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262 related items for PubMed ID: 15249368

  • 1. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
    Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH.
    Arch Ophthalmol; 2004 Jul; 122(7):1029-37. PubMed ID: 15249368
    [Abstract] [Full Text] [Related]

  • 2. Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
    Galvin JA, Fishman GA, Stone EM, Koenekoop RK.
    Ophthalmology; 2005 Feb; 112(2):349-56. PubMed ID: 15691574
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
    Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.
    Invest Ophthalmol Vis Sci; 2011 Jan 05; 52(1):70-9. PubMed ID: 20702822
    [Abstract] [Full Text] [Related]

  • 5. Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
    Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP.
    Mol Genet Metab; 2000 Jun 05; 70(2):142-50. PubMed ID: 10873396
    [Abstract] [Full Text] [Related]

  • 6. Predominant rod photoreceptor degeneration in Leber congenital amaurosis.
    van der Spuy J, Munro PM, Luthert PJ, Preising MN, Bek T, Heegaard S, Cheetham ME.
    Mol Vis; 2005 Jul 22; 11():542-53. PubMed ID: 16052170
    [Abstract] [Full Text] [Related]

  • 7. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
    Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP.
    Invest Ophthalmol Vis Sci; 2006 Mar 22; 47(3):1167-76. PubMed ID: 16505055
    [Abstract] [Full Text] [Related]

  • 8. An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
    Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT.
    Invest Ophthalmol Vis Sci; 2007 Dec 22; 48(12):5684-9. PubMed ID: 18055820
    [Abstract] [Full Text] [Related]

  • 9. CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis.
    McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee RW, Malicki J.
    Invest Ophthalmol Vis Sci; 2009 Jul 22; 50(7):3185-7. PubMed ID: 19407021
    [Abstract] [Full Text] [Related]

  • 10. Mutational analysis and clinical correlation in Leber congenital amaurosis.
    Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH.
    Ophthalmic Genet; 2000 Sep 22; 21(3):135-50. PubMed ID: 11035546
    [Abstract] [Full Text] [Related]

  • 11. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
    Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Dec 22; 41(13):4293-9. PubMed ID: 11095629
    [Abstract] [Full Text] [Related]

  • 12. Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
    Yücel-Yılmaz D, Tarlan B, Kıratlı H, Ozgül RK.
    DNA Cell Biol; 2014 Dec 22; 33(12):876-83. PubMed ID: 25148430
    [Abstract] [Full Text] [Related]

  • 13. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
    Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Aug 22; 41(9):2735-42. PubMed ID: 10937591
    [Abstract] [Full Text] [Related]

  • 14. 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 22; 23(4):306-17. PubMed ID: 15024725
    [Abstract] [Full Text] [Related]

  • 15. 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 22; 46(9):3052-9. PubMed ID: 16123401
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 28; 48(11):5160-7. PubMed ID: 17962469
    [Abstract] [Full Text] [Related]

  • 18. Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
    Pennesi ME, Stover NB, Stone EM, Chiang PW, Weleber RG.
    Invest Ophthalmol Vis Sci; 2011 Oct 17; 52(11):8166-73. PubMed ID: 21900377
    [Abstract] [Full Text] [Related]

  • 19. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.
    Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M, Hussein N, Karim N, Ladak SS, Jamal A, Bulman D, Koenekoop RK.
    Can J Ophthalmol; 2001 Aug 17; 36(5):252-9. PubMed ID: 11548141
    [Abstract] [Full Text] [Related]

  • 20. Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
    Vámos R, Külm M, Szabó V, Ahman A, Lesch B, Schneider M, Varsányi B, Nagy ZZ, Németh J, Farkas Á.
    Eur J Ophthalmol; 2016 Aug 17; 26(1):78-84. PubMed ID: 26165328
    [Abstract] [Full Text] [Related]

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