240 related articles for article (PubMed ID: 33498833)
1. Peripheral Anomalies in USH2A Cause Central Auditory Anomalies in a Mouse Model of Usher Syndrome and CAPD.
Perrino PA; Newbury DF; Fitch RH
Genes (Basel); 2021 Jan; 12(2):. PubMed ID: 33498833
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Usherin defects lead to early-onset retinal dysfunction in zebrafish.
Dona M; Slijkerman R; Lerner K; Broekman S; Wegner J; Howat T; Peters T; Hetterschijt L; Boon N; de Vrieze E; Sorusch N; Wolfrum U; Kremer H; Neuhauss S; Zang J; Kamermans M; Westerfield M; Phillips J; van Wijk E
Exp Eye Res; 2018 Aug; 173():148-159. PubMed ID: 29777677
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases.
Pendse ND; Lamas V; Pawlyk BS; Maeder ML; Chen ZY; Pierce EA; Liu Q
Adv Exp Med Biol; 2019; 1185():91-96. PubMed ID: 31884594
[TBL] [Abstract][Full Text] [Related]
10. A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.
Fu J; Shen S; Cheng J; Lv H; Fu J
J Cell Mol Med; 2020 Jul; 24(14):7743-7750. PubMed ID: 32449591
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
Auslender N; Bandah D; Rizel L; Behar DM; Shohat M; Banin E; Allon-Shalev S; Sharony R; Sharon D; Ben-Yosef T
Genet Test; 2008 Jun; 12(2):289-94. PubMed ID: 18452394
[TBL] [Abstract][Full Text] [Related]
13. Pathogenesis and Treatment of Usher Syndrome Type IIA.
Zaw K; Carvalho LS; Aung-Htut MT; Fletcher S; Wilton SD; Chen FK; McLenachan S
Asia Pac J Ophthalmol (Phila); 2022 Jul-Aug 01; 11(4):369-379. PubMed ID: 36041150
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.
He C; Liu X; Zhong Z; Chen J
BMC Ophthalmol; 2020 Feb; 20(1):70. PubMed ID: 32093671
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]