118 related articles for article (PubMed ID: 12362048)
1. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.
Paloma E; Martínez-Mir A; García-Sandoval B; Ayuso C; Vilageliu L; Gonzàlez-Duarte R; Balcells S
J Med Genet; 2002 Oct; 39(10):E66. PubMed ID: 12362048
[No Abstract] [Full Text] [Related]
2. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
Zhang Q; Zulfiqar F; Riazuddin SA; Xiao X; Ahmad Z; Riazuddin S; Hejtmancik JF
Mol Vis; 2004 Nov; 10():884-9. PubMed ID: 15570217
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Dryja TP; Finn JT; Peng YW; McGee TL; Berson EL; Yau KW
Proc Natl Acad Sci U S A; 1995 Oct; 92(22):10177-81. PubMed ID: 7479749
[TBL] [Abstract][Full Text] [Related]
4. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
Bareil C; Hamel CP; Delague V; Arnaud B; Demaille J; Claustres M
Hum Genet; 2001 Apr; 108(4):328-34. PubMed ID: 11379879
[TBL] [Abstract][Full Text] [Related]
5. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
Huang SH; Pittler SJ; Huang X; Oliveira L; Berson EL; Dryja TP
Nat Genet; 1995 Dec; 11(4):468-71. PubMed ID: 7493036
[TBL] [Abstract][Full Text] [Related]
6. A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane.
Gao Q; Liu Y; Lei X; Deng Q; Tong Y; Du L; Shen Y
Biochem Genet; 2019 Aug; 57(4):540-554. PubMed ID: 30652268
[TBL] [Abstract][Full Text] [Related]
7. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
Katagiri S; Akahori M; Sergeev Y; Yoshitake K; Ikeo K; Furuno M; Hayashi T; Kondo M; Ueno S; Tsunoda K; Shinoda K; Kuniyoshi K; Tsurusaki Y; Matsumoto N; Tsuneoka H; Iwata T
PLoS One; 2014; 9(9):e108721. PubMed ID: 25268133
[TBL] [Abstract][Full Text] [Related]
8. Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.
Wang L; Zou T; Lin Y; Li L; Zhang P; Gong B; Hao J; Zhang H
Mol Med Rep; 2020 Sep; 22(3):2516-2520. PubMed ID: 32705276
[TBL] [Abstract][Full Text] [Related]
9. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
Kondo H; Qin M; Mizota A; Kondo M; Hayashi H; Hayashi K; Oshima K; Tahira T; Hayashi K
Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4433-9. PubMed ID: 15557452
[TBL] [Abstract][Full Text] [Related]
10. Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
Valverde D; Baiget M; Seminago R; del Rio E; García-Sandoval B; del Rio T; Bayés M; Balcells S; Martínez A; Grinberg D; Ayuso C
Hum Mutat; 1996; 8(4):393-4. PubMed ID: 8956055
[No Abstract] [Full Text] [Related]
11. Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing.
Wang M; Gan D; Huang X; Xu G
BMC Ophthalmol; 2016 Jul; 16():101. PubMed ID: 27391953
[TBL] [Abstract][Full Text] [Related]
12. A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant.
Saito K; Gotoh N; Kang I; Shimada T; Usui T; Terao C
Sci Rep; 2021 Feb; 11(1):4681. PubMed ID: 33633220
[TBL] [Abstract][Full Text] [Related]
13. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.
Rosenfeld PJ; Cowley GS; McGee TL; Sandberg MA; Berson EL; Dryja TP
Nat Genet; 1992 Jun; 1(3):209-13. PubMed ID: 1303237
[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. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Ksantini M; Lafont E; Bocquet B; Meunier I; Hamel CP
Eur J Ophthalmol; 2012; 22(4):647-53. PubMed ID: 22180149
[TBL] [Abstract][Full Text] [Related]
16. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
Bernal S; Ayuso C; Antiñolo G; Gimenez A; Borrego S; Trujillo MJ; Marcos I; Calaf M; Del Rio E; Baiget M
J Med Genet; 2003 Jan; 40(1):e8. PubMed ID: 12525556
[No Abstract] [Full Text] [Related]
17. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
Dvir L; Srour G; Abu-Ras R; Miller B; Shalev SA; Ben-Yosef T
Am J Hum Genet; 2010 Aug; 87(2):258-64. PubMed ID: 20655036
[TBL] [Abstract][Full Text] [Related]
18. Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
Bernal S; Calaf M; Garcia-Hoyos M; Garcia-Sandoval B; Rosell J; Adan A; Ayuso C; Baiget M
J Med Genet; 2003 Jul; 40(7):e89. PubMed ID: 12843338
[No Abstract] [Full Text] [Related]
19. Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.
Valverde D; Vázquez-Gundín F; del Rio E; Calaf M; Fernández JL; Baiget M
Ophthalmic Genet; 1998 Dec; 19(4):197-202. PubMed ID: 9895244
[TBL] [Abstract][Full Text] [Related]
20. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
Corton M; Avila-Fernández A; Campello L; Sánchez M; Benavides B; López-Molina MI; Fernández-Sánchez L; Sánchez-Alcudia R; da Silva LRJ; Reyes N; Martín-Garrido E; Zurita O; Fernández-San José P; Pérez-Carro R; García-García F; Dopazo J; García-Sandoval B; Cuenca N; Ayuso C
Sci Rep; 2016 Oct; 6():35370. PubMed ID: 27734943
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]