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Journal Abstract Search

226 related items for PubMed ID: 9479530

  • 21. Eyes of a lower vertebrate are susceptible to the visual environment.
    Shen W, Sivak JG.
    Invest Ophthalmol Vis Sci; 2007 Oct; 48(10):4829-37. PubMed ID: 17898310
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  • 22. [Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families].
    Aquaron R, Berge-Lefranc JL, Badens C, Roche J, Fite A, Sainte-Marie D, Piquion N, Cartault F.
    Med Trop (Mars); 2005 Nov; 65(6):584-91. PubMed ID: 16555521
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  • 27. Tyrosinase gene mutations causing oculocutaneous albinisms.
    Tomita Y.
    J Invest Dermatol; 1993 Feb; 100(2 Suppl):186S-190S. PubMed ID: 8433007
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  • 29. [Oculocutaneous and ocular albinism].
    Kubasch AS, Meurer M.
    Hautarzt; 2017 Nov; 68(11):867-875. PubMed ID: 29018889
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  • 30. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.
    Oetting WS, Fryer JP, King RA.
    Hum Mutat; 1998 Nov; 12(6):433-4. PubMed ID: 10671066
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  • 31. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
    Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M, Jenkins T.
    Am J Hum Genet; 1992 Oct; 51(4):879-84. PubMed ID: 1415228
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  • 32. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
    Opitz S, Käsmann-Kellner B, Kaufmann M, Schwinger E, Zühlke C.
    Hum Mutat; 2004 Jun; 23(6):630-1. PubMed ID: 15146472
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  • 33. Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay.
    King RA, Witkop CJ.
    Am J Hum Genet; 1977 Mar; 29(2):164-8. PubMed ID: 15451
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  • 34. Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis.
    Tanita M, Matsunaga J, Miyamura Y, Dakeishi M, Nakamura E, Kono M, Shimizu H, Tagami H, Tomita Y.
    J Hum Genet; 2002 Mar; 47(1):1-6. PubMed ID: 11829136
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  • 35. Molecular genetics of oculocutaneous albinism.
    Spritz RA.
    Hum Mol Genet; 1994 Mar; 3 Spec No():1469-75. PubMed ID: 7849740
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  • 36. Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility.
    Witkop CJ, Niswander JD, Bergsma DR, Workman PL, White JG.
    Am J Phys Anthropol; 1972 May; 36(3):397-405. PubMed ID: 4624656
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  • 37. OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.
    Chaki M, Sengupta M, Mukhopadhyay A, Subba Rao I, Majumder PP, Das M, Samanta S, Ray K.
    Ann Hum Genet; 2006 Sep; 70(Pt 5):623-30. PubMed ID: 16907708
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  • 38. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
    Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA.
    Am J Hum Genet; 1994 Apr; 54(4):586-94. PubMed ID: 8128955
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  • 39. Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.
    Lee S, Schimmenti LA, King RA, Brilliant M, Anderson JL, Schoonveld C, Summers CG.
    J AAPOS; 2015 Dec; 19(6):562-4. PubMed ID: 26691042
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  • 40. 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 Dec; 105(2):62-4. PubMed ID: 23882993
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