220
    [Abstract] [Full Text] [Related]

  • 33. Albinism in Africa as a public health issue.
    Hong ES, Zeeb H, Repacholi MH.
    BMC Public Health; 2006 Aug 17; 6():212. PubMed ID: 16916463
    [Abstract] [Full Text] [Related]

  • 34. Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
    Wei AH, Yang XM, Lian S, Li W.
    Chin Med J (Engl); 2013 Jan 17; 126(2):226-30. PubMed ID: 23324268
    [Abstract] [Full Text] [Related]

  • 35. High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.
    Rooryck C, Morice-Picard F, Lasseaux E, Cailley D, Dollfus H, Defoort-Dhellemme S, Duban-Bedu B, de Ravel TJ, Taieb A, Lacombe D, Arveiler B.
    Hum Genet; 2011 Feb 17; 129(2):199-208. PubMed ID: 21085994
    [Abstract] [Full Text] [Related]

  • 36. 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 17; 50(3):1058-64. PubMed ID: 19060277
    [Abstract] [Full Text] [Related]

  • 37. Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
    Gao J, D'Souza L, Wetherby K, Antolik C, Reeves M, Adams DR, Tumminia S, Wang X.
    Cell Biosci; 2017 Mar 17; 7():22. PubMed ID: 28451379
    [Abstract] [Full Text] [Related]

  • 38. Oculocutaneous albinism in southern Africa: population structure, health and genetic care.
    Lund PM.
    Ann Hum Biol; 2005 Mar 17; 32(2):168-73. PubMed ID: 16096213
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  • 39.
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  • 40. OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.
    Caduff M, Bauer A, Jagannathan V, Leeb T.
    PLoS One; 2017 Mar 17; 12(10):e0185944. PubMed ID: 28973042
    [Abstract] [Full Text] [Related]

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