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Journal Abstract Search

190 related items for PubMed ID: 9733039

  • 1. Further refinement of the Usher 2A locus at 1q41.
    Bessant DA, Payne AM, Plant C, Bird AC, Bhattacharya SS.
    J Med Genet; 1998 Sep; 35(9):773-4. PubMed ID: 9733039
    [Abstract] [Full Text] [Related]

  • 2. Homozygosity mapping to the USH2A locus in two isolated populations.
    Fagerheim T, Raeymaekers P, Merren J, Mani K, Jha GK, Baumbach L, Brox V, Breines E, Holdø BE, Holdø A, Tranebjaerg L.
    J Med Genet; 1999 Feb; 36(2):144-7. PubMed ID: 10051015
    [Abstract] [Full Text] [Related]

  • 3. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
    Sankila EM, Pakarinen L, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A.
    Hum Mol Genet; 1995 Jan; 4(1):93-8. PubMed ID: 7711740
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

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

  • 6. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
    Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C, Slim R.
    Hum Genet; 1998 Aug; 103(2):193-8. PubMed ID: 9760205
    [Abstract] [Full Text] [Related]

  • 7. 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 Aug; 17():1537-52. PubMed ID: 21686329
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Haplotype analysis of the USH1D locus and genotype-phenotype correlations.
    Liu XZ, Blanton SH, Bitner-Glindzicz M, Pandya A, Landa B, MacArdle B, Rajput K, Bellman S, Webb BT, Ping X, Smith RJ, Nance WE.
    Clin Genet; 2001 Jul; 60(1):58-62. PubMed ID: 11531971
    [Abstract] [Full Text] [Related]

  • 11. The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41.
    Sumegi J, Wang JY, Zhen DK, Eudy JD, Talmadge CB, Li BF, Berglund P, Weston MD, Yao SF, Ma-Edmonds M, Overbeck L, Kelley PM, Zabarovsky E, Uzvolgyi E, Stanbridge EJ, Klein G, Kimberling WJ.
    Genomics; 1996 Jul 01; 35(1):79-86. PubMed ID: 8661107
    [Abstract] [Full Text] [Related]

  • 12. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.
    Hmani M, Ghorbel A, Boulila-Elgaied A, Ben Zina Z, Kammoun W, Drira M, Chaabouni M, Petit C, Ayadi H.
    Eur J Hum Genet; 1999 Apr 01; 7(3):363-7. PubMed ID: 10234513
    [Abstract] [Full Text] [Related]

  • 13. Novel mutations in MYO7A and USH2A in Usher syndrome.
    Maubaret C, Griffoin JM, Arnaud B, Hamel C.
    Ophthalmic Genet; 2005 Mar 01; 26(1):25-9. PubMed ID: 15823922
    [Abstract] [Full Text] [Related]

  • 14. Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41.
    Kimberling WJ, Weston MD, Möller C, van Aarem A, Cremers CW, Sumegi J, Ing PS, Connolly C, Martini A, Milani M.
    Am J Hum Genet; 1995 Jan 01; 56(1):216-23. PubMed ID: 7825581
    [Abstract] [Full Text] [Related]

  • 15. Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
    Hmani-Aifa M, Benzina Z, Zulfiqar F, Dhouib H, Shahzadi A, Ghorbel A, Rebaï A, Söderkvist P, Riazuddin S, Kimberling WJ, Ayadi H.
    Eur J Hum Genet; 2009 Apr 01; 17(4):474-82. PubMed ID: 18854872
    [Abstract] [Full Text] [Related]

  • 16. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.
    Pieke-Dahl S, Möller CG, Kelley PM, Astuto LM, Cremers CW, Gorin MB, Kimberling WJ.
    J Med Genet; 2000 Apr 01; 37(4):256-62. PubMed ID: 10745043
    [Abstract] [Full Text] [Related]

  • 17. Linkage analysis in Usher syndrome type I (USH1) families from Spain.
    Espinós C, Nájera C, Millán JM, Ayuso C, Baiget M, Pérez-Garrigues H, Rodrigo O, Vilela C, Beneyto M.
    J Med Genet; 1998 May 01; 35(5):391-8. PubMed ID: 9610802
    [Abstract] [Full Text] [Related]

  • 18. Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
    Adato A, Weston MD, Berry A, Kimberling WJ, Bonne-Tamir A.
    Hum Mutat; 2000 Apr 01; 15(4):388. PubMed ID: 10738000
    [Abstract] [Full Text] [Related]

  • 19. Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
    Iannaccone A, Brewer CC, Cheng P, Duncan JL, Maguire MG, Audo I, Ayala AR, Bernstein PS, Bidelman GM, Cheetham JK, Doty RL, Durham TA, Hufnagel RB, Myers MH, Stingl K, Zein WM, Foundation Fighting Blindness Consortium Investigator Group.
    Am J Med Genet A; 2021 Dec 01; 185(12):3717-3727. PubMed ID: 34331386
    [Abstract] [Full Text] [Related]

  • 20. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
    Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J.
    Science; 1998 Jun 12; 280(5370):1753-7. PubMed ID: 9624053
    [Abstract] [Full Text] [Related]

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