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374 related items for PubMed ID: 24144451

  • 1. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
    Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FPM, Carracedo A, Ayuso C.
    Ophthalmology; 2014 Jan; 121(1):399-407. PubMed ID: 24144451
    [Abstract] [Full Text] [Related]

  • 2. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK, [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N.
    PLoS One; 2015 Jun; 10(7):e0131679. PubMed ID: 26147992
    [Abstract] [Full Text] [Related]

  • 5. Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.
    Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS.
    Invest Ophthalmol Vis Sci; 2020 May 11; 61(5):30. PubMed ID: 32428231
    [Abstract] [Full Text] [Related]

  • 6. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
    Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C.
    Ophthalmology; 2012 Dec 11; 119(12):2616-21. PubMed ID: 22917891
    [Abstract] [Full Text] [Related]

  • 7. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
    Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM.
    Ophthalmology; 2010 Jun 11; 117(6):1190-8. PubMed ID: 20079931
    [Abstract] [Full Text] [Related]

  • 8. Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.
    Ramprasad VL, Soumittra N, Nancarrow D, Sen P, McKibbin M, Williams GA, Arokiasamy T, Lakshmipathy P, Inglehearn CF, Kumaramanickavel G.
    Mol Vis; 2008 Mar 10; 14():481-6. PubMed ID: 18334959
    [Abstract] [Full Text] [Related]

  • 9. Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
    Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ.
    Mol Vis; 2011 Mar 10; 17():1940-5. PubMed ID: 21850168
    [Abstract] [Full Text] [Related]

  • 10. Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
    Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B.
    Invest Ophthalmol Vis Sci; 2012 Jun 08; 53(7):3463-72. PubMed ID: 22531706
    [Abstract] [Full Text] [Related]

  • 11. Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
    Wang S, Zhang Q, Zhang X, Wang Z, Zhao P.
    Graefes Arch Clin Exp Ophthalmol; 2016 Nov 08; 254(11):2227-2238. PubMed ID: 27422788
    [Abstract] [Full Text] [Related]

  • 12. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
    Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM.
    Ophthalmology; 2017 Jul 08; 124(7):992-1003. PubMed ID: 28412069
    [Abstract] [Full Text] [Related]

  • 13. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
    Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF.
    Ophthalmology; 2017 Jun 08; 124(6):884-895. PubMed ID: 28341475
    [Abstract] [Full Text] [Related]

  • 14. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
    Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y.
    Br J Ophthalmol; 2020 Jul 08; 104(7):932-937. PubMed ID: 31630094
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
    Corton M, Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C.
    Orphanet J Rare Dis; 2013 Feb 05; 8():20. PubMed ID: 23379534
    [Abstract] [Full Text] [Related]

  • 17. Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.
    Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G, Gonzàlez-Duarte R.
    Eur J Hum Genet; 2010 Jan 05; 18(1):118-24. PubMed ID: 19584904
    [Abstract] [Full Text] [Related]

  • 18. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
    Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2007 Dec 05; 48(12):5653-61. PubMed ID: 18055816
    [Abstract] [Full Text] [Related]

  • 19. Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.
    Riera M, Abad-Morales V, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcostegui B, Pomares E.
    Br J Ophthalmol; 2020 Feb 05; 104(2):173-181. PubMed ID: 31079053
    [Abstract] [Full Text] [Related]

  • 20. RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
    Parameswarappa DC, Bagga DK, Upadhyaya A, Balasubramanian J, Pochaboina V, Muthineni V, Jalali S, Kannabiran C.
    Ophthalmic Genet; 2024 Jun 05; 45(3):303-312. PubMed ID: 38323530
    [Abstract] [Full Text] [Related]

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