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723 related items for PubMed ID: 17962469

  • 1. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.
    Invest Ophthalmol Vis Sci; 2007 Nov; 48(11):5160-7. PubMed ID: 17962469
    [Abstract] [Full Text] [Related]

  • 2. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 3. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1999 Aug; 40(9):2106-14. PubMed ID: 10440267
    [Abstract] [Full Text] [Related]

  • 4. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
    den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5690-8. PubMed ID: 18055821
    [Abstract] [Full Text] [Related]

  • 5. CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
    Yzer S, Fishman GA, Racine J, Al-Zuhaibi S, Chakor H, Dorfman A, Szlyk J, Lachapelle P, van den Born LI, Allikmets R, Lopez I, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):3736-44. PubMed ID: 16936081
    [Abstract] [Full Text] [Related]

  • 6. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
    Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI.
    Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3646-52. PubMed ID: 20130272
    [Abstract] [Full Text] [Related]

  • 7. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
    Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.
    Invest Ophthalmol Vis Sci; 2011 May 09; 52(6):3032-8. PubMed ID: 21310915
    [Abstract] [Full Text] [Related]

  • 8. Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.
    Ozgül RK, Bozkurt B, Kiratli H, Oğüş A.
    Eye (Lond); 2006 Jul 09; 20(7):817-9. PubMed ID: 16082399
    [Abstract] [Full Text] [Related]

  • 9. Leber congenital amaurosis: genes, proteins and disease mechanisms.
    den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.
    Prog Retin Eye Res; 2008 Jul 09; 27(4):391-419. PubMed ID: 18632300
    [Abstract] [Full Text] [Related]

  • 10. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
    Hameed A, Khaliq S, Ismail M, Anwar K, Ebenezer ND, Jordan T, Mehdi SQ, Payne AM, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Mar 09; 41(3):629-33. PubMed ID: 10711674
    [Abstract] [Full Text] [Related]

  • 11. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
    Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR.
    Mol Vis; 2005 Feb 28; 11():152-62. PubMed ID: 15765048
    [Abstract] [Full Text] [Related]

  • 12. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
    Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.
    Invest Ophthalmol Vis Sci; 2005 Sep 28; 46(9):3052-9. PubMed ID: 16123401
    [Abstract] [Full Text] [Related]

  • 13. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
    Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O.
    Ophthalmic Genet; 2006 Mar 28; 27(1):15-20. PubMed ID: 16543197
    [Abstract] [Full Text] [Related]

  • 14. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
    Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG.
    Ophthalmology; 2003 Mar 28; 110(3):549-58. PubMed ID: 12623820
    [Abstract] [Full Text] [Related]

  • 15. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
    Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A.
    Invest Ophthalmol Vis Sci; 2007 Apr 28; 48(4):1824-31. PubMed ID: 17389517
    [Abstract] [Full Text] [Related]

  • 16. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
    Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J.
    Hum Mutat; 2004 Apr 28; 23(4):306-17. PubMed ID: 15024725
    [Abstract] [Full Text] [Related]

  • 17. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
    Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2014 Feb 24; 55(2):1149-60. PubMed ID: 24474277
    [Abstract] [Full Text] [Related]

  • 18. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
    Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A.
    Mol Vis; 2003 Jan 24; 9():14-7. PubMed ID: 12552256
    [Abstract] [Full Text] [Related]

  • 19. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May 24; 118(5):888-94. PubMed ID: 21211845
    [Abstract] [Full Text] [Related]

  • 20. Fundus autofluorescence in patients with leber congenital amaurosis.
    Scholl HP, Chong NH, Robson AG, Holder GE, Moore AT, Bird AC.
    Invest Ophthalmol Vis Sci; 2004 Aug 24; 45(8):2747-52. PubMed ID: 15277500
    [Abstract] [Full Text] [Related]

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