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Journal Abstract Search

316 related items for PubMed ID: 22159486

  • 1. [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
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  • 2. 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
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  • 3. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
    Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C.
    Ophthalmic Genet; 2000 Jun; 21(2):123-8. PubMed ID: 10916187
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  • 12. 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
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  • 13. 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
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  • 15. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
    Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y.
    Mol Vis; 2011 Feb; 17():1537-52. PubMed ID: 21686329
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  • 16. USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
    Pennings RJ, Te Brinke H, Weston MD, Claassen A, Orten DJ, Weekamp H, Van Aarem A, Huygen PL, Deutman AF, Hoefsloot LH, Cremers FP, Cremers CW, Kimberling WJ, Kremer H.
    Hum Mutat; 2004 Aug; 24(2):185. PubMed ID: 15241801
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