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Journal Abstract Search


358 related items for PubMed ID: 24771178

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  • 3. 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
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  • 5. 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; 41(9):2735-42. PubMed ID: 10937591
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  • 7. A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.
    Abouzeid H, Othman IS, Schorderet DF.
    Klin Monbl Augenheilkd; 2016 Apr; 233(4):456-9. PubMed ID: 27116508
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  • 8. RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
    Katagiri S, Hayashi T, Kondo M, Tsukitome H, Yoshitake K, Akahori M, Ikeo K, Tsuneoka H, Iwata T.
    Ophthalmic Genet; 2016 Jun; 37(2):161-9. PubMed ID: 25495949
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  • 9. Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.
    Xu F, Dong Q, Liu L, Li H, Liang X, Jiang R, Sui R, Dong F.
    Mol Vis; 2012 Jun; 18():744-50. PubMed ID: 22509104
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  • 10. Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
    Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ.
    Br J Ophthalmol; 2014 Dec; 98(12):1724-8. PubMed ID: 24997176
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  • 11. 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 Dec; 10(7):e0131679. PubMed ID: 26147992
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  • 12. A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
    Mo G, Ding Q, Chen Z, Li Y, Yan M, Bu L, Song Y, Yin G.
    PLoS One; 2014 Dec; 9(11):e112400. PubMed ID: 25383945
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  • 13. 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
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  • 14. A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
    Glen WB, Peterseim MMW, Badilla R, Znoyko I, Bourg A, Wilson R, Hardiman G, Wolff D, Martinez J.
    Ophthalmic Genet; 2019 Apr 09; 40(2):110-117. PubMed ID: 30870047
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  • 15. Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
    Hedergott A, Volk AE, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A.
    Graefes Arch Clin Exp Ophthalmol; 2015 Dec 09; 253(12):2239-46. PubMed ID: 26464178
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  • 16. 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 09; 48(12):5690-8. PubMed ID: 18055821
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  • 17. Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial.
    Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA.
    Lancet; 2014 Oct 25; 384(9953):1513-20. PubMed ID: 25030840
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  • 18. RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
    Li S, Xiao X, Yi Z, Sun W, Wang P, Zhang Q.
    Acta Ophthalmol; 2020 Mar 25; 98(2):e181-e190. PubMed ID: 31273949
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  • 19. Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.
    Roman AJ, Cideciyan AV, Schwartz SB, Olivares MB, Heon E, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2013 Feb 15; 54(2):1378-83. PubMed ID: 23341016
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  • 20. A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis.
    Liu J, Bu J.
    Chin Med J (Engl); 2017 Nov 20; 130(22):2709-2712. PubMed ID: 29133760
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