373 related articles for article (PubMed ID: 20696082)
1. Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
Huang Y; Zhang J; Li C; Yang G; Liu M; Wang QK; Tang Z
BMC Med Genet; 2010 Aug; 11():121. PubMed ID: 20696082
[TBL] [Abstract][Full Text] [Related]
2. Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
Hosono K; Ishigami C; Takahashi M; Park DH; Hirami Y; Nakanishi H; Ueno S; Yokoi T; Hikoya A; Fujita T; Zhao Y; Nishina S; Shin JP; Kim IT; Yamamoto S; Azuma N; Terasaki H; Sato M; Kondo M; Minoshima S; Hotta Y
PLoS One; 2012; 7(2):e31036. PubMed ID: 22363543
[TBL] [Abstract][Full Text] [Related]
3. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
Collin RW; Littink KW; Klevering BJ; van den Born LI; Koenekoop RK; Zonneveld MN; Blokland EA; Strom TM; Hoyng CB; den Hollander AI; Cremers FP
Am J Hum Genet; 2008 Nov; 83(5):594-603. PubMed ID: 18976725
[TBL] [Abstract][Full Text] [Related]
4. Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.
Khan MI; Collin RW; Arimadyo K; Micheal S; Azam M; Qureshi N; Faradz SM; den Hollander AI; Qamar R; Cremers FP
Mol Vis; 2010 Dec; 16():2753-9. PubMed ID: 21179430
[TBL] [Abstract][Full Text] [Related]
5. Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
Abd El-Aziz MM; O'Driscoll CA; Kaye RS; Barragan I; El-Ashry MF; Borrego S; Antiñolo G; Pang CP; Webster AR; Bhattacharya SS
Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):4266-72. PubMed ID: 20237254
[TBL] [Abstract][Full Text] [Related]
6. Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.
Gan L; Yang C; Shu Y; Liu F; Sun R; Deng B; Xu J; Huang G; Qu C; Gong B; Li J
Clin Chim Acta; 2020 Aug; 507():17-22. PubMed ID: 32277948
[TBL] [Abstract][Full Text] [Related]
7. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Bandah-Rozenfeld D; Littink KW; Ben-Yosef T; Strom TM; Chowers I; Collin RW; den Hollander AI; van den Born LI; Zonneveld MN; Merin S; Banin E; Cremers FP; Sharon D
Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4387-94. PubMed ID: 20375346
[TBL] [Abstract][Full Text] [Related]
8. Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.
Wei C; Xiao T; Cheng J; Fu J; Zhou Q; Yang L; Lv H; Fu J
Biosci Rep; 2020 Jun; 40(6):. PubMed ID: 32436957
[TBL] [Abstract][Full Text] [Related]
9. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
Guo X; Li J; Wang Q; Shu Y; Wang J; Chen L; Zhang H; Shi Y; Yang J; Lu F; Jiang L; Qu C; Gong B
Mol Med Rep; 2019 Sep; 20(3):2922-2928. PubMed ID: 31322236
[TBL] [Abstract][Full Text] [Related]
10. Five major sequence variants and copy number variants in the
Iwanami M; Oishi A; Ogino K; Seko Y; Nishida-Shimizu T; Yoshimura N; Kato S
Mol Vis; 2019; 25():766-779. PubMed ID: 31814702
[TBL] [Abstract][Full Text] [Related]
11. Whole exome sequencing reveals novel
Xiao X; Cao Y; Chen S; Chen M; Mai X; Zheng Y; Zhuang X; Ng TK; Chen H
Mol Vis; 2019; 25():35-46. PubMed ID: 30804660
[TBL] [Abstract][Full Text] [Related]
12. A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.
Kartasasmita A; Fujiki K; Iskandar E; Sovani I; Fujimaki T; Murakami A
Ophthalmic Genet; 2011 Mar; 32(1):57-63. PubMed ID: 21174529
[TBL] [Abstract][Full Text] [Related]
13. A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
Tiab L; Largueche L; Chouchane I; Derouiche K; Munier FL; El Matri L; Schorderet DF
Mol Vis; 2013; 19():829-34. PubMed ID: 23592920
[TBL] [Abstract][Full Text] [Related]
14. High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.
Iwanami M; Oshikawa M; Nishida T; Nakadomari S; Kato S
Invest Ophthalmol Vis Sci; 2012 Feb; 53(2):1033-40. PubMed ID: 22302105
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
Bocquet B; Marzouka NA; Hebrard M; Manes G; Sénéchal A; Meunier I; Hamel CP
Mol Vis; 2013; 19():2487-500. PubMed ID: 24339724
[TBL] [Abstract][Full Text] [Related]
17. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Barragán I; Borrego S; Pieras JI; González-del Pozo M; Santoyo J; Ayuso C; Baiget M; Millan JM; Mena M; Abd El-Aziz MM; Audo I; Zeitz C; Littink KW; Dopazo J; Bhattacharya SS; Antiñolo G
Hum Mutat; 2010 Nov; 31(11):E1772-800. PubMed ID: 21069908
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
Siemiatkowska AM; Astuti GD; Arimadyo K; den Hollander AI; Faradz SM; Cremers FP; Collin RW
Mol Vis; 2012; 18():2411-9. PubMed ID: 23077400
[TBL] [Abstract][Full Text] [Related]
19. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF
Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
[TBL] [Abstract][Full Text] [Related]
20. Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
Di Y; Huang L; Sundaresan P; Li S; Kim R; Ballav Saikia B; Qu C; Zhu X; Zhou Y; Jiang Z; Zhang L; Lin Y; Zhang D; Li Y; Zhang H; Yin Y; Lu F; Zhu X; Yang Z
Sci Rep; 2016 Jan; 6():19432. PubMed ID: 26787102
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]