184 related articles for article (PubMed ID: 30835353)
1. [Identification of a novel RHO mutation in a pedigree affected with retinitis pigmentosa].
Bai Z; Liu L; Hu S; Wu Q; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar; 36(3):234-237. PubMed ID: 30835353
[TBL] [Abstract][Full Text] [Related]
2. Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Liu W; Guo R; Hao H; Ji J
BMC Ophthalmol; 2021 Oct; 21(1):360. PubMed ID: 34635090
[TBL] [Abstract][Full Text] [Related]
3. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.
Sultan N; Ali I; Bukhari SA; Baig SM; Asif M; Qasim M; Naseer MI; Rasool M
Genes Genomics; 2018 May; 40(5):553-559. PubMed ID: 29892959
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
den Hollander AI; van Lith-Verhoeven JJ; Arends ML; Strom TM; Cremers FP; Hoyng CB
Arch Ophthalmol; 2007 Jul; 125(7):932-5. PubMed ID: 17620573
[TBL] [Abstract][Full Text] [Related]
7. Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
Schuster A; Weisschuh N; Jägle H; Besch D; Janecke AR; Zierler H; Tippmann S; Zrenner E; Wissinger B
Br J Ophthalmol; 2005 Oct; 89(10):1258-64. PubMed ID: 16170112
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
Waseem NH; Vaclavik V; Webster A; Jenkins SA; Bird AC; Bhattacharya SS
Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1330-4. PubMed ID: 17325180
[TBL] [Abstract][Full Text] [Related]
10. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Ullah I; Kabir F; Iqbal M; Gottsch CB; Naeem MA; Assir MZ; Khan SN; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
Mol Vis; 2016; 22():797-815. PubMed ID: 27440997
[TBL] [Abstract][Full Text] [Related]
11. Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa.
Xie D; Peng K; Yi Q; Liu W; Yang Y; Sun K; Zhu X; Lu F
Genet Test Mol Biomarkers; 2018 Jul; 22(7):425-432. PubMed ID: 29957067
[TBL] [Abstract][Full Text] [Related]
12. [Genetic and prenatal diagnosis of a retinitis pigmentosa pedigree].
Kang H; Bai N; Mei S; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr; 35(2):184-187. PubMed ID: 29652988
[TBL] [Abstract][Full Text] [Related]
13. A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS; Bowne SJ; Koboldt DC; Cadena EL; Heckenlively JR; Branham KE; Wheaton DH; Jones KD; Ruiz RS; Pennesi ME; Yang P; Davis-Boozer D; Northrup H; Gurevich VV; Chen R; Xu M; Li Y; Birch DG; Daiger SP
Invest Ophthalmol Vis Sci; 2017 May; 58(5):2774-2784. PubMed ID: 28549094
[TBL] [Abstract][Full Text] [Related]
14. A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.
Nalbantoglu SM; Shahbazov C; Berdeli A
OMICS; 2012; 16(1-2):18-23. PubMed ID: 22321012
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
Neidhardt J; Barthelmes D; Farahmand F; Fleischhauer JC; Berger W
Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
[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. Mutation analysis of
Zhuang J; Zhang R; Zhou B; Cao Z; Zhou J; Chen X; Zhang N; Zhu Y; Yang J
Ophthalmic Genet; 2024 Apr; 45(2):147-152. PubMed ID: 38284172
[TBL] [Abstract][Full Text] [Related]
19. Heterozygous
Wu Y; Guo Y; Yi J; Xu H; Yuan L; Yang Z; Deng H
Biosci Rep; 2019 Jul; 39(7):. PubMed ID: 31239368
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]