473 related articles for article (PubMed ID: 26321861)
1. New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
de Sousa Dias M; Hernan I; Delás B; Pascual B; Borràs E; Gamundi MJ; Mañé B; Fernández-San José P; Ayuso C; Carballo M
Mol Vis; 2015; 21():857-70. PubMed ID: 26321861
[TBL] [Abstract][Full Text] [Related]
2. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS; Bowne SJ; Birch DG; Hughbanks-Wheaton D; Heckenlively JR; Lewis RA; Garcia CA; Ruiz RS; Blanton SH; Northrup H; Gire AI; Seaman R; Duzkale H; Spellicy CJ; Zhu J; Shankar SP; Daiger SP
Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3052-64. PubMed ID: 16799052
[TBL] [Abstract][Full Text] [Related]
3. Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.
Beryozkin A; Levy G; Blumenfeld A; Meyer S; Namburi P; Morad Y; Gradstein L; Swaroop A; Banin E; Sharon D
Invest Ophthalmol Vis Sci; 2016 Mar; 57(3):940-7. PubMed ID: 26962691
[TBL] [Abstract][Full Text] [Related]
4. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martínez-Gimeno M; Gamundi MJ; Hernan I; Maseras M; Millá E; Ayuso C; García-Sandoval B; Beneyto M; Vilela C; Baiget M; Antiñolo G; Carballo M
Invest Ophthalmol Vis Sci; 2003 May; 44(5):2171-7. PubMed ID: 12714658
[TBL] [Abstract][Full Text] [Related]
5. Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
de Sousa Dias M; Hernan I; Pascual B; Borràs E; Mañé B; Gamundi MJ; Carballo M
Mol Vis; 2013; 19():654-64. PubMed ID: 23559859
[TBL] [Abstract][Full Text] [Related]
6. Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
Gandra M; Anandula V; Authiappan V; Sundaramurthy S; Raman R; Bhattacharya S; Govindasamy K
Mol Vis; 2008 Jun; 14():1105-13. PubMed ID: 18552984
[TBL] [Abstract][Full Text] [Related]
7. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C; Coppieters F; Roels D; De Jaegere S; Flipts H; De Zaeytijd J; Walraedt S; Claes C; Fransen E; Van Camp G; Depasse F; Casteels I; de Ravel T; Leroy BP; De Baere E
PLoS One; 2017; 12(1):e0170038. PubMed ID: 28076437
[TBL] [Abstract][Full Text] [Related]
8. Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
Borràs E; de Sousa Dias M; Hernan I; Pascual B; Mañé B; Gamundi MJ; Delás B; Carballo M
Clin Genet; 2013 Nov; 84(5):441-52. PubMed ID: 23534816
[TBL] [Abstract][Full Text] [Related]
9. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
Sullivan LS; Bowne SJ; Seaman CR; Blanton SH; Lewis RA; Heckenlively JR; Birch DG; Hughbanks-Wheaton D; Daiger SP
Invest Ophthalmol Vis Sci; 2006 Oct; 47(10):4579-88. PubMed ID: 17003455
[TBL] [Abstract][Full Text] [Related]
10. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Bowne SJ; Daiger SP; Hims MM; Sohocki MM; Malone KA; McKie AB; Heckenlively JR; Birch DG; Inglehearn CF; Bhattacharya SS; Bird A; Sullivan LS
Hum Mol Genet; 1999 Oct; 8(11):2121-8. PubMed ID: 10484783
[TBL] [Abstract][Full Text] [Related]
11. Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I; Aguilera-Garcia D; Fernandez-San Jose P; Blanco-Kelly F; Zurita O; Almoguera B; Garcia-Sandoval B; Avila-Fernandez A; Arteche A; Minguez P; Carballo M; Corton M; Ayuso C
Invest Ophthalmol Vis Sci; 2018 May; 59(6):2345-2354. PubMed ID: 29847639
[TBL] [Abstract][Full Text] [Related]
12. Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Sullivan LS; Bowne SJ; Reeves MJ; Blain D; Goetz K; Ndifor V; Vitez S; Wang X; Tumminia SJ; Daiger SP
Invest Ophthalmol Vis Sci; 2013 Sep; 54(9):6255-61. PubMed ID: 23950152
[TBL] [Abstract][Full Text] [Related]
13. Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
Gamundi MJ; Hernan I; Muntanyola M; Maseras M; López-Romero P; Alvarez R; Dopazo A; Borrego S; Carballo M
Hum Mutat; 2008 Jun; 29(6):869-78. PubMed ID: 18412284
[TBL] [Abstract][Full Text] [Related]
14. [Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families].
Brzeziańska E; Zdzieszyńska M; Goś R; Lewiński A
Klin Oczna; 2004; 106(6):743-8. PubMed ID: 15787173
[TBL] [Abstract][Full Text] [Related]
15. Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Zhao K; Xiong S; Wang L; Wang L; Cui Y; Wang Q
Ophthalmic Genet; 2001 Sep; 22(3):155-62. PubMed ID: 11559857
[TBL] [Abstract][Full Text] [Related]
16. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
Katagiri S; Hayashi T; Mizobuchi K; Yoshitake K; Iwata T; Nakano T
Ophthalmic Genet; 2018 Jun; 39(3):357-365. PubMed ID: 29630435
[TBL] [Abstract][Full Text] [Related]
17. Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Coussa RG; Chakarova C; Ajlan R; Taha M; Kavalec C; Gomolin J; Khan A; Lopez I; Ren H; Waseem N; Kamenarova K; Bhattacharya SS; Koenekoop RK
Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8297-305. PubMed ID: 26720483
[TBL] [Abstract][Full Text] [Related]
18. Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
Daiger SP; Sullivan LS; Bowne SJ; Koboldt DC; Blanton SH; Wheaton DK; Avery CE; Cadena ED; Koenekoop RK; Fulton RS; Wilson RK; Weinstock GM; Lewis RA; Birch DG
Adv Exp Med Biol; 2016; 854():193-200. PubMed ID: 26427411
[TBL] [Abstract][Full Text] [Related]
19. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
Martinez-Gimeno M; Maseras M; Baiget M; Beneito M; Antiñolo G; Ayuso C; Carballo M
Hum Mutat; 2001 Jun; 17(6):520. PubMed ID: 11385710
[TBL] [Abstract][Full Text] [Related]
20. NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
Bessant DA; Payne AM; Plant C; Bird AC; Swaroop A; Bhattacharya SS
Eur J Hum Genet; 2000 Oct; 8(10):783-7. PubMed ID: 11039579
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]