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Journal Abstract Search

210 related items for PubMed ID: 9002678

  • 21. The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).
    Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J, Kimberling WJ.
    Genomics; 1997 Feb 15; 40(1):73-9. PubMed ID: 9070921
    [Abstract] [Full Text] [Related]

  • 22. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.
    Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS.
    Proc Natl Acad Sci U S A; 1995 Oct 10; 92(21):9815-9. PubMed ID: 7568224
    [Abstract] [Full Text] [Related]

  • 23. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.
    Chaïb H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C.
    Hum Mol Genet; 1997 Jan 10; 6(1):27-31. PubMed ID: 9002666
    [Abstract] [Full Text] [Related]

  • 24. 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 10; 27(3):290-1. PubMed ID: 16470552
    [Abstract] [Full Text] [Related]

  • 25. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.
    Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD.
    Nat Genet; 1997 Jun 10; 16(2):188-90. PubMed ID: 9171832
    [Abstract] [Full Text] [Related]

  • 26. Searching for evidence of DFNB2.
    Astuto LM, Kelley PM, Askew JW, Weston MD, Smith RJ, Alswaid AF, Al-Rakaf M, Kimberling WJ.
    Am J Med Genet; 2002 May 15; 109(4):291-7. PubMed ID: 11992483
    [Abstract] [Full Text] [Related]

  • 27. Novel mutations in the USH1C gene in Usher syndrome patients.
    Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM.
    Mol Vis; 2010 Dec 31; 16():2948-54. PubMed ID: 21203349
    [Abstract] [Full Text] [Related]

  • 28. Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome.
    Keogh IJ, Godinho RN, Wu TP, Diaz de Palacios AM, Palacios N, Bello de Alford M, De Almada MI, MarPalacios N, Vazquez A, Mattei R, Seidman C, Seidman J, Eavey RD.
    Int J Pediatr Otorhinolaryngol; 2004 Aug 31; 68(8):1063-8. PubMed ID: 15236894
    [Abstract] [Full Text] [Related]

  • 29. Interactions in the network of Usher syndrome type 1 proteins.
    Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C.
    Hum Mol Genet; 2005 Feb 01; 14(3):347-56. PubMed ID: 15590703
    [Abstract] [Full Text] [Related]

  • 30. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
    von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A.
    Hum Mutat; 2002 Mar 01; 19(3):268-73. PubMed ID: 11857743
    [Abstract] [Full Text] [Related]

  • 31. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].
    Pennings RJ, Kremer H, Deutman AF, Kimberling WJ, Cremers CW.
    Ned Tijdschr Geneeskd; 2002 Dec 07; 146(49):2354-8. PubMed ID: 12510399
    [Abstract] [Full Text] [Related]

  • 32. Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers.
    Mouglabey YB, Nimri S, Sayegh F, El Zir E, Slim R.
    Clin Genet; 1998 Aug 07; 54(2):155-8. PubMed ID: 9761396
    [Abstract] [Full Text] [Related]

  • 33. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
    Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C.
    Nat Genet; 2001 Jan 07; 27(1):108-12. PubMed ID: 11138009
    [Abstract] [Full Text] [Related]

  • 34. Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
    Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, García-Sandoval B, Ayuso C, Nájera C, Beneyto M.
    Mol Cell Probes; 1998 Dec 07; 12(6):417-20. PubMed ID: 9843659
    [Abstract] [Full Text] [Related]

  • 35. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
    Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C.
    Hum Mutat; 2001 Dec 07; 17(1):34-41. PubMed ID: 11139240
    [Abstract] [Full Text] [Related]

  • 36. Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).
    Reiners J, Märker T, Jürgens K, Reidel B, Wolfrum U.
    Mol Vis; 2005 May 12; 11():347-55. PubMed ID: 15928608
    [Abstract] [Full Text] [Related]

  • 37. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
    Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M, French Usher Syndrome Collaboration.
    J Med Genet; 2006 Sep 12; 43(9):763-8. PubMed ID: 16679490
    [Abstract] [Full Text] [Related]

  • 38. Screen for usher syndrome 1B mutations in the ovine myosin VIIa gene.
    Slatter T, Azarian SM, Tebbutt S, Maw M, Williams DS.
    Adv Exp Med Biol; 2003 Sep 12; 533():151-5. PubMed ID: 15180259
    [No Abstract] [Full Text] [Related]

  • 39. 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 12; 35(5):391-8. PubMed ID: 9610802
    [Abstract] [Full Text] [Related]

  • 40. Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function.
    Watanabe S, Umeki N, Ikebe R, Ikebe M.
    Biochemistry; 2008 Sep 09; 47(36):9505-13. PubMed ID: 18700726
    [Abstract] [Full Text] [Related]

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