BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 25988908)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the
    Abad-Morales V; Wert A; Ruiz Gómez MÁ; Navarro R; Pomares E
    Int J Mol Sci; 2021 Feb; 22(5):. PubMed ID: 33668384
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in
    Kayazawa T; Kuniyoshi K; Hatsukawa Y; Fujinami K; Yoshitake K; Tsunoda K; Shimojo H; Iwata T; Kusaka S
    Ophthalmic Genet; 2022 Jun; 43(3):400-408. PubMed ID: 35026968
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.
    Sadr Z; Ghasemi A; Rohani M; Alavi A
    Neuromuscul Disord; 2023 Apr; 33(4):295-301. PubMed ID: 36871412
    [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. Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.
    Siemiatkowska AM; Schuurs-Hoeijmakers JH; Bosch DG; Boonstra FN; Riemslag FC; Ruiter M; de Vries BB; den Hollander AI; Collin RW; Cremers FP
    JAMA Ophthalmol; 2014 Aug; 132(8):1002-4. PubMed ID: 24830548
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
    Surl D; Shin S; Lee ST; Choi JR; Lee J; Byeon SH; Han SH; Lim HT; Han J
    Mol Vis; 2020; 26():26-35. PubMed ID: 32165824
    [TBL] [Abstract][Full Text] [Related]  

  • 20. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.
    Eblimit A; Zaneveld SA; Liu W; Thomas K; Wang K; Li Y; Mardon G; Chen R
    Exp Eye Res; 2018 Aug; 173():32-43. PubMed ID: 29674119
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.