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289 related items for PubMed ID: 16907708

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
    Chaki M, Mukhopadhyay A, Chatterjee S, Das M, Samanta S, Ray K.
    Mol Vis; 2005 Jul 19; 11():531-4. PubMed ID: 16056219
    [Abstract] [Full Text] [Related]

  • 3. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
    Sundaresan P, Sil AK, Philp AR, Randolph MA, Natchiar G, Namperumalsamy P.
    Mol Vis; 2004 Dec 27; 10():1005-10. PubMed ID: 15635296
    [Abstract] [Full Text] [Related]

  • 4. Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.
    Tsai CH, Tsai FJ, Wu JY, Lin SP, Chang JG, Yang CF, Lee CC.
    Hum Mutat; 1999 Dec 27; 14(6):542. PubMed ID: 10571953
    [Abstract] [Full Text] [Related]

  • 5. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
    Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA.
    Am J Med Genet; 1992 Jul 15; 43(5):865-71. PubMed ID: 1642278
    [Abstract] [Full Text] [Related]

  • 6. Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
    Goto M, Sato-Matsumura KC, Sawamura D, Yokota K, Nakamura H, Shimizu H.
    J Dermatol Sci; 2004 Sep 15; 35(3):215-20. PubMed ID: 15381243
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 23(6):630-1. PubMed ID: 15146472
    [Abstract] [Full Text] [Related]

  • 8. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
    Oetting WS, King RA.
    Hum Mutat; 1993 Jun 15; 2(1):1-6. PubMed ID: 8477259
    [Abstract] [Full Text] [Related]

  • 9. 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 Jun 15; 12(6):433-4. PubMed ID: 10671066
    [Abstract] [Full Text] [Related]

  • 10. Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities.
    Ganguly K, Dutta T, Saha A, Sarkar D, Sil A, Ray K, Sengupta M.
    Ann Hum Genet; 2020 May 15; 84(3):303-312. PubMed ID: 32115698
    [Abstract] [Full Text] [Related]

  • 11. Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism.
    Park KC, Park SK, Lee YS, Youn SW, Park BS, Kim KH, Lee ST.
    Jpn J Hum Genet; 1996 Sep 15; 41(3):299-305. PubMed ID: 8996965
    [Abstract] [Full Text] [Related]

  • 12. [Human oculocutaneous albinism. From clinical observation to molecular biology].
    Aquaron R.
    Bull Soc Pathol Exot; 1993 Sep 15; 86(5):313-26. PubMed ID: 8124097
    [Abstract] [Full Text] [Related]

  • 13. Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
    Sengupta M, Mondal M, Jaiswal P, Sinha S, Chaki M, Samanta S, Ray K.
    Br J Dermatol; 2010 Sep 15; 163(3):487-94. PubMed ID: 20426782
    [Abstract] [Full Text] [Related]

  • 14. Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
    Camand O, Marchant D, Boutboul S, Péquignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier JL, Heon E, Abitbol M.
    Hum Mutat; 2001 Apr 15; 17(4):352. PubMed ID: 11295837
    [Abstract] [Full Text] [Related]

  • 15. Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.
    Ray K, Chaki M, Sengupta M.
    Prog Retin Eye Res; 2007 Jul 15; 26(4):323-58. PubMed ID: 17355913
    [Abstract] [Full Text] [Related]

  • 16. Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.
    Lin SY, Chien SC, Su YN, Lee CN, Chen CP.
    Prenat Diagn; 2006 May 15; 26(5):466-70. PubMed ID: 16570240
    [Abstract] [Full Text] [Related]

  • 17. Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
    Dutta T, Ganguly K, Saha A, Sil A, Ray K, Sengupta M.
    Mol Biol Rep; 2024 Jul 16; 51(1):818. PubMed ID: 39014059
    [Abstract] [Full Text] [Related]

  • 18. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
    King RA, Mentink MM, Oetting WS.
    Mol Biol Med; 1991 Feb 16; 8(1):19-29. PubMed ID: 1943686
    [Abstract] [Full Text] [Related]

  • 19. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
    Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA.
    Am J Hum Genet; 1993 Dec 16; 53(6):1173-9. PubMed ID: 7902671
    [Abstract] [Full Text] [Related]

  • 20. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
    Shah SA, Raheem N, Daud S, Mubeen J, Shaikh AA, Baloch AH, Nadeem A, Tayyab M, Babar ME, Ahmad J.
    Clin Exp Dermatol; 2015 Oct 16; 40(7):774-80. PubMed ID: 25703744
    [Abstract] [Full Text] [Related]

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