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Journal Abstract Search

86 related items for PubMed ID: 23063908

  • 1. Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?
    Tuli AM, Valenzuela RK, Kamugisha E, Brilliant MH.
    Med Hypotheses; 2012 Dec; 79(6):875-8. PubMed ID: 23063908
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  • 2. 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; 99(4):523-7. PubMed ID: 9099845
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  • 3. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
    Johanson HC, Chen W, Wicking C, Sturm RA.
    J Hum Genet; 2010 Feb; 55(2):103-11. PubMed ID: 20019752
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  • 4. 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
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  • 5. 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
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  • 6. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
    Spritz RA, Fukai K, Holmes SA, Luande J.
    Am J Hum Genet; 1995 Jun; 56(6):1320-3. PubMed ID: 7762554
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  • 10. CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus.
    Klaassen H, Wang Y, Adamski K, Rohner N, Kowalko JE.
    Dev Biol; 2018 Sep 15; 441(2):313-318. PubMed ID: 29555241
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  • 12. 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 15; 34(9):733-5. PubMed ID: 9321758
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  • 13. A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.
    Shoji H, Kiniwa Y, Okuyama R, Yang M, Higuchi K, Mori M.
    Exp Anim; 2015 Sep 15; 64(2):171-9. PubMed ID: 25736709
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  • 14. Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
    Rayner JE, Duffy DL, Smit DJ, Jagirdar K, Lee KJ, De'Ambrosis B, Smithers BM, McMeniman EK, McInerney-Leo AM, Schaider H, Stark MS, Soyer HP, Sturm RA.
    PLoS One; 2020 Sep 15; 15(9):e0238529. PubMed ID: 32966289
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  • 15. Albinism (OCA2) in Amerindians.
    Woolf CM.
    Am J Phys Anthropol; 2005 Sep 15; Suppl 41():118-40. PubMed ID: 16369963
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  • 17. A global view of the OCA2-HERC2 region and pigmentation.
    Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK.
    Hum Genet; 2012 May 15; 131(5):683-96. PubMed ID: 22065085
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  • 18. OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
    Yuasa I, Umetsu K, Harihara S, Miyoshi A, Saitou N, Park KS, Dashnyam B, Jin F, Lucotte G, Chattopadhyay PK, Henke L, Henke J.
    J Hum Genet; 2007 May 15; 52(8):690-693. PubMed ID: 17568986
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  • 20. 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 15; 210(4):322-3. PubMed ID: 15942220
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