BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

62 related articles for article (PubMed ID: 22681893)

  • 1. Extended mutation spectrum of Usher syndrome in Finland.
    Västinsalo H; Jalkanen R; Bergmann C; Neuhaus C; Kleemola L; Jauhola L; Bolz HJ; Sankila EM
    Acta Ophthalmol; 2013 Jun; 91(4):325-34. PubMed ID: 22681893
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
    Ben-Rebeh I; Grati M; Bonnet C; Bouassida W; Hadjamor I; Ayadi H; Ghorbel A; Petit C; Masmoudi S
    Mol Vis; 2016; 22():827-35. PubMed ID: 27440999
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
    García-García G; Aparisi MJ; Rodrigo R; Sequedo MD; Espinós C; Rosell J; Olea JL; Mendívil MP; Ramos-Arroyo MA; Ayuso C; Jaijo T; Aller E; Millán JM
    Mol Vis; 2012; 18():3070-8. PubMed ID: 23304067
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.
    Ouarhache M; Kettani O; Fizazi KE; Bouguenouch L; Ouldim K
    Mol Biol Rep; 2024 May; 51(1):683. PubMed ID: 38796585
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Targeted exon sequencing in Usher syndrome type I.
    Bujakowska KM; Consugar M; Place E; Harper S; Lena J; Taub DG; White J; Navarro-Gomez D; Weigel DiFranco C; Farkas MH; Gai X; Berson EL; Pierce EA
    Invest Ophthalmol Vis Sci; 2014 Dec; 55(12):8488-96. PubMed ID: 25468891
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.
    Tebbe L; Mwoyosvi ML; Crane R; Makia MS; Kakakhel M; Cosgrove D; Al-Ubaidi MR; Naash MI
    Nat Commun; 2023 Feb; 14(1):972. PubMed ID: 36810733
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
    Wafa TT; Faridi R; King KA; Zalewski C; Yousaf R; Schultz JM; Morell RJ; Muskett J; Turriff A; Tsilou E; Griffith AJ; Friedman TB; Zein WM; Brewer CC
    Clin Genet; 2021 Feb; 99(2):226-235. PubMed ID: 33089500
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models.
    Khan SH; Javed MR; Qasim M; Shahzadi S; Jalil A; Rehman SU
    Bioinformation; 2014; 10(8):491-5. PubMed ID: 25258483
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Antisense Oligonucleotide- and CRISPR-Cas9-Mediated Rescue of mRNA Splicing for a Deep Intronic CLRN1 Mutation.
    Panagiotopoulos AL; Karguth N; Pavlou M; Böhm S; Gasparoni G; Walter J; Graf A; Blum H; Biel M; Riedmayr LM; Becirovic E
    Mol Ther Nucleic Acids; 2020 Sep; 21():1050-1061. PubMed ID: 32841912
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Usher's Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation.
    Magliulo G; Iannella G; Gagliardi S; Iozzo N; Plateroti R; Mariottini A; Torricelli F
    Otolaryngol Head Neck Surg; 2017 Nov; 157(5):853-860. PubMed ID: 28653555
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
    Carss KJ; Arno G; Erwood M; Stephens J; Sanchis-Juan A; Hull S; Megy K; Grozeva D; Dewhurst E; Malka S; Plagnol V; Penkett C; Stirrups K; Rizzo R; Wright G; Josifova D; Bitner-Glindzicz M; Scott RH; Clement E; Allen L; Armstrong R; Brady AF; Carmichael J; Chitre M; Henderson RHH; Hurst J; MacLaren RE; Murphy E; Paterson J; Rosser E; Thompson DA; Wakeling E; Ouwehand WH; Michaelides M; Moore AT; ; Webster AR; Raymond FL
    Am J Hum Genet; 2017 Jan; 100(1):75-90. PubMed ID: 28041643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A systematic approach to assessing the clinical significance of genetic variants.
    Duzkale H; Shen J; McLaughlin H; Alfares A; Kelly MA; Pugh TJ; Funke BH; Rehm HL; Lebo MS
    Clin Genet; 2013 Nov; 84(5):453-63. PubMed ID: 24033266
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
    Wang J; Zhang VW; Feng Y; Tian X; Li FY; Truong C; Wang G; Chiang PW; Lewis RA; Wong LJ
    Invest Ophthalmol Vis Sci; 2014 Aug; 55(10):6213-23. PubMed ID: 25097241
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
    Yoshimura H; Iwasaki S; Nishio SY; Kumakawa K; Tono T; Kobayashi Y; Sato H; Nagai K; Ishikawa K; Ikezono T; Naito Y; Fukushima K; Oshikawa C; Kimitsuki T; Nakanishi H; Usami S
    PLoS One; 2014; 9(3):e90688. PubMed ID: 24618850
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
    Ganapathy A; Pandey N; Srisailapathy CR; Jalvi R; Malhotra V; Venkatappa M; Chatterjee A; Sharma M; Santhanam R; Chadha S; Ramesh A; Agarwal AK; Rangasayee RR; Anand A
    PLoS One; 2014; 9(1):e84773. PubMed ID: 24416283
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
    Glöckle N; Kohl S; Mohr J; Scheurenbrand T; Sprecher A; Weisschuh N; Bernd A; Rudolph G; Schubach M; Poloschek C; Zrenner E; Biskup S; Berger W; Wissinger B; Neidhardt J
    Eur J Hum Genet; 2014 Jan; 22(1):99-104. PubMed ID: 23591405
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
    Alapati A; Goetz K; Suk J; Navani M; Al-Tarouti A; Jayasundera T; Tumminia SJ; Lee P; Ayyagari R
    Invest Ophthalmol Vis Sci; 2014 Jul; 55(9):5510-21. PubMed ID: 25082885
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Experience of targeted Usher exome sequencing as a clinical test.
    Besnard T; García-García G; Baux D; Vaché C; Faugère V; Larrieu L; Léonard S; Millan JM; Malcolm S; Claustres M; Roux AF
    Mol Genet Genomic Med; 2014 Jan; 2(1):30-43. PubMed ID: 24498627
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.