BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 35346118)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7.
    Ordoñez-Labastida V; Chacon-Camacho OF; Lopez-Rodriguez VR; Zenteno JC
    Mol Vis; 2023; 29():31-38. PubMed ID: 37287646
    [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. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
    Pater JA; Green J; O'Rielly DD; Griffin A; Squires J; Burt T; Fernandez S; Fernandez B; Houston J; Zhou J; Roslin NM; Young TL
    BMC Med Genet; 2019 May; 20(1):68. PubMed ID: 31046701
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
    Xing D; Zhou H; Yu R; Wang L; Hu L; Li Z; Li X
    BMC Ophthalmol; 2020 Dec; 20(1):485. PubMed ID: 33302902
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 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]
    of 8.