322 related articles for article (PubMed ID: 32050993)
21. Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.
Maeda A; Yoshida A; Kawai K; Arai Y; Akiba R; Inaba A; Takagi S; Fujiki R; Hirami Y; Kurimoto Y; Ohara O; Takahashi M
Jpn J Ophthalmol; 2018 Jul; 62(4):451-457. PubMed ID: 29785639
[TBL] [Abstract][Full Text] [Related]
22. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.
Shastry BS
Int J Mol Med; 2008 Jun; 21(6):715-20. PubMed ID: 18506364
[TBL] [Abstract][Full Text] [Related]
23. Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.
Evans DR; Green JS; Johnson GJ; Schwartzentruber J; Majewski J; Beaulieu CL; Qin W; Marshall CR; Paton TA; Roslin NM; Paterson AD; Fahiminiya S; French J; Boycott KM; Woods MO;
Invest Ophthalmol Vis Sci; 2017 Mar; 58(3):1736-1742. PubMed ID: 28324114
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Gene panel sequencing in Brazilian patients with retinitis pigmentosa.
Costa KA; Salles MV; Whitebirch C; Chiang J; Sallum JMF
Int J Retina Vitreous; 2017; 3():33. PubMed ID: 28912962
[TBL] [Abstract][Full Text] [Related]
27. A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.
Wang F; Wang Y; Zhang B; Zhao L; Lyubasyuk V; Wang K; Xu M; Li Y; Wu F; Wen C; Bernstein PS; Lin D; Zhu S; Wang H; Zhang K; Chen R
Invest Ophthalmol Vis Sci; 2014 Oct; 55(11):7159-64. PubMed ID: 25316723
[TBL] [Abstract][Full Text] [Related]
28. Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.
Anasagasti A; Barandika O; Irigoyen C; Benitez BA; Cooper B; Cruchaga C; López de Munain A; Ruiz-Ederra J
Exp Eye Res; 2013 Nov; 116():386-394. PubMed ID: 24416769
[TBL] [Abstract][Full Text] [Related]
29. Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska AM; van den Born LI; van Hagen PM; Stoffels M; Neveling K; Henkes A; Kipping-Geertsema M; Hoefsloot LH; Hoyng CB; Simon A; den Hollander AI; Cremers FPM; Collin RWJ
Ophthalmology; 2013 Dec; 120(12):2697-2705. PubMed ID: 24084495
[TBL] [Abstract][Full Text] [Related]
30. Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.
Ng TK; Cao Y; Yuan XL; Chen S; Xu Y; Chen SL; Zheng Y; Chen H
Eye (Lond); 2022 Apr; 36(4):749-759. PubMed ID: 33846575
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Perez-Carro R; Corton M; Sánchez-Navarro I; Zurita O; Sanchez-Bolivar N; Sánchez-Alcudia R; Lelieveld SH; Aller E; Lopez-Martinez MA; López-Molina MI; Fernandez-San Jose P; Blanco-Kelly F; Riveiro-Alvarez R; Gilissen C; Millan JM; Avila-Fernandez A; Ayuso C
Sci Rep; 2016 Jan; 6():19531. PubMed ID: 26806561
[TBL] [Abstract][Full Text] [Related]
33. A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.
Jinda W; Poungvarin N; Taylor TD; Suzuki Y; Thongnoppakhun W; Limwongse C; Lertrit P; Suriyaphol P; Atchaneeyasakul LO
Mol Vis; 2016; 22():342-51. PubMed ID: 27122965
[TBL] [Abstract][Full Text] [Related]
34. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.
Bowne SJ; Sullivan LS; Koboldt DC; Ding L; Fulton R; Abbott RM; Sodergren EJ; Birch DG; Wheaton DH; Heckenlively JR; Liu Q; Pierce EA; Weinstock GM; Daiger SP
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):494-503. PubMed ID: 20861475
[TBL] [Abstract][Full Text] [Related]
35. Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.
Kuehlewein L; Schöls L; Llavona P; Grimm A; Biskup S; Zrenner E; Kohl S
Graefes Arch Clin Exp Ophthalmol; 2019 Mar; 257(3):629-638. PubMed ID: 30656474
[TBL] [Abstract][Full Text] [Related]
36. Novel homozygous mutations in the transcription factor
El-Asrag ME; Corton M; McKibbin M; Avila-Fernandez A; Mohamed MD; Blanco-Kelly F; Toomes C; Inglehearn CF; Ayuso C; Ali M
Mol Vis; 2022; 28():48-56. PubMed ID: 35693422
[TBL] [Abstract][Full Text] [Related]
37. Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
Borràs E; de Sousa Dias M; Hernan I; Pascual B; Mañé B; Gamundi MJ; Delás B; Carballo M
Clin Genet; 2013 Nov; 84(5):441-52. PubMed ID: 23534816
[TBL] [Abstract][Full Text] [Related]
38. Whole genome sequencing for
Reurink J; Weisschuh N; Garanto A; Dockery A; van den Born LI; Fajardy I; Haer-Wigman L; Kohl S; Wissinger B; Farrar GJ; Ben-Yosef T; Pfiffner FK; Berger W; Weener ME; Dudakova L; Liskova P; Sharon D; Salameh M; Offenheim A; Heon E; Girotto G; Gasparini P; Morgan A; Bergen AA; Ten Brink JB; Klaver CCW; Tranebjærg L; Rendtorff ND; Vermeer S; Smits JJ; Pennings RJE; Aben M; Oostrik J; Astuti GDN; Corominas Galbany J; Kroes HY; Phan M; van Zelst-Stams WAG; Thiadens AAHJ; Verheij JBGM; van Schooneveld MJ; de Bruijn SE; Li CHZ; Hoyng CB; Gilissen C; Vissers LELM; Cremers FPM; Kremer H; van Wijk E; Roosing S
HGG Adv; 2023 Apr; 4(2):100181. PubMed ID: 36785559
[TBL] [Abstract][Full Text] [Related]
39. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
Sanchez Tocino H; Diez Montero C; Villanueva Gómez A; Lobo Valentin R; Montero-Moreno JA
Ophthalmic Genet; 2019 Apr; 40(2):170-176. PubMed ID: 31033374
[TBL] [Abstract][Full Text] [Related]
40. Exome sequencing identified five novel
Jung S; Park YC; Lee D; Kim S; Kim SM; Kim Y; Lee D; Hyun J; Koh I; Lee JY
Ophthalmic Genet; 2023 Apr; 44(2):163-170. PubMed ID: 36314366
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
