BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

312 related articles for article (PubMed ID: 17512964)

  • 1. Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
    Sun W; Gerth C; Maeda A; Lodowski DT; Van Der Kraak L; Saperstein DA; Héon E; Palczewski K
    Vision Res; 2007 Jul; 47(15):2055-66. PubMed ID: 17512964
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF; Jitskii S; Buentello-Volante B; Quevedo-Martinez J; Zenteno JC
    Gene; 2013 Oct; 528(2):178-82. PubMed ID: 23900199
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
    Thompson DA; Janecke AR; Lange J; Feathers KL; Hübner CA; McHenry CL; Stockton DW; Rammesmayer G; Lupski JR; Antinolo G; Ayuso C; Baiget M; Gouras P; Heckenlively JR; den Hollander A; Jacobson SG; Lewis RA; Sieving PA; Wissinger B; Yzer S; Zrenner E; Utermann G; Gal A
    Hum Mol Genet; 2005 Dec; 14(24):3865-75. PubMed ID: 16269441
    [TBL] [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; 10(7):e0131679. PubMed ID: 26147992
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
    Perrault I; Hanein S; Gerber S; Barbet F; Ducroq D; Dollfus H; Hamel C; Dufier JL; Munnich A; Kaplan J; Rozet JM
    Am J Hum Genet; 2004 Oct; 75(4):639-46. PubMed ID: 15322982
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
    Bowne SJ; Sullivan LS; Mortimer SE; Hedstrom L; Zhu J; Spellicy CJ; Gire AI; Hughbanks-Wheaton D; Birch DG; Lewis RA; Heckenlively JR; Daiger SP
    Invest Ophthalmol Vis Sci; 2006 Jan; 47(1):34-42. PubMed ID: 16384941
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
    Sweeney MO; McGee TL; Berson EL; Dryja TP
    Mol Vis; 2007 Apr; 13():588-93. PubMed ID: 17438524
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
    Zou X; Fu Q; Fang S; Li H; Ge Z; Yang L; Xu M; Sun Z; Li H; Li Y; Dong F; Chen R; Sui R
    Retina; 2019 Oct; 39(10):2040-2052. PubMed ID: 30134391
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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; 48(4):1824-31. PubMed ID: 17389517
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; ; 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
    Jin J; Liang L; Jin K; Zhang HJ; Liu R; Shen Y
    Brain Topogr; 2022 Jul; 35(4):525-535. PubMed ID: 35006499
    [TBL] [Abstract][Full Text] [Related]  

  • 13. RDH12 retinopathy: novel mutations and phenotypic description.
    Mackay DS; Dev Borman A; Moradi P; Henderson RH; Li Z; Wright GA; Waseem N; Gandra M; Thompson DA; Bhattacharya SS; Holder GE; Webster AR; Moore AT
    Mol Vis; 2011; 17():2706-16. PubMed ID: 22065924
    [TBL] [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; 104(7):932-937. PubMed ID: 31630094
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 47(3):1167-76. PubMed ID: 16505055
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 9():14-7. PubMed ID: 12552256
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.
    Valverde D; Pereiro I; Vallespín E; Ayuso C; Borrego S; Baiget M
    Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1065-8. PubMed ID: 19011012
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
    Zobor D; Brühwiler B; Zrenner E; Weisschuh N; Kohl S
    Int J Mol Sci; 2023 May; 24(10):. PubMed ID: 37240262
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 48(12):5653-61. PubMed ID: 18055816
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.