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Journal Abstract Search

298 related items for PubMed ID: 8556816

  • 21.
    ; . PubMed ID:
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  • 22. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
    Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D.
    Hum Genet; 2002 Apr; 110(4):348-50. PubMed ID: 11941484
    [Abstract] [Full Text] [Related]

  • 23. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
    Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N.
    Invest Ophthalmol Vis Sci; 2014 Oct 16; 55(11):7369-75. PubMed ID: 25324289
    [Abstract] [Full Text] [Related]

  • 24.
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  • 25. Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.
    Humphries P, Farrar GJ, Kenna P, McWilliam P.
    Clin Genet; 1990 Jul 16; 38(1):1-13. PubMed ID: 2201466
    [Abstract] [Full Text] [Related]

  • 26. Gene mutations in retinitis pigmentosa and their clinical implications.
    Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP.
    Clin Chim Acta; 2005 Jan 16; 351(1-2):5-16. PubMed ID: 15563868
    [Abstract] [Full Text] [Related]

  • 27. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS.
    Curr Eye Res; 2005 Dec 16; 30(12):1081-7. PubMed ID: 16354621
    [Abstract] [Full Text] [Related]

  • 28. A genetic analysis of retinitis pigmentosa.
    Boughman JA, Fishman GA.
    Br J Ophthalmol; 1983 Jul 16; 67(7):449-54. PubMed ID: 6860611
    [Abstract] [Full Text] [Related]

  • 29. On the heredity of retinitis pigmentosa.
    Jay M.
    Br J Ophthalmol; 1982 Jul 16; 66(7):405-16. PubMed ID: 7093178
    [Abstract] [Full Text] [Related]

  • 30. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
    Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M.
    Mol Vis; 2005 Nov 02; 11():922-8. PubMed ID: 16280978
    [Abstract] [Full Text] [Related]

  • 31. An ophthalmic genetics clinic.
    Phillips CI, Stokoe NL, Hughes HE.
    Trans Ophthalmol Soc U K (1962); 1975 Nov 02; 95(4):472-6. PubMed ID: 1065140
    [Abstract] [Full Text] [Related]

  • 32.
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  • 33. Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
    Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS.
    Exp Eye Res; 2001 May 02; 72(5):503-9. PubMed ID: 11311042
    [Abstract] [Full Text] [Related]

  • 34. Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
    Barragán I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS, Antiñolo G.
    Ann Hum Genet; 2008 Jul 02; 72(Pt 4):454-62. PubMed ID: 18510647
    [Abstract] [Full Text] [Related]

  • 35. [Retinitis pigmentosa--more families are needed to localize the genes].
    Gyftodimou J, Anvret M, Goonewardena P, Pettersson U.
    Lakartidningen; 1986 Oct 01; 83(40):3323, 3326-7. PubMed ID: 3784705
    [No Abstract] [Full Text] [Related]

  • 36.
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  • 37. A retrospective study of registered retinitis pigmentosa patients in The Netherlands.
    van den Born LI, Bergen AA, Bleeker-Wagemakers EM.
    Ophthalmic Paediatr Genet; 1992 Dec 01; 13(4):227-36. PubMed ID: 1488223
    [Abstract] [Full Text] [Related]

  • 38. [Hereditary maculopathy in typical retinitis pigmentosa. Apropos of 40 cases].
    Chachia N, Romdane K, Zaghdane M, Hadj Hamida FB, Khayrallah M, Haddad M.
    Ophtalmologie; 1989 Dec 01; 3(1):67-8. PubMed ID: 2641075
    [Abstract] [Full Text] [Related]

  • 39. Plasma docosahexaenoic acid levels in various genetic forms of retinitis pigmentosa.
    Gong J, Rosner B, Rees DG, Berson EL, Weigel-DiFranco CA, Schaefer EJ.
    Invest Ophthalmol Vis Sci; 1992 Aug 01; 33(9):2596-602. PubMed ID: 1386350
    [Abstract] [Full Text] [Related]

  • 40. Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
    Gamundi MJ, Hernan I, Martínez-Gimeno M, Maseras M, García-Sandoval B, Ayuso C, Antiñolo G, Baiget M, Carballo M.
    BMC Med Genet; 2006 Apr 05; 7():35. PubMed ID: 16597330
    [Abstract] [Full Text] [Related]

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