149 related articles for article (PubMed ID: 27806333)
1. Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.
Lu L; Wang X; Lo D; Weng J; Liu X; Yang J; He F; Wang Y; Liu X
Oncotarget; 2016 Nov; 7(48):79797-79804. PubMed ID: 27806333
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
Kurata K; Hosono K; Hotta Y
Doc Ophthalmol; 2018 Aug; 137(1):47-56. PubMed ID: 30027431
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing.
Xiao J; Guo X; Wang Y; Shao M; Wei X; Du L; Li L; Sun Y; Yang Y
Eur J Ophthalmol; 2017 Nov; 27(6):791-796. PubMed ID: 28430325
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.
Zhang S; Li J; Li S; Yang Y; Yang M; Yang Z; Zhu X; Zhang L
Ophthalmic Genet; 2018 Aug; 39(4):487-491. PubMed ID: 29693493
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.
Paterson RL; De Roach JN; McLaren TL; Hewitt AW; Hoffmann L; Lamey TM
Mol Vis; 2012; 18():2043-52. PubMed ID: 22876132
[TBL] [Abstract][Full Text] [Related]
11. Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
Yang L; Wu L; Yin X; Chen N; Li G; Ma Z
Mol Vis; 2014; 20():359-67. PubMed ID: 24715753
[TBL] [Abstract][Full Text] [Related]
12. Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa.
Yang M; Li S; Liu W; Yang Y; Zhang L; Zhang S; Jiang Z; Yang Z; Zhu X
Genet Test Mol Biomarkers; 2018 Mar; 22(3):165-169. PubMed ID: 29437494
[TBL] [Abstract][Full Text] [Related]
13. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
Beheshtian M; Saee Rad S; Babanejad M; Mohseni M; Hashemi H; Eshghabadi A; Hajizadeh F; Akbari MR; Kahrizi K; Riazi Esfahani M; Najmabadi H
Arch Iran Med; 2015 Nov; 18(11):776-85. PubMed ID: 26497376
[TBL] [Abstract][Full Text] [Related]
14. Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
Riveiro-Alvarez R; Vallespin E; Wilke R; Garcia-Sandoval B; Cantalapiedra D; Aguirre-Lamban J; Avila-Fernandez A; Gimenez A; Trujillo-Tiebas MJ; Ayuso C
Mol Vis; 2008 Feb; 14():262-7. PubMed ID: 18334942
[TBL] [Abstract][Full Text] [Related]
15. Identification of Novel
Tian W; Li X; Li Y; Wang L; Yang Y; Sun K; Liu W; Zhou B; Lei B; Zhu X
Genet Test Mol Biomarkers; 2020 Nov; 24(11):745-753. PubMed ID: 33058741
[No Abstract] [Full Text] [Related]
16. A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation.
Wang Y; Lu L; Zhang D; Tan Y; Li D; He F; Jiao X; Yang M; Hejtmancik JF; Liu X
Eye (Lond); 2021 Jun; 35(6):1688-1696. PubMed ID: 32839555
[TBL] [Abstract][Full Text] [Related]
17. Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients.
Wang J; Xu D; Zhu T; Zhou Y; Chen X; Wang F; Zhang J; Tian H; Gao F; Zhang J; Jin C; Xu J; Lu L; Liu Q; Xu GT
Exp Eye Res; 2019 Nov; 188():107726. PubMed ID: 31319082
[TBL] [Abstract][Full Text] [Related]
18. Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.
Chen X; Liu X; Sheng X; Gao X; Zhang X; Li Z; Li H; Liu Y; Rong W; Zhao K; Zhao C
Sci Rep; 2015 Mar; 5():8927. PubMed ID: 25753737
[TBL] [Abstract][Full Text] [Related]
19. Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
Li L; Xiao X; Li S; Jiao X; Hejtmancik JF; Zhang Q
Mol Vis; 2011; 17():3326-32. PubMed ID: 22219627
[TBL] [Abstract][Full Text] [Related]
20. A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.
Paun CC; Pijl BJ; Siemiatkowska AM; Collin RW; Cremers FP; Hoyng CB; den Hollander AI
Mol Vis; 2012; 18():2447-53. PubMed ID: 23077403
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]