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Journal Abstract Search

154 related items for PubMed ID: 1409411

  • 1. The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism.
    Giebel LB, Spritz RA.
    Pigment Cell Res; 1992; Suppl 2():101-6. PubMed ID: 1409411
    [No Abstract] [Full Text] [Related]

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

  • 3. A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
    Oetting WS, Fryer JP, King RA.
    Hum Mol Genet; 1993 Jul; 2(7):1047-8. PubMed ID: 8364542
    [No Abstract] [Full Text] [Related]

  • 4. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
    Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi G.
    Mol Vis; 2015 Jul; 21():730-5. PubMed ID: 26167114
    [Abstract] [Full Text] [Related]

  • 5. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
    Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA.
    Am J Med Genet A; 2009 Mar; 149A(3):466-9. PubMed ID: 19208379
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  • 6. Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.
    Chaki M, Sengupta M, Mondal M, Bhattacharya A, Mallick S, Bhadra R, Indian Genome Variation Consortium, Ray K.
    J Invest Dermatol; 2011 Jan; 131(1):260-2. PubMed ID: 20861851
    [No Abstract] [Full Text] [Related]

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  • 8. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
    Oetting WS.
    Pigment Cell Res; 2000 Oct; 13(5):320-5. PubMed ID: 11041207
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  • 12. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
    Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV.
    Hum Mutat; 1997 Oct; 10(2):171-4. PubMed ID: 9259202
    [No Abstract] [Full Text] [Related]

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  • 14. Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism.
    Park KC, Kim KH, Lee YS, Kwon BS.
    J Inherit Metab Dis; 1994 Oct; 17(1):123-6. PubMed ID: 8051921
    [No Abstract] [Full Text] [Related]

  • 15. Molecular structure of the tyrosinase gene.
    Takeuchi T.
    Pigment Cell Res; 1992 Oct; Suppl 2():61-6. PubMed ID: 1409440
    [No Abstract] [Full Text] [Related]

  • 16. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
    Patrosso MC, Lando G, Penco S.
    Hum Genet; 2008 Oct; 124(3):294. PubMed ID: 18846608
    [No Abstract] [Full Text] [Related]

  • 17. Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism.
    King RA, Oetting WS.
    Pigment Cell Res; 1992 Oct; Suppl 2():249-53. PubMed ID: 1409426
    [Abstract] [Full Text] [Related]

  • 18. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
    Giebel LB, Tripathi RK, King RA, Spritz RA.
    J Clin Invest; 1991 Mar; 87(3):1119-22. PubMed ID: 1900309
    [Abstract] [Full Text] [Related]

  • 19. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.
    Park SK, Lee KH, Park KC, Lee JS, Spritz RA, Lee ST.
    Mol Cells; 1997 Apr 30; 7(2):187-91. PubMed ID: 9163730
    [Abstract] [Full Text] [Related]

  • 20. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.
    Schnur RE, Sellinger BT, Holmes SA, Wick PA, Tatsumura YO, Spritz RA.
    J Invest Dermatol; 1996 May 30; 106(5):1137-40. PubMed ID: 8618053
    [Abstract] [Full Text] [Related]

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