130 related articles for article (PubMed ID: 35101627)
1. A novel c.1937T>C (p.Leu646Pro) missense mutation in a patient with Leber congenital amaurosis.
Kaur S; Sukhija J; Kaur A; Srivastava P; Katoch D; Singh SR; Chaudhary K
J AAPOS; 2022 Feb; 26(1):34-35. PubMed ID: 35101627
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
Safieh LA; Al-Otaibi HM; Lewis RA; Kozak I
Middle East Afr J Ophthalmol; 2016; 23(1):139-41. PubMed ID: 26957854
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
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. Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in
Gul H; Haleem Shah A; Harripaul R; Wajid Abbasi S; Faheem M; Zubair M; Muzammal M; Khan S; B Vincent J; Ahmad Khan M
J Genet; 2021; 100():. PubMed ID: 34470921
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC; Georgiou M; Almushattat H; van Schooneveld MJ; de Carvalho ER; Wesseling NL; Ten Brink JB; Florijn RJ; Lissenberg-Witte BI; Strubbe I; van Cauwenbergh C; de Zaeytijd J; Walraedt S; de Baere E; Mukherjee R; McKibbin M; Meester-Smoor MA; Thiadens AAHJ; Al-Khuzaei S; Akyol E; Lotery AJ; van Genderen MM; Ossewaarde-van Norel J; van den Born LI; Hoyng CB; Klaver CCW; Downes SM; Bergen AA; Leroy BP; Michaelides M; Boon CJF
Ophthalmol Retina; 2022 Aug; 6(8):711-722. PubMed ID: 35314386
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
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. 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]
15. 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]
16. Pathogenicity Reclasssification of
Motta FL; Martin RP; Porto FBO; Wohler ES; Resende RG; Gomes CP; Pesquero JB; Sallum JMF
Genes (Basel); 2019 Dec; 11(1):. PubMed ID: 31878136
[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. Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.
Arcot Sadagopan K; Battista R; Keep RB; Capasso JE; Levin AV
Ophthalmic Genet; 2015 Jun; 36(2):156-9. PubMed ID: 24093488
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.
Imani S; Cheng J; Mobasher-Jannat A; Wei C; Fu S; Yang L; Jadidi K; Khosravi MH; Mohazzab-Torabi S; Shasaltaneh MD; Li Y; Chen R; Fu J
J Cell Mol Med; 2018 Mar; 22(3):1733-1742. PubMed ID: 29193763
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
