163 related articles for article (PubMed ID: 28704127)
1. Retinal miRNAs variations in a large cohort of inherited retinal disease.
Huang XF; Huang ZQ; Fang XL; Chen ZJ; Cheng W; Jin ZB
Ophthalmic Genet; 2018 Apr; 39(2):175-179. PubMed ID: 28704127
[TBL] [Abstract][Full Text] [Related]
2. Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Huang XF; Huang F; Wu KC; Wu J; Chen J; Pang CP; Lu F; Qu J; Jin ZB
Genet Med; 2015 Apr; 17(4):271-8. PubMed ID: 25356976
[TBL] [Abstract][Full Text] [Related]
3. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P; Villanueva AL; Soto-Hermida A; Duncan JL; Matsui H; Borooah S; Kurmanov B; Richard G; Khan SY; Branham K; Huang B; Suk J; Bakall B; Goldberg JL; Gabriel L; Khan NW; Raghavendra PB; Zhou J; Devalaraja S; Huynh A; Alapati A; Zawaydeh Q; Weleber RG; Heckenlively JR; Hejtmancik JF; Riazuddin S; Sieving PA; Riazuddin SA; Frazer KA; Ayyagari R
PLoS Genet; 2021 Oct; 17(10):e1009848. PubMed ID: 34662339
[TBL] [Abstract][Full Text] [Related]
4. Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L; Ratnapriya R; du Plessis M; Chaitankar V; Ramesar RS; Swaroop A
Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6374-6381. PubMed ID: 27898983
[TBL] [Abstract][Full Text] [Related]
5. Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Del Pozo-Valero M; Almoallem B; Dueñas Rey A; Mahieu Q; Van Heetvelde M; Jeddawi L; Bauwens M; De Baere E
Clin Genet; 2024 Aug; 106(2):127-139. PubMed ID: 38468396
[TBL] [Abstract][Full Text] [Related]
6. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah M; Shanks M; Packham E; Williams J; Haysmoore J; MacLaren RE; Németh AH; Clouston P; Downes SM
Ophthalmic Genet; 2020 Aug; 41(4):331-337. PubMed ID: 32543920
[TBL] [Abstract][Full Text] [Related]
7. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
[TBL] [Abstract][Full Text] [Related]
8. Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
Tajiguli A; Xu M; Fu Q; Yiming R; Wang K; Li Y; Eblimit A; Sui R; Chen R; Aisa HA
Sci Rep; 2016 Feb; 6():21384. PubMed ID: 26856745
[TBL] [Abstract][Full Text] [Related]
9. Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.
Huang XY; Zhuang H; Wu JH; Li JK; Hu FY; Zheng Y; Tellier LCAM; Zhang SH; Gao FJ; Zhang JG; Xu GZ
Mol Vis; 2017; 23():605-613. PubMed ID: 28867931
[TBL] [Abstract][Full Text] [Related]
10. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Maria M; Ajmal M; Azam M; Waheed NK; Siddiqui SN; Mustafa B; Ayub H; Ali L; Ahmad S; Micheal S; Hussain A; Shah ST; Ali SH; Ahmed W; Khan YM; den Hollander AI; Haer-Wigman L; Collin RW; Khan MI; Qamar R; Cremers FP
PLoS One; 2015; 10(3):e0119806. PubMed ID: 25775262
[TBL] [Abstract][Full Text] [Related]
11. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Pontikos N; Arno G; Jurkute N; Schiff E; Ba-Abbad R; Malka S; Gimenez A; Georgiou M; Wright G; Armengol M; Knight H; Katz M; Moosajee M; Yu-Wai-Man P; Moore AT; Michaelides M; Webster AR; Mahroo OA
Ophthalmology; 2020 Oct; 127(10):1384-1394. PubMed ID: 32423767
[TBL] [Abstract][Full Text] [Related]
12. Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
Liu X; Xiao J; Huang H; Guan L; Zhao K; Xu Q; Zhang X; Pan X; Gu S; Chen Y; Zhang J; Shen Y; Jiang H; Gao X; Kang X; Sheng X; Chen X; Zhao C
JAMA Ophthalmol; 2015 Apr; 133(4):427-36. PubMed ID: 25611614
[TBL] [Abstract][Full Text] [Related]
13. RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.
Li J; Xiao X; Li S; Jia X; Guo X; Zhang Q
Mol Med Rep; 2016 Nov; 14(5):4811-4815. PubMed ID: 27748892
[TBL] [Abstract][Full Text] [Related]
14. Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Van de Sompele S; Smith C; Karali M; Corton M; Van Schil K; Peelman F; Cherry T; Rosseel T; Verdin H; Derolez J; Van Laethem T; Khan KN; McKibbin M; Toomes C; Ali M; Torella A; Testa F; Jimenez B; Simonelli F; De Zaeytijd J; Van den Ende J; Leroy BP; Coppieters F; Ayuso C; Inglehearn CF; Banfi S; De Baere E
Genet Med; 2019 Jun; 21(6):1319-1329. PubMed ID: 30377383
[TBL] [Abstract][Full Text] [Related]
15. Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.
Chen ZJ; Lin KH; Lee SH; Shen RJ; Feng ZK; Wang XF; Huang XF; Huang ZQ; Jin ZB
Clin Exp Ophthalmol; 2020 May; 48(4):486-499. PubMed ID: 31872526
[TBL] [Abstract][Full Text] [Related]
16. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM; Nassisi M; Solis Hernandez C; Méjécase C; El Shamieh S; Condroyer C; Antonio A; Meunier I; Andrieu C; Defoort-Dhellemmes S; Mohand-Said S; Sahel JA; Audo I; Zeitz C
JAMA Ophthalmol; 2021 Mar; 139(3):278-291. PubMed ID: 33507216
[TBL] [Abstract][Full Text] [Related]
17. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D; Ben-Yosef T; Goldenberg-Cohen N; Pras E; Gradstein L; Soudry S; Mezer E; Zur D; Abbasi AH; Zeitz C; Cremers FPM; Khan MI; Levy J; Rotenstreich Y; Birk OS; Ehrenberg M; Leibu R; Newman H; Shomron N; Banin E; Perlman I
Hum Mutat; 2020 Jan; 41(1):140-149. PubMed ID: 31456290
[TBL] [Abstract][Full Text] [Related]
18. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Yang L; Fujinami K; Ueno S; Kuniyoshi K; Hayashi T; Kondo M; Mizota A; Naoi N; Shinoda K; Kameya S; Fujinami-Yokokawa Y; Liu X; Arno G; Pontikos N; Kominami T; Terasaki H; Sakuramoto H; Katagiri S; Mizobuchi K; Nakamura N; Mawatari G; Kurihara T; Tsubota K; Miyake Y; Yoshitake K; Iwata T; Tsunoda K;
Sci Rep; 2020 Mar; 10(1):5497. PubMed ID: 32218477
[TBL] [Abstract][Full Text] [Related]
19. Identification and Analysis of Genes Associated with Inherited Retinal Diseases.
Khan M; Fadaie Z; Cornelis SS; Cremers FPM; Roosing S
Methods Mol Biol; 2019; 1834():3-27. PubMed ID: 30324433
[TBL] [Abstract][Full Text] [Related]
20. Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.
Gopinath C; Rompicherla R; Mathias GP; Patil R; Poornachandra B; Vinekar A; Mochi TB; Braganza S; Shetty KB; Kumaramanickavel G; Ghosh A
Graefes Arch Clin Exp Ophthalmol; 2023 Jul; 261(7):2003-2017. PubMed ID: 36648511
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]