138 related articles for article (PubMed ID: 32176120)
1. Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP; Lenassi E; Ellingford JM; Sergouniotis PI; Ramsden SC; Bruce IA; Black GCM
Otol Neurotol; 2020 Apr; 41(4):431-437. PubMed ID: 32176120
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
Meng X; Liu X; Li Y; Guo T; Yang L
Acta Ophthalmol; 2021 Jun; 99(4):e447-e460. PubMed ID: 33124170
[TBL] [Abstract][Full Text] [Related]
4. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Pierrache LH; Hartel BP; van Wijk E; Meester-Smoor MA; Cremers FP; de Baere E; de Zaeytijd J; van Schooneveld MJ; Cremers CW; Dagnelie G; Hoyng CB; Bergen AA; Leroy BP; Pennings RJ; van den Born LI; Klaver CC
Ophthalmology; 2016 May; 123(5):1151-60. PubMed ID: 26927203
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB; Liang W; Duncan JL; Brewer CC; Audo I; Ayala AR; Branham K; Cheetham JK; Daiger SP; Durham TA; Guan B; Heon E; Hoyng CB; Iannaccone A; Kay CN; Michaelides M; Pennesi ME; Singh MS; Ullah E;
Hum Mutat; 2022 May; 43(5):613-624. PubMed ID: 35266249
[TBL] [Abstract][Full Text] [Related]
7. Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.
Nam DW; Song YK; Kim JH; Lee EK; Park KH; Cha J; Choi BY; Lee JH; Oh SH; Jo DH; Lee SY
Sci Rep; 2023 Nov; 13(1):20239. PubMed ID: 37981655
[TBL] [Abstract][Full Text] [Related]
8.
Zhu T; Chen DF; Wang L; Wu S; Wei X; Li H; Jin ZB; Sui R
Br J Ophthalmol; 2021 May; 105(5):694-703. PubMed ID: 32675063
[TBL] [Abstract][Full Text] [Related]
9. A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Hartel BP; Löfgren M; Huygen PL; Guchelaar I; Lo-A-Njoe Kort N; Sadeghi AM; van Wijk E; Tranebjærg L; Kremer H; Kimberling WJ; Cremers CW; Möller C; Pennings RJ
Hear Res; 2016 Sep; 339():60-8. PubMed ID: 27318125
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in
Inaba A; Maeda A; Yoshida A; Kawai K; Hirami Y; Kurimoto Y; Kosugi S; Takahashi M
Int J Mol Sci; 2020 Oct; 21(21):. PubMed ID: 33105608
[No Abstract] [Full Text] [Related]
12. 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]
13. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
Xu W; Dai H; Lu T; Zhang X; Dong B; Li Y
Mol Vis; 2011; 17():1537-52. PubMed ID: 21686329
[TBL] [Abstract][Full Text] [Related]
14. Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
Steele-Stallard HB; Le Quesne Stabej P; Lenassi E; Luxon LM; Claustres M; Roux AF; Webster AR; Bitner-Glindzicz M
Orphanet J Rare Dis; 2013 Aug; 8():122. PubMed ID: 23924366
[TBL] [Abstract][Full Text] [Related]
15. Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
Sengillo JD; Cabral T; Schuerch K; Duong J; Lee W; Boudreault K; Xu Y; Justus S; Sparrow JR; Mahajan VB; Tsang SH
Sci Rep; 2017 Sep; 7(1):11170. PubMed ID: 28894305
[TBL] [Abstract][Full Text] [Related]
16. Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.
Qu LH; Jin X; Long YL; Ren JY; Weng CH; Xu HW; Liu Y; Meng XH; Li SY; Yin ZQ
Biosci Rep; 2020 Jan; 40(1):. PubMed ID: 31904091
[TBL] [Abstract][Full Text] [Related]
17. Expressivity of hearing loss in cases with Usher syndrome type IIA.
Sadeghi AM; Cohn ES; Kimberling WJ; Halvarsson G; Möller C
Int J Audiol; 2013 Dec; 52(12):832-7. PubMed ID: 24160897
[TBL] [Abstract][Full Text] [Related]
18. Early audiological phenotype in patients with mutations in the USH2A gene.
Markova TG; Lalayants MR; Alekseeva NN; Ryzhkova OP; Shatokhina OL; Galeeva NM; Bliznetz EA; Weener ME; Belov OA; Chibisova SS; Polyakov AV; Tavartkiladze GA
Int J Pediatr Otorhinolaryngol; 2022 Jun; 157():111140. PubMed ID: 35452909
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Colombo L; Maltese PE; Romano D; Fogagnolo P; Castori M; Marceddu G; Cristofoli F; Percio M; Piteková B; Modarelli AM; Bertelli M; Rossetti L
Ophthalmic Res; 2022; 65(2):180-195. PubMed ID: 34781295
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]