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Journal Abstract Search

163 related items for PubMed ID: 17365059

  • 1. The changing face of Usher syndrome: clinical implications.
    Cohen M, Bitner-Glindzicz M, Luxon L.
    Int J Audiol; 2007 Feb; 46(2):82-93. PubMed ID: 17365059
    [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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. [Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits].
    Blanchet C, Roux AF, Hamel C, Ben Salah S, Artières F, Faugère V, Uziel A, Mondain M.
    Rev Laryngol Otol Rhinol (Bord); 2007 Feb; 128(3):137-43. PubMed ID: 18323324
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
    Tamayo ML, Lopez G, Gelvez N, Medina D, Kimberling WJ, Rodríguez V, Tamayo GE, Bernal JE.
    Genet Couns; 2008 Dec; 19(1):15-27. PubMed ID: 18564497
    [Abstract] [Full Text] [Related]

  • 8. Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
    Lenarduzzi S, Vozzi D, Morgan A, Rubinato E, D'Eustacchio A, Osland TM, Rossi C, Graziano C, Castorina P, Ambrosetti U, Morgutti M, Girotto G.
    Hear Res; 2015 Feb; 320():18-23. PubMed ID: 25575603
    [Abstract] [Full Text] [Related]

  • 9. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
    Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM.
    Hum Mutat; 2006 Mar; 27(3):290-1. PubMed ID: 16470552
    [Abstract] [Full Text] [Related]

  • 10. Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.
    Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A.
    Mol Vis; 2007 Oct 02; 13():1862-5. PubMed ID: 17960123
    [Abstract] [Full Text] [Related]

  • 11. Update on Usher syndrome.
    Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M.
    Curr Opin Neurol; 2009 Feb 02; 22(1):19-27. PubMed ID: 19165952
    [Abstract] [Full Text] [Related]

  • 12. [Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].
    López G, Gelvez NY, Tamayo M.
    Biomedica; 2011 Mar 02; 31(1):82-90. PubMed ID: 22159486
    [Abstract] [Full Text] [Related]

  • 13. Usher syndrome in Puerto Rico: a clinical and genetic study.
    Colón-Casasnovas JE, Izquierdo NJ, Millán JM.
    Bol Asoc Med P R; 2010 Mar 02; 102(4):54-8. PubMed ID: 21766549
    [Abstract] [Full Text] [Related]

  • 14. Cochlear implantation in individuals with Usher type 1 syndrome.
    Liu XZ, Angeli SI, Rajput K, Yan D, Hodges AV, Eshraghi A, Telischi FF, Balkany TJ.
    Int J Pediatr Otorhinolaryngol; 2008 Jun 02; 72(6):841-7. PubMed ID: 18395802
    [Abstract] [Full Text] [Related]

  • 15. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
    Baux D, Faugère V, Larrieu L, Le Guédard-Méreuze S, Hamroun D, Béroud C, Malcolm S, Claustres M, Roux AF.
    Hum Mutat; 2008 Aug 02; 29(8):E76-87. PubMed ID: 18484607
    [Abstract] [Full Text] [Related]

  • 16. [Molecular genetics of Usher syndrome].
    Tazetdinov AM, Dzhemileva LU, Khusnutdinova EK.
    Genetika; 2008 Jun 02; 44(6):725-33. PubMed ID: 18727382
    [Abstract] [Full Text] [Related]

  • 17. 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 02; 29(3):451. PubMed ID: 18273898
    [Abstract] [Full Text] [Related]

  • 18. 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 02; 82(2):131-9. PubMed ID: 15043528
    [Abstract] [Full Text] [Related]

  • 19. Novel mutations in MYO7A and USH2A in Usher syndrome.
    Maubaret C, Griffoin JM, Arnaud B, Hamel C.
    Ophthalmic Genet; 2005 Mar 02; 26(1):25-9. PubMed ID: 15823922
    [Abstract] [Full Text] [Related]

  • 20. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
    Nájera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millán JM, Ayuso C.
    Hum Mutat; 2002 Jul 02; 20(1):76-7. PubMed ID: 12112664
    [Abstract] [Full Text] [Related]

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