442 related articles for article (PubMed ID: 23847139)
1. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X; Wang H; Sun V; Tuan HF; Keser V; Wang K; Ren H; Lopez I; Zaneveld JE; Siddiqui S; Bowles S; Khan A; Salvo J; Jacobson SG; Iannaccone A; Wang F; Birch D; Heckenlively JR; Fishman GA; Traboulsi EI; Li Y; Wheaton D; Koenekoop RK; Chen R
J Med Genet; 2013 Oct; 50(10):674-88. PubMed ID: 23847139
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.
Shen T; Guan L; Li S; Zhang J; Xiao X; Jiang H; Yang J; Guo X; Wang J; Zhang Q
Mol Med Rep; 2015 Mar; 11(3):1827-32. PubMed ID: 25377065
[TBL] [Abstract][Full Text] [Related]
5. Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.
Pomares E; Riera M; Permanyer J; Méndez P; Castro-Navarro J; Andrés-Gutiérrez A; Marfany G; Gonzàlez-Duarte R
Eur J Hum Genet; 2010 Jan; 18(1):118-24. PubMed ID: 19584904
[TBL] [Abstract][Full Text] [Related]
6. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
den Hollander AI; Lopez I; Yzer S; Zonneveld MN; Janssen IM; Strom TM; Hehir-Kwa JY; Veltman JA; Arends ML; Meitinger T; Musarella MA; van den Born LI; Fishman GA; Maumenee IH; Rohrschneider K; Cremers FP; Koenekoop RK
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5690-8. PubMed ID: 18055821
[TBL] [Abstract][Full Text] [Related]
7. Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H; Wang X; Zou X; Xu S; Li H; Soens ZT; Wang K; Li Y; Dong F; Chen R; Sui R
Invest Ophthalmol Vis Sci; 2015 Jun; 56(6):3642-55. PubMed ID: 26047050
[TBL] [Abstract][Full Text] [Related]
8. Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Huang H; Wang Y; Chen H; Chen Y; Wu J; Chiang PW; Fan N; Su Y; Deng J; Chen D; Li Y; Zhang X; Zhang M; Liang S; Banerjee S; Qi M; Liu X
Oncotarget; 2017 May; 8(21):35176-35183. PubMed ID: 28456785
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.
Sundaramurthy S; Swaminathan M; Sen P; Arokiasamy T; Deshpande S; John N; Gadkari RA; Mannan AU; Soumittra N
J Hum Genet; 2016 Nov; 61(11):951-958. PubMed ID: 27383656
[TBL] [Abstract][Full Text] [Related]
12. 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]
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. 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. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Corton M; Avila-Fernandez A; Vallespín E; López-Molina MI; Almoguera B; Martín-Garrido E; Tatu SD; Khan MI; Blanco-Kelly F; Riveiro-Alvarez R; Brión M; García-Sandoval B; Cremers FPM; Carracedo A; Ayuso C
Ophthalmology; 2014 Jan; 121(1):399-407. PubMed ID: 24144451
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy.
Guo LY; Zheng SL; Li J; Zhu Q; Duan WH; Zhang Y; Zhu YT; Hu M
Ophthalmic Genet; 2019 Apr; 40(2):118-123. PubMed ID: 30924391
[TBL] [Abstract][Full Text] [Related]
17. Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L; Ouyang W; Zhang M; Wang H; Li S; Meng X; Yin ZQ
Ophthalmic Genet; 2021 Aug; 42(4):392-401. PubMed ID: 33970760
[No Abstract] [Full Text] [Related]
18. Mutations in human IFT140 cause non-syndromic retinal degeneration.
Xu M; Yang L; Wang F; Li H; Wang X; Wang W; Ge Z; Wang K; Zhao L; Li H; Li Y; Sui R; Chen R
Hum Genet; 2015 Oct; 134(10):1069-78. PubMed ID: 26216056
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.
Feldhaus B; Weisschuh N; Nasser F; den Hollander AI; Cremers FPM; Zrenner E; Kohl S; Zobor D
Am J Ophthalmol; 2020 Mar; 211():142-150. PubMed ID: 31734136
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
