310 related articles for article (PubMed ID: 30451805)
1. Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
Xiang Q; Guo Y; Cao Y; Xiong W; Deng X; Xu H; Li Y; Du D; Deng H
Optom Vis Sci; 2018 Dec; 95(12):1155-1161. PubMed ID: 30451805
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
Zhou Y; Saikia BB; Jiang Z; Zhu X; Liu Y; Huang L; Kim R; Yang Y; Qu C; Hao F; Gong B; Tai Z; Niu L; Yang Z; Sundaresan P; Zhu X
J Hum Genet; 2015 Oct; 60(10):625-30. PubMed ID: 26246154
[TBL] [Abstract][Full Text] [Related]
8. Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene
Radojevic B; Jones K; Klein M; Mauro-Herrera M; Kingsley R; Birch DG; Bennett LD
Ophthalmic Genet; 2021 Feb; 42(1):15-22. PubMed ID: 33465333
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
Aziz N; Ullah M; Rashid A; Hussain Z; Shah K; Awan A; Khan M; Ullah I; Rehman AU
BMC Ophthalmol; 2023 Mar; 23(1):116. PubMed ID: 36959549
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
Shen C; You B; Chen YN; Li Y; Li W; Wei WB
Mol Vis; 2022; 28():96-113. PubMed ID: 35814500
[TBL] [Abstract][Full Text] [Related]
13. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
Coussa RG; Otto EA; Gee HY; Arthurs P; Ren H; Lopez I; Keser V; Fu Q; Faingold R; Khan A; Schwartzentruber J; Majewski J; Hildebrandt F; Koenekoop RK
Clin Genet; 2013 Aug; 84(2):150-9. PubMed ID: 23683095
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A large animal model for CNGB1 autosomal recessive retinitis pigmentosa.
Winkler PA; Ekenstedt KJ; Occelli LM; Frattaroli AV; Bartoe JT; Venta PJ; Petersen-Jones SM
PLoS One; 2013; 8(8):e72229. PubMed ID: 23977260
[TBL] [Abstract][Full Text] [Related]
16. Mutational Spectrum, Ocular and Olfactory Phenotypes of
Geada S; Teixeira-Marques F; Teixeira B; Carvalho AL; Lousan N; Saraiva J; Murta J; Silva R; Zanlonghi X; Defoort-Dhellemmes S; Smirnov V; Dhaenens CM; Blanchet C; Meunier I; Marques JP
Genes (Basel); 2023 Mar; 14(4):. PubMed ID: 37107588
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.
Liu S; Xie L; Yue J; Ma T; Peng C; Qiu B; Yang Z; Yang J
Int J Mol Med; 2016 Jun; 37(6):1528-34. PubMed ID: 27082927
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]