BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

365 related articles for article (PubMed ID: 26464178)

  • 1. 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]  

  • 2. NMNAT1 mutations cause Leber congenital amaurosis.
    Falk MJ; Zhang Q; Nakamaru-Ogiso E; Kannabiran C; Fonseca-Kelly Z; Chakarova C; Audo I; Mackay DS; Zeitz C; Borman AD; Staniszewska M; Shukla R; Palavalli L; Mohand-Said S; Waseem NH; Jalali S; Perin JC; Place E; Ostrovsky J; Xiao R; Bhattacharya SS; Consugar M; Webster AR; Sahel JA; Moore AT; Berson EL; Liu Q; Gai X; Pierce EA
    Nat Genet; 2012 Sep; 44(9):1040-5. PubMed ID: 22842227
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
    Coppieters F; Todeschini AL; Fujimaki T; Baert A; De Bruyne M; Van Cauwenbergh C; Verdin H; Bauwens M; Ongenaert M; Kondo M; Meire F; Murakami A; Veitia RA; Leroy BP; De Baere E
    Hum Mutat; 2015 Dec; 36(12):1188-96. PubMed ID: 26316326
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
    Han J; Rim JH; Hwang IS; Kim J; Shin S; Lee ST; Choi JR
    Mol Vis; 2017; 23():649-659. PubMed ID: 28966547
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.
    Deng Y; Huang H; Wang Y; Liu Z; Li N; Chen Y; Li X; Li M; Zhou X; Mu D; Zhong J; Wu J; Su Y; Yi X; Zhu J
    Gene; 2015 Sep; 569(1):104-8. PubMed ID: 25988908
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
    Guo Y; Prokudin I; Yu C; Liang J; Xie Y; Flaherty M; Tian L; Crofts S; Wang F; Snyder J; Donaldson C; Abdel-Magid N; Vazquez L; Keating B; Hakonarson H; Wang J; Jamieson RV
    Ophthalmic Genet; 2015; 36(4):333-8. PubMed ID: 24547928
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
    Siemiatkowska AM; van den Born LI; van Genderen MM; Bertelsen M; Zobor D; Rohrschneider K; van Huet RA; Nurohmah S; Klevering BJ; Kohl S; Faradz SM; Rosenberg T; den Hollander AI; Collin RW; Cremers FP
    Mol Vis; 2014; 20():753-9. PubMed ID: 24940029
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
    Chiang PW; Wang J; Chen Y; Fu Q; Zhong J; Chen Y; Yi X; Wu R; Gan H; Shi Y; Chen Y; Barnett C; Wheaton D; Day M; Sutherland J; Heon E; Weleber RG; Gabriel LA; Cong P; Chuang K; Ye S; Sallum JM; Qi M
    Nat Genet; 2012 Sep; 44(9):972-4. PubMed ID: 22842231
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
    Khan AO; Budde BS; Nürnberg P; Kawalia A; Lenzner S; Bolz HJ
    Clin Genet; 2018 Jan; 93(1):149-154. PubMed ID: 28369829
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
    Skorczyk-Werner A; Niedziela Z; Stopa M; Krawczyński MR
    Orphanet J Rare Dis; 2020 Dec; 15(1):345. PubMed ID: 33308271
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutation identified in Leber congenital amaurosis - a case report.
    Sato S; Morimoto T; Tanaka S; Hotta K; Fujikado T; Tsujikawa M; Nishida K
    BMC Ophthalmol; 2020 Jul; 20(1):313. PubMed ID: 32736544
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
    Koenekoop RK; Wang H; Majewski J; Wang X; Lopez I; Ren H; Chen Y; Li Y; Fishman GA; Genead M; Schwartzentruber J; Solanki N; Traboulsi EI; Cheng J; Logan CV; McKibbin M; Hayward BE; Parry DA; Johnson CA; Nageeb M; ; Poulter JA; Mohamed MD; Jafri H; Rashid Y; Taylor GR; Keser V; Mardon G; Xu H; Inglehearn CF; Fu Q; Toomes C; Chen R
    Nat Genet; 2012 Sep; 44(9):1035-9. PubMed ID: 22842230
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.
    Hosono K; Nishina S; Yokoi T; Katagiri S; Saitsu H; Kurata K; Miyamichi D; Hikoya A; Mizobuchi K; Nakano T; Minoshima S; Fukami M; Kondo H; Sato M; Hayashi T; Azuma N; Hotta Y
    Sci Rep; 2018 May; 8(1):8279. PubMed ID: 29844330
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
    Kumaran N; Robson AG; Michaelides M
    Retin Cases Brief Rep; 2021 Mar; 15(2):139-144. PubMed ID: 30004997
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The genetic profile of Leber congenital amaurosis in an Australian cohort.
    Thompson JA; De Roach JN; McLaren TL; Montgomery HE; Hoffmann LH; Campbell IR; Chen FK; Mackey DA; Lamey TM
    Mol Genet Genomic Med; 2017 Nov; 5(6):652-667. PubMed ID: 29178642
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
    Skorczyk-Werner A; Sowińska-Seidler A; Wawrocka A; Walczak-Sztulpa J; Krawczyński MR
    J Appl Genet; 2023 Feb; 64(1):89-104. PubMed ID: 36369640
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.