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Journal Abstract Search

281 related items for PubMed ID: 2012147

  • 21. Preserved para-arteriolar retinal pigment epithelium retinitis pigmentosa.
    Porta A, Pierrottet C, Aschero M, Orzalesi N.
    Am J Ophthalmol; 1992 Feb 15; 113(2):161-4. PubMed ID: 1550183
    [Abstract] [Full Text] [Related]

  • 22. Leber's congenital amaurosis associated with high hyperopia in four sisters.
    Babel J, Klein D, Roth A.
    Ophthalmic Paediatr Genet; 1989 Mar 15; 10(1):55-61. PubMed ID: 2662098
    [Abstract] [Full Text] [Related]

  • 23. Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.
    Tsui I, Chou CL, Palmer N, Lin CS, Tsang SH.
    Curr Eye Res; 2008 Nov 15; 33(11):1014-22. PubMed ID: 19085385
    [Abstract] [Full Text] [Related]

  • 24. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
    den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB.
    Arch Ophthalmol; 2007 Jul 15; 125(7):932-5. PubMed ID: 17620573
    [Abstract] [Full Text] [Related]

  • 25. A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa.
    Lyness AL, Ernst W, Quinlan MP, Clover GM, Arden GB, Carter RM, Bird AC, Parker JA.
    Br J Ophthalmol; 1985 May 15; 69(5):326-39. PubMed ID: 3873253
    [Abstract] [Full Text] [Related]

  • 26. Associated retinitis pigmentosa and fundus flavimaculatus.
    Fiore C, Santoni G, Lupidi G, Ricci AL.
    Ophthalmologica; 1987 May 15; 194(2-3):111-8. PubMed ID: 3614843
    [Abstract] [Full Text] [Related]

  • 27. Autosomal dominantly inherited retinitis pigmentosa with a severe clinical course.
    Satheesh P, Chacko A, Rajan GV.
    J Assoc Physicians India; 1993 Nov 15; 41(11):756. PubMed ID: 8005942
    [No Abstract] [Full Text] [Related]

  • 28. Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
    Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC.
    Arch Ophthalmol; 2003 Jun 15; 121(6):793-802. PubMed ID: 12796249
    [Abstract] [Full Text] [Related]

  • 29. A survey of hereditary aspects of pigmentary retinal dystrophies.
    Dickinson P, Mulhall L.
    Aust N Z J Ophthalmol; 1989 Aug 15; 17(3):247-56. PubMed ID: 2803770
    [Abstract] [Full Text] [Related]

  • 30. Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
    Kozma P, Hughbanks-Wheaton DK, Locke KG, Fish GE, Gire AI, Spellicy CJ, Sullivan LS, Bowne SJ, Daiger SP, Birch DG.
    Am J Ophthalmol; 2005 Nov 15; 140(5):858-867. PubMed ID: 16214101
    [Abstract] [Full Text] [Related]

  • 31.
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  • 32. Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3.
    Olsson JE, Samanns C, Jimenez J, Pongratz J, Chand A, Watty A, Seuchter SA, Denton M, Gal A.
    Am J Med Genet; 1990 Apr 15; 35(4):595-9. PubMed ID: 2333895
    [Abstract] [Full Text] [Related]

  • 33. Low-frequency damped electroretinographic wavelets in young asymptomatic patients with dominant retinitis pigmentosa: a new electroretinographic finding.
    Lam BL, Liu M, Hamasaki DI.
    Ophthalmology; 1999 Jun 15; 106(6):1109-13. PubMed ID: 10366078
    [Abstract] [Full Text] [Related]

  • 34. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR.
    Invest Ophthalmol Vis Sci; 2011 Dec 02; 52(13):9304-9. PubMed ID: 22039234
    [Abstract] [Full Text] [Related]

  • 35. [Choroideremia (progressive chorio-retinal degeneration)].
    François J, de Brabandere J, Stockmans L.
    Bull Soc Belge Ophtalmol; 1967 Dec 02; 146():384-400. PubMed ID: 5311122
    [No Abstract] [Full Text] [Related]

  • 36. Autosomal inheritance of "senile" retinitis pigmentosa. A report of a family with consanguinity.
    Bonneau D, Kaplan J, Girard G, Dufier JL.
    Clin Genet; 1992 Oct 02; 42(4):199-200. PubMed ID: 1424244
    [Abstract] [Full Text] [Related]

  • 37. The clinical significance of retinitis pigmentosa without pigment: a computer assisted analysis.
    Pearlman JT, Saxton J, Flood TP, Seiff SR.
    Adv Exp Med Biol; 1977 Oct 02; 77():31-5. PubMed ID: 322461
    [Abstract] [Full Text] [Related]

  • 38. Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.
    Kim RY, al-Maghtheh M, Fitzke FW, Arden GB, Jay M, Bhattacharya SS, Bird AC.
    Arch Ophthalmol; 1993 Nov 02; 111(11):1518-24. PubMed ID: 8240108
    [Abstract] [Full Text] [Related]

  • 39. Retinitis pigmentosa and allied diseases: applications of electroretinographic testing.
    Berson EL.
    Int Ophthalmol; 1981 Aug 02; 4(1-2):7-22. PubMed ID: 7028651
    [Abstract] [Full Text] [Related]

  • 40. Retinitis pigmentosa. Visual loss.
    Fishman GA.
    Arch Ophthalmol; 1978 Jul 02; 96(7):1185-8. PubMed ID: 307377
    [Abstract] [Full Text] [Related]

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