These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 27010695)

  • 1. Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration.
    den Hollander AI
    Invest Ophthalmol Vis Sci; 2016 Mar; 57(3):1378-87. PubMed ID: 27010695
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.
    Kondkar AA; Abu-Amero KK
    Exp Eye Res; 2019 Dec; 189():107834. PubMed ID: 31639339
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
    Kumaran N; Moore AT; Weleber RG; Michaelides M
    Br J Ophthalmol; 2017 Sep; 101(9):1147-1154. PubMed ID: 28689169
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Available Evidence on Leber Congenital Amaurosis and Gene Therapy.
    Alkharashi M; Fulton AB
    Semin Ophthalmol; 2017; 32(1):14-21. PubMed ID: 27686653
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
    Li Y; Pan Q; Gu YS
    J Zhejiang Univ Sci B; 2017 May; 18(5):421-429. PubMed ID: 28471114
    [TBL] [Abstract][Full Text] [Related]  

  • 6. IQCB1 mutations in patients with leber congenital amaurosis.
    Estrada-Cuzcano A; Koenekoop RK; Coppieters F; Kohl S; Lopez I; Collin RW; De Baere EB; Roeleveld D; Marek J; Bernd A; Rohrschneider K; van den Born LI; Meire F; Maumenee IH; Jacobson SG; Hoyng CB; Zrenner E; Cremers FP; den Hollander AI
    Invest Ophthalmol Vis Sci; 2011 Feb; 52(2):834-9. PubMed ID: 20881296
    [TBL] [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; 52(6):3032-8. PubMed ID: 21310915
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.
    Seong MW; Seo SH; Yu YS; Hwang JM; Cho SI; Ra EK; Park H; Lee SJ; Kim JY; Park SS
    J Mol Diagn; 2015 Jan; 17(1):100-5. PubMed ID: 25445212
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 254(11):2227-2238. PubMed ID: 27422788
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 33(12):876-83. PubMed ID: 25148430
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
    Gradstein L; Zolotushko J; Sergeev YV; Lavy I; Narkis G; Perez Y; Guigui S; Sharon D; Banin E; Walter E; Lifshitz T; Birk OS
    BMC Med Genet; 2016 Jul; 17(1):52. PubMed ID: 27475985
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel RDH12 sequence variations in Leber congenital amaurosis.
    Sodi A; Caputo R; Passerini I; Bacci GM; Menchini U
    J AAPOS; 2010 Aug; 14(4):349-51. PubMed ID: 20736127
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
    Xu Y; Xiao X; Li S; Jia X; Xin W; Wang P; Sun W; Huang L; Guo X; Zhang Q
    Exp Eye Res; 2016 Aug; 149():93-99. PubMed ID: 27375279
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 10(7):e0131679. PubMed ID: 26147992
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 253(12):2239-46. PubMed ID: 26464178
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
    Estrada-Cuzcano A; Roepman R; Cremers FP; den Hollander AI; Mans DA
    Hum Mol Genet; 2012 Oct; 21(R1):R111-24. PubMed ID: 22843501
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.
    Chung DC; Traboulsi EI
    J AAPOS; 2009 Dec; 13(6):587-92. PubMed ID: 20006823
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Leber congenital amaurosis in a young female.
    Connelly AM; Grosel JM
    JAAPA; 2019 Oct; 32(10):1-4. PubMed ID: 31567747
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.
    Coussa RG; Lopez Solache I; Koenekoop RK
    Ophthalmic Genet; 2017; 38(1):7-15. PubMed ID: 28095138
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.