BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 27957503)

  • 1. Usher syndrome in Denmark: mutation spectrum and some clinical observations.
    Dad S; Rendtorff ND; Tranebjærg L; Grønskov K; Karstensen HG; Brox V; Nilssen Ø; Roux AF; Rosenberg T; Jensen H; Møller LB
    Mol Genet Genomic Med; 2016 Sep; 4(5):527-539. PubMed ID: 27957503
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
    Reiners J; Nagel-Wolfrum K; Jürgens K; Märker T; Wolfrum U
    Exp Eye Res; 2006 Jul; 83(1):97-119. PubMed ID: 16545802
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
    Ivanova ME; Trubilin VN; Atarshchikov DS; Demchinsky AM; Strelnikov VV; Tanas AS; Orlova OM; Machalov AS; Overchenko KV; Markova TV; Golenkova DM; Anoshkin KI; Volodin IV; Zaletaev DV; Pulin AA; Nadelyaeva II; Kalinkin AI; Barh D
    Ophthalmic Genet; 2018 Dec; 39(6):706-713. PubMed ID: 30358468
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
    Khalaileh A; Abu-Diab A; Ben-Yosef T; Raas-Rothschild A; Lerer I; Alswaiti Y; Chowers I; Banin E; Sharon D; Khateb S
    Invest Ophthalmol Vis Sci; 2018 Feb; 59(2):1095-1104. PubMed ID: 29490346
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Partial USH2A deletions contribute to Usher syndrome in Denmark.
    Dad S; Rendtorff ND; Kann E; Albrechtsen A; Mehrjouy MM; Bak M; Tommerup N; Tranebjærg L; Rosenberg T; Jensen H; Møller LB
    Eur J Hum Genet; 2015 Dec; 23(12):1646-51. PubMed ID: 25804404
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a novel MYO7A mutation in Usher syndrome type 1.
    Cheng L; Yu H; Jiang Y; He J; Pu S; Li X; Zhang L
    Oncotarget; 2018 Jan; 9(2):2295-2303. PubMed ID: 29416772
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The usher syndromes.
    Keats BJ; Corey DP
    Am J Med Genet; 1999 Sep; 89(3):158-66. PubMed ID: 10704190
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations in MYO7A and USH2A in Usher syndrome.
    Maubaret C; Griffoin JM; Arnaud B; Hamel C
    Ophthalmic Genet; 2005 Mar; 26(1):25-9. PubMed ID: 15823922
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.
    Reiners J; van Wijk E; Märker T; Zimmermann U; Jürgens K; te Brinke H; Overlack N; Roepman R; Knipper M; Kremer H; Wolfrum U
    Hum Mol Genet; 2005 Dec; 14(24):3933-43. PubMed ID: 16301216
    [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. Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
    Sorusch N; Bauß K; Plutniok J; Samanta A; Knapp B; Nagel-Wolfrum K; Wolfrum U
    Hum Mol Genet; 2017 Mar; 26(6):1157-1172. PubMed ID: 28137943
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two Finnish USH1B patients with three novel mutations in myosin VIIA.
    Vastinsalo H; Isosomppi J; Aittakorpi A; Sankila EM
    Mol Vis; 2006 Sep; 12():1093-7. PubMed ID: 17093394
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
    Le Quesne Stabej P; Saihan Z; Rangesh N; Steele-Stallard HB; Ambrose J; Coffey A; Emmerson J; Haralambous E; Hughes Y; Steel KP; Luxon LM; Webster AR; Bitner-Glindzicz M
    J Med Genet; 2012 Jan; 49(1):27-36. PubMed ID: 22135276
    [TBL] [Abstract][Full Text] [Related]  

  • 16. An update on the genetics of usher syndrome.
    Millán JM; Aller E; Jaijo T; Blanco-Kelly F; Gimenez-Pardo A; Ayuso C
    J Ophthalmol; 2011; 2011():417217. PubMed ID: 21234346
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
    Stingl K; Kurtenbach A; Hahn G; Kernstock C; Hipp S; Zobor D; Kohl S; Bonnet C; Mohand-Saïd S; Audo I; Fakin A; Hawlina M; Testa F; Simonelli F; Petit C; Sahel JA; Zrenner E
    Doc Ophthalmol; 2019 Oct; 139(2):151-160. PubMed ID: 31267413
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
    Sun T; Xu K; Ren Y; Xie Y; Zhang X; Tian L; Li Y
    Invest Ophthalmol Vis Sci; 2018 Mar; 59(3):1229-1237. PubMed ID: 29625443
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
    Bonnet C; Grati M; Marlin S; Levilliers J; Hardelin JP; Parodi M; Niasme-Grare M; Zelenika D; Délépine M; Feldmann D; Jonard L; El-Amraoui A; Weil D; Delobel B; Vincent C; Dollfus H; Eliot MM; David A; Calais C; Vigneron J; Montaut-Verient B; Bonneau D; Dubin J; Thauvin C; Duvillard A; Francannet C; Mom T; Lacombe D; Duriez F; Drouin-Garraud V; Thuillier-Obstoy MF; Sigaudy S; Frances AM; Collignon P; Challe G; Couderc R; Lathrop M; Sahel JA; Weissenbach J; Petit C; Denoyelle F
    Orphanet J Rare Dis; 2011 May; 6():21. PubMed ID: 21569298
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.
    Zou J; Chen Q; Almishaal A; Mathur PD; Zheng T; Tian C; Zheng QY; Yang J
    Hum Mol Genet; 2017 Feb; 26(3):624-636. PubMed ID: 28031293
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.