405 related articles for article (PubMed ID: 24618324)
1. Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
Jinda W; Taylor TD; Suzuki Y; Thongnoppakhun W; Limwongse C; Lertrit P; Suriyaphol P; Trinavarat A; Atchaneeyasakul LO
Invest Ophthalmol Vis Sci; 2014 Apr; 55(4):2259-68. PubMed ID: 24618324
[TBL] [Abstract][Full Text] [Related]
2. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC; Florijn RJ; ten Brink JB; Loves W; Meire F; van Schooneveld MJ; de Jong PT; Bergen AA
J Med Genet; 2005 Nov; 42(11):e67. PubMed ID: 16272259
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Yzer S; Leroy BP; De Baere E; de Ravel TJ; Zonneveld MN; Voesenek K; Kellner U; Ciriano JP; de Faber JT; Rohrschneider K; Roepman R; den Hollander AI; Cruysberg JR; Meire F; Casteels I; van Moll-Ramirez NG; Allikmets R; van den Born LI; Cremers FP
Invest Ophthalmol Vis Sci; 2006 Mar; 47(3):1167-76. PubMed ID: 16505055
[TBL] [Abstract][Full Text] [Related]
5. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Lazar CH; Mutsuddi M; Kimchi A; Zelinger L; Mizrahi-Meissonnier L; Marks-Ohana D; Boleda A; Ratnapriya R; Sharon D; Swaroop A; Banin E
Invest Ophthalmol Vis Sci; 2014 Dec; 56(1):420-30. PubMed ID: 25515582
[TBL] [Abstract][Full Text] [Related]
6. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
Audo I; Mohand-Saïd S; Dhaenens CM; Germain A; Orhan E; Antonio A; Hamel C; Sahel JA; Bhattacharya SS; Zeitz C
Hum Mutat; 2012 Jan; 33(1):73-80. PubMed ID: 22052604
[TBL] [Abstract][Full Text] [Related]
7. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
[TBL] [Abstract][Full Text] [Related]
8. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ
Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
[TBL] [Abstract][Full Text] [Related]
9. Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Pierrottet CO; Zuntini M; Digiuni M; Bazzanella I; Ferri P; Paderni R; Rossetti LM; Cecchin S; Orzalesi N; Bertelli M
Genet Mol Res; 2014 Oct; 13(4):8815-33. PubMed ID: 25366773
[TBL] [Abstract][Full Text] [Related]
10. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR; Crowe P; Muszynska D; O'Prey D; O'Neill J; Alexander S; Willoughby CE; McKay GJ; Silvestri G; Simpson DA
Ophthalmology; 2010 Nov; 117(11):2169-77.e3. PubMed ID: 20591486
[TBL] [Abstract][Full Text] [Related]
11. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Shevach E; Harel A; Storm T; Sagi M; Eli D; Merin S; Banin E; Sharon D
Invest Ophthalmol Vis Sci; 2014 Feb; 55(2):1149-60. PubMed ID: 24474277
[TBL] [Abstract][Full Text] [Related]
12. Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.
Shen T; Guan L; Li S; Zhang J; Xiao X; Jiang H; Yang J; Guo X; Wang J; Zhang Q
Mol Med Rep; 2015 Mar; 11(3):1827-32. PubMed ID: 25377065
[TBL] [Abstract][Full Text] [Related]
13. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Pierrache LHM; Kimchi A; Ratnapriya R; Roberts L; Astuti GDN; Obolensky A; Beryozkin A; Tjon-Fo-Sang MJH; Schuil J; Klaver CCW; Bongers EMHF; Haer-Wigman L; Schalij N; Breuning MH; Fischer GM; Banin E; Ramesar RS; Swaroop A; van den Born LI; Sharon D; Cremers FPM
Ophthalmology; 2017 Jul; 124(7):992-1003. PubMed ID: 28412069
[TBL] [Abstract][Full Text] [Related]
14. Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Sun Y; Li W; Li JK; Wang ZS; Bai JY; Xu L; Xing B; Yang W; Wang ZW; Wang LS; He W; Chen F
Mol Genet Genomic Med; 2020 Apr; 8(4):e1184. PubMed ID: 32100970
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. EYS is a major gene for rod-cone dystrophies in France.
Audo I; Sahel JA; Mohand-Saïd S; Lancelot ME; Antonio A; Moskova-Doumanova V; Nandrot EF; Doumanov J; Barragan I; Antinolo G; Bhattacharya SS; Zeitz C
Hum Mutat; 2010 May; 31(5):E1406-35. PubMed ID: 20333770
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
Chen LJ; Lai TY; Tam PO; Chiang SW; Zhang X; Lam S; Lai RY; Lam DS; Pang CP
Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2236-42. PubMed ID: 19933189
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y; Guan L; Xiao X; Zhang J; Li S; Jiang H; Jia X; Yang J; Guo X; Yin Y; Wang J; Zhang Q
Mol Vis; 2015; 21():477-86. PubMed ID: 25999675
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]