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Journal Abstract Search

353 related items for PubMed ID: 17329413

  • 21. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
    Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER.
    BMC Med Genet; 2004 Sep 24; 5():24. PubMed ID: 15447792
    [Abstract] [Full Text] [Related]

  • 22. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
    Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C.
    Hum Mol Genet; 2012 Sep 01; 21(17):3835-44. PubMed ID: 22678063
    [Abstract] [Full Text] [Related]

  • 23. Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation.
    Cheng YF, Tsai YH, Huang CY, Lee YS, Chang PC, Lu YC, Hsu CJ, Wu CC.
    Biochem Biophys Res Commun; 2020 Nov 19; 532(4):675-681. PubMed ID: 32917362
    [Abstract] [Full Text] [Related]

  • 24. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
    Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB.
    Hum Mutat; 2008 Apr 19; 29(4):502-11. PubMed ID: 18181211
    [Abstract] [Full Text] [Related]

  • 25. Mouse tales from Kresge: the deafness mouse.
    Drury SS, Keats BJ.
    J Am Acad Audiol; 2003 Aug 19; 14(6):296-301. PubMed ID: 14552423
    [Abstract] [Full Text] [Related]

  • 26. Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.
    Miyasaka Y, Shitara H, Suzuki S, Yoshimoto S, Seki Y, Ohshiba Y, Okumura K, Taya C, Tokano H, Kitamura K, Takada T, Hibino H, Shiroishi T, Kominami R, Yonekawa H, Kikkawa Y.
    Hum Mol Genet; 2016 May 15; 25(10):2045-2059. PubMed ID: 26936824
    [Abstract] [Full Text] [Related]

  • 27. Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage.
    Defourny J, Aghaie A, Perfettini I, Avan P, Delmaghani S, Petit C.
    Proc Natl Acad Sci U S A; 2019 Apr 16; 116(16):8010-8017. PubMed ID: 30936319
    [Abstract] [Full Text] [Related]

  • 28. New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
    Beurg M, Schimmenti LA, Koleilat A, Amr SS, Oza A, Barlow AJ, Ballesteros A, Fettiplace R.
    J Neurosci; 2021 May 19; 41(20):4378-4391. PubMed ID: 33824189
    [Abstract] [Full Text] [Related]

  • 29. Two ENU-induced alleles of Atp2b2 cause deafness in mice.
    Carpinelli MR, Manning MG, Kile BT, Burt RA.
    PLoS One; 2013 May 19; 8(6):e67479. PubMed ID: 23826306
    [Abstract] [Full Text] [Related]

  • 30. Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice.
    Street VA, McKee-Johnson JW, Fonseca RC, Tempel BL, Noben-Trauth K.
    Nat Genet; 1998 Aug 19; 19(4):390-4. PubMed ID: 9697703
    [Abstract] [Full Text] [Related]

  • 31. Distribution of pejvakin in human spiral ganglion: An immunohistochemical study.
    Liu W, Kinnefors A, Boström M, Edin F, Rask-Andersen H.
    Cochlear Implants Int; 2013 Sep 19; 14(4):225-31. PubMed ID: 23407324
    [Abstract] [Full Text] [Related]

  • 32. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
    Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD.
    Nat Genet; 2003 Aug 19; 34(4):421-8. PubMed ID: 12833159
    [Abstract] [Full Text] [Related]

  • 33. Molecular study of patients with auditory neuropathy.
    Carvalho GM, Ramos PZ, Castilho AM, Guimarães AC, Sartorato EL.
    Mol Med Rep; 2016 Jul 19; 14(1):481-90. PubMed ID: 27177047
    [Abstract] [Full Text] [Related]

  • 34. Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness.
    Kharkovets T, Dedek K, Maier H, Schweizer M, Khimich D, Nouvian R, Vardanyan V, Leuwer R, Moser T, Jentsch TJ.
    EMBO J; 2006 Feb 08; 25(3):642-52. PubMed ID: 16437162
    [Abstract] [Full Text] [Related]

  • 35. Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.
    Mitchem KL, Hibbard E, Beyer LA, Bosom K, Dootz GA, Dolan DF, Johnson KR, Raphael Y, Kohrman DC.
    Hum Mol Genet; 2002 Aug 01; 11(16):1887-98. PubMed ID: 12140191
    [Abstract] [Full Text] [Related]

  • 36. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
    Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB.
    Science; 1998 May 29; 280(5368):1447-51. PubMed ID: 9603736
    [Abstract] [Full Text] [Related]

  • 37. Melody, an ENU mutation in Caspase 3, alters the catalytic cysteine residue and causes sensorineural hearing loss in mice.
    Parker A, Hardisty-Hughes RE, Wisby L, Joyce S, Brown SD.
    Mamm Genome; 2010 Dec 29; 21(11-12):565-76. PubMed ID: 21116635
    [Abstract] [Full Text] [Related]

  • 38. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
    Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC.
    Hum Mol Genet; 2001 Oct 15; 10(22):2509-14. PubMed ID: 11709538
    [Abstract] [Full Text] [Related]

  • 39. A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
    Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H.
    Hum Genet; 2021 Jun 15; 140(6):915-931. PubMed ID: 33496845
    [Abstract] [Full Text] [Related]

  • 40. Characterization of a new allele of Ames waltzer generated by ENU mutagenesis.
    Washington JL, Pitts D, Wright CG, Erway LC, Davis RR, Alagramam K.
    Hear Res; 2005 Apr 15; 202(1-2):161-9. PubMed ID: 15811708
    [Abstract] [Full Text] [Related]

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