1220 related articles for article (PubMed ID: 26927203)
21. Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Pérez-Carro R; Blanco-Kelly F; Galbis-Martínez L; García-García G; Aller E; García-Sandoval B; Mínguez P; Corton M; Mahíllo-Fernández I; Martín-Mérida I; Avila-Fernández A; Millán JM; Ayuso C
PLoS One; 2018; 13(6):e0199048. PubMed ID: 29912909
[TBL] [Abstract][Full Text] [Related]
22. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
Aller E; Nájera C; Millán JM; Oltra JS; Pérez-Garrigues H; Vilela C; Navea A; Beneyto M
Eur J Hum Genet; 2004 May; 12(5):407-10. PubMed ID: 14970843
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23.
Branson SV; McClintic JI; Stamper TH; Haldeman-Englert CR; John VJ
Ophthalmic Surg Lasers Imaging Retina; 2016 Feb; 47(2):183-6. PubMed ID: 26878454
[TBL] [Abstract][Full Text] [Related]
25. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B; Brox V; Tranebjaerg L; Rosenberg T; Sadeghi AM; Möller C; Nilssen O
Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273898
[TBL] [Abstract][Full Text] [Related]
26. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I; Scholl HP; Charbel Issa P; Becirovic E; Lamprecht J; Jurklies B; Millán JM; Aller E; Mitter D; Bolz H
Hum Genet; 2007 Apr; 121(2):203-11. PubMed ID: 17171570
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
Liu X; Tang Z; Li C; Yang K; Gan G; Zhang Z; Liu J; Jiang F; Wang Q; Liu M
Mol Vis; 2010 Mar; 16():454-61. PubMed ID: 20309401
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. 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]
32. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Talib M; van Schooneveld MJ; van Genderen MM; Wijnholds J; Florijn RJ; Ten Brink JB; Schalij-Delfos NE; Dagnelie G; Cremers FPM; Wolterbeek R; Fiocco M; Thiadens AA; Hoyng CB; Klaver CC; Bergen AA; Boon CJF
Ophthalmology; 2017 Jun; 124(6):884-895. PubMed ID: 28341475
[TBL] [Abstract][Full Text] [Related]
33. Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients.
Ng TK; Tang W; Cao Y; Chen S; Zheng Y; Xiao X; Chen H
Sci Rep; 2019 Apr; 9(1):5628. PubMed ID: 30948794
[TBL] [Abstract][Full Text] [Related]
34. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi KM; Avila-Fernandez A; van Huet RA; Corton M; Pérez-Carro R; Martín-Garrido E; López-Molina MI; Blanco-Kelly F; Hoefsloot LH; van Zelst-Stams WA; García-Ruiz PJ; Del Val J; Di Gioia SA; Klevering BJ; van de Warrenburg BP; Vazquez C; Cremers FP; García-Sandoval B; Hoyng CB; Collin RW; Rivolta C; Ayuso C
Ophthalmology; 2014 Aug; 121(8):1620-7. PubMed ID: 24697911
[TBL] [Abstract][Full Text] [Related]
35. Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.
Chen X; Sheng X; Liu X; Li H; Liu Y; Rong W; Ha S; Liu W; Kang X; Zhao K; Zhao C
PLoS One; 2014; 9(8):e105439. PubMed ID: 25133613
[TBL] [Abstract][Full Text] [Related]
36. Characteristics of Retinitis Pigmentosa Associated with
Fakin A; Bonnet C; Kurtenbach A; Mohand-Said S; Zobor D; Stingl K; Testa F; Simonelli F; Sahel JA; Audo I; Zrenner E; Hawlina M; Petit C
Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638692
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Young SL; Stanton CM; Livesey BJ; Marsh JA; Cackett PD
BMC Ophthalmol; 2022 Mar; 22(1):140. PubMed ID: 35346118
[TBL] [Abstract][Full Text] [Related]
39. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Herrera W; Aleman TS; Cideciyan AV; Roman AJ; Banin E; Ben-Yosef T; Gardner LM; Sumaroka A; Windsor EA; Schwartz SB; Stone EM; Liu XZ; Kimberling WJ; Jacobson SG
Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2651-60. PubMed ID: 18281613
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]