These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

330 related articles for article (PubMed ID: 16963483)

  • 1. Development of a genotyping microarray for Usher syndrome.
    Cremers FP; Kimberling WJ; Külm M; de Brouwer AP; van Wijk E; te Brinke H; Cremers CW; Hoefsloot LH; Banfi S; Simonelli F; Fleischhauer JC; Berger W; Kelley PM; Haralambous E; Bitner-Glindzicz M; Webster AR; Saihan Z; De Baere E; Leroy BP; Silvestri G; McKay GJ; Koenekoop RK; Millan JM; Rosenberg T; Joensuu T; Sankila EM; Weil D; Weston MD; Wissinger B; Kremer H
    J Med Genet; 2007 Feb; 44(2):153-60. PubMed ID: 16963483
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular epidemiology of Usher syndrome in Italy.
    Vozzi D; Aaspõllu A; Athanasakis E; Berto A; Fabretto A; Licastro D; Külm M; Testa F; Trevisi P; Vahter M; Ziviello C; Martini A; Simonelli F; Banfi S; Gasparini P
    Mol Vis; 2011; 17():1662-8. PubMed ID: 21738395
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
    Ebermann I; Scholl HP; Charbel Issa P; Becirovic E; Lamprecht J; Jurklies B; Millán JM; Aller E; Mitter D; Bolz H
    Hum Genet; 2007 Apr; 121(2):203-11. PubMed ID: 17171570
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
    Oishi M; Oishi A; Gotoh N; Ogino K; Higasa K; Iida K; Makiyama Y; Morooka S; Matsuda F; Yoshimura N
    Invest Ophthalmol Vis Sci; 2014 Oct; 55(11):7369-75. PubMed ID: 25324289
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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; 29(8):E76-87. PubMed ID: 18484607
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
    Jaijo T; Aller E; García-García G; Aparisi MJ; Bernal S; Avila-Fernández A; Barragán I; Baiget M; Ayuso C; Antiñolo G; Díaz-Llopis M; Külm M; Beneyto M; Nájera C; Millán JM
    Invest Ophthalmol Vis Sci; 2010 Mar; 51(3):1311-7. PubMed ID: 19683999
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
    Garcia-Garcia G; Aparisi MJ; Jaijo T; Rodrigo R; Leon AM; Avila-Fernandez A; Blanco-Kelly F; Bernal S; Navarro R; Diaz-Llopis M; Baiget M; Ayuso C; Millan JM; Aller E
    Orphanet J Rare Dis; 2011 Oct; 6():65. PubMed ID: 22004887
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
    Aller E; Jaijo T; Beneyto M; Nájera C; Morera C; Pérez-Garrigues H; Ayuso C; Millán J
    Ophthalmic Genet; 2007 Sep; 28(3):151-5. PubMed ID: 17896313
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.
    Zhou Q; Lenger C; Smith R; Kimberling WJ; Ye M; Lehmann O; MacDonald I
    Mol Vis; 2012; 18():1379-83. PubMed ID: 22690115
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
    Audo I; Bujakowska K; Mohand-Saïd S; Tronche S; Lancelot ME; Antonio A; Germain A; Lonjou C; Carpentier W; Sahel JA; Bhattacharya S; Zeitz C
    Mol Vis; 2011; 17():1598-606. PubMed ID: 21738389
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes
    Mansard L; Baux D; Vaché C; Blanchet C; Meunier I; Willems M; Faugère V; Baudoin C; Moclyn M; Bianchi J; Dollfus H; Gilbert-Dussardier B; Dupin-Deguine D; Bonneau D; Drumare I; Odent S; Zanlonghi X; Claustres M; Koenig M; Kalatzis V; Roux AF
    Int J Mol Sci; 2021 Dec; 22(24):. PubMed ID: 34948090
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic heterogeneity of Usher syndrome type II in a Dutch population.
    Pieke-Dahl S; van Aarem A; Dobin A; Cremers CW; Kimberling WJ
    J Med Genet; 1996 Sep; 33(9):753-7. PubMed ID: 8880575
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.