BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

315 related articles for article (PubMed ID: 27318125)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 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. Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.
    Pennings RJ; Huygen PL; Weston MD; van Aarem A; Wagenaar M; Kimberling WJ; Cremers CW
    Otol Neurotol; 2003 Jan; 24(1):58-63. PubMed ID: 12544030
    [TBL] [Abstract][Full Text] [Related]  

  • 7.
    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]  

  • 8. 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]  

  • 9. Hearing impairment related to age in Usher syndrome types 1B and 2A.
    Wagenaar M; van Aarem A; Huygen P; Pieke-Dahl S; Kimberling W; Cremers C
    Arch Otolaryngol Head Neck Surg; 1999 Apr; 125(4):441-5. PubMed ID: 10208682
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. [Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].
    López G; Gelvez NY; Tamayo M
    Biomedica; 2011 Mar; 31(1):82-90. PubMed ID: 22159486
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.
    Pennings RJ; Huygen PL; Orten DJ; Wagenaar M; van Aarem A; Kremer H; Kimberling WJ; Cremers CW; Deutman AF
    Acta Ophthalmol Scand; 2004 Apr; 82(2):131-9. PubMed ID: 15043528
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.
    Weegerink NJ; Schraders M; Leijendeckers J; Slieker K; Huygen PL; Hoefsloot L; Oostrik J; Pennings RJ; Simon A; Snik A; Kremer H; Kunst HP
    Hear Res; 2011 Dec; 282(1-2):243-51. PubMed ID: 21810457
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
    Nagase Y; Kurata K; Hosono K; Suto K; Hikoya A; Nakanishi H; Mizuta K; Mineta H; Minoshima S; Hotta Y
    Semin Ophthalmol; 2018; 33(4):560-565. PubMed ID: 28678594
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
    Verver EJ; Topsakal V; Kunst HP; Huygen PL; Heller PG; Pujol-Moix N; Savoia A; Benazzo M; Fierro T; Grolman W; Gresele P; Pecci A
    Ear Hear; 2016; 37(1):112-20. PubMed ID: 26226608
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.