248 related articles for article (PubMed ID: 32188678)
21. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
Zhu X; Li X; Tian W; Yang Y; Sun K; Li S; Zhu X
Mol Med Rep; 2020 Jul; 22(1):193-200. PubMed ID: 32319668
[TBL] [Abstract][Full Text] [Related]
22. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
Oishi M; Oishi A; Gotoh N; Ogino K; Higasa K; Iida K; Makiyama Y; Morooka S; Matsuda F; Yoshimura N
Invest Ophthalmol Vis Sci; 2014 Oct; 55(11):7369-75. PubMed ID: 25324289
[TBL] [Abstract][Full Text] [Related]
23. CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
Testa F; Melillo P; Bonnet C; Marcelli V; de Benedictis A; Colucci R; Gallo B; Kurtenbach A; Rossi S; Marciano E; Auricchio A; Petit C; Zrenner E; Simonelli F
Retina; 2017 Aug; 37(8):1581-1590. PubMed ID: 27828912
[TBL] [Abstract][Full Text] [Related]
24. Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.
Fu J; Cheng J; Zhou Q; Khan MA; Duan C; Peng J; Lv H; Fu J
Mol Med Rep; 2020 Oct; 22(4):3464-3472. PubMed ID: 32945453
[TBL] [Abstract][Full Text] [Related]
25. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
Sandberg MA; Rosner B; Weigel-DiFranco C; McGee TL; Dryja TP; Berson EL
Invest Ophthalmol Vis Sci; 2008 Dec; 49(12):5532-9. PubMed ID: 18641288
[TBL] [Abstract][Full Text] [Related]
26. Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone A; Brewer CC; Cheng P; Duncan JL; Maguire MG; Audo I; Ayala AR; Bernstein PS; Bidelman GM; Cheetham JK; Doty RL; Durham TA; Hufnagel RB; Myers MH; Stingl K; Zein WM;
Am J Med Genet A; 2021 Dec; 185(12):3717-3727. PubMed ID: 34331386
[TBL] [Abstract][Full Text] [Related]
27. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL; Seyedahmadi BJ; Sweeney MO; Dryja TP; Berson EL
J Med Genet; 2010 Jul; 47(7):499-506. PubMed ID: 20507924
[TBL] [Abstract][Full Text] [Related]
28. Genetic profile of syndromic retinitis pigmentosa in Portugal.
Cortinhal T; Santos C; Vaz-Pereira S; Marta A; Duarte L; Miranda V; Costa J; Sousa AB; Peter VG; Kaminska K; Rivolta C; Carvalho AL; Saraiva J; Soares CA; Silva R; Murta J; Santos LC; Marques JP
Graefes Arch Clin Exp Ophthalmol; 2024 Jun; 262(6):1883-1897. PubMed ID: 38189974
[TBL] [Abstract][Full Text] [Related]
29. USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
Ahmed AN; Tahir R; Khan N; Ahmad M; Dawood M; Basit A; Yasin M; Nowshid M; Marwan M; Sultan K; Saleha S
BMC Ophthalmol; 2021 Apr; 21(1):191. PubMed ID: 33926394
[TBL] [Abstract][Full Text] [Related]
30. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E; Vincent A; Li Z; Saihan Z; Coffey AJ; Steele-Stallard HB; Moore AT; Steel KP; Luxon LM; Héon E; Bitner-Glindzicz M; Webster AR
Eur J Hum Genet; 2015 Oct; 23(10):1318-27. PubMed ID: 25649381
[TBL] [Abstract][Full Text] [Related]
31. Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
Yan D; Ouyang X; Patterson DM; Du LL; Jacobson SG; Liu XZ
J Hum Genet; 2009 Dec; 54(12):732-8. PubMed ID: 19881469
[TBL] [Abstract][Full Text] [Related]
32. Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM; Al-Khuzaei S; Shah M; Broadgate S; Shanks M; Kamath A; Yu J; Jolly JK; MacLaren RE; Clouston P; Halford S; Downes SM
Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011334
[TBL] [Abstract][Full Text] [Related]
33. Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
Nakanishi H; Ohtsubo M; Iwasaki S; Hotta Y; Mizuta K; Mineta H; Minoshima S
Clin Genet; 2009 Oct; 76(4):383-91. PubMed ID: 19737284
[TBL] [Abstract][Full Text] [Related]
34. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Méndez-Vidal C; González-Del Pozo M; Vela-Boza A; Santoyo-López J; López-Domingo FJ; Vázquez-Marouschek C; Dopazo J; Borrego S; Antiñolo G
Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
[TBL] [Abstract][Full Text] [Related]
35. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y; Akiyama M; Nishiguchi KM; Momozawa Y; Kamatani Y; Takata S; Inai C; Iwasaki Y; Kumano M; Murakami Y; Omodaka K; Abe T; Komori S; Gao D; Hirakata T; Kurata K; Hosono K; Ueno S; Hotta Y; Murakami A; Terasaki H; Wada Y; Nakazawa T; Ishibashi T; Ikeda Y; Kubo M; Sonoda KH
J Med Genet; 2019 Oct; 56(10):662-670. PubMed ID: 31213501
[TBL] [Abstract][Full Text] [Related]
36. Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
Duncan JL; Liang W; Maguire MG; Audo I; Ayala AR; Birch DG; Carroll J; Cheetham JK; Esposti SD; Durham TA; Erker L; Farsiu S; Ferris FL; Heon E; Hufnagel RB; Iannaccone A; Jaffe GJ; Kay CN; Michaelides M; Pennesi ME; Sahel JA;
Am J Ophthalmol; 2020 Nov; 219():87-100. PubMed ID: 32446738
[TBL] [Abstract][Full Text] [Related]
37. Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
Eandi CM; Dallorto L; Spinetta R; Micieli MP; Vanzetti M; Mariottini A; Passerini I; Torricelli F; Alovisi C; Marchese C
Sci Rep; 2017 Nov; 7(1):15681. PubMed ID: 29142287
[TBL] [Abstract][Full Text] [Related]
38. Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M; Dubis AM; de Vrieze E; Tracey-White D; Mitsios A; Hayes M; Broekman S; Baxendale S; Utoomprurkporn N; Bamiou D; Bitner-Glindzicz M; Webster AR; Van Wijk E; Moosajee M
Hum Mol Genet; 2020 Jul; 29(11):1882-1899. PubMed ID: 31998945
[TBL] [Abstract][Full Text] [Related]
39. Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.
Blanco-Kelly F; Jaijo T; Aller E; Avila-Fernandez A; López-Molina MI; Giménez A; García-Sandoval B; Millán JM; Ayuso C
JAMA Ophthalmol; 2015 Feb; 133(2):157-64. PubMed ID: 25375654
[TBL] [Abstract][Full Text] [Related]
40. Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH; Tham YC; Tan TE; Bylstra Y; Lim WK; Jain K; Chan CM; Mathur R; Cheung CMG; Fenner BJ
Ophthalmic Genet; 2023 Apr; 44(2):109-118. PubMed ID: 36856324
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
