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Journal Abstract Search

401 related items for PubMed ID: 11850623

  • 21. Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene.
    Hertzano R, Montcouquiol M, Rashi-Elkeles S, Elkon R, Yücel R, Frankel WN, Rechavi G, Möröy T, Friedman TB, Kelley MW, Avraham KB.
    Hum Mol Genet; 2004 Sep 15; 13(18):2143-53. PubMed ID: 15254021
    [Abstract] [Full Text] [Related]

  • 22. Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function.
    Nakanishi H, Kurima K, Pan B, Wangemann P, Fitzgerald TS, Géléoc GS, Holt JR, Griffith AJ.
    Sci Rep; 2018 Aug 14; 8(1):12125. PubMed ID: 30108230
    [Abstract] [Full Text] [Related]

  • 23. Unravelling the genetics of deafness.
    Steel KP, Mburu P, Gibson F, Walsh J, Varela A, Brown K, Self T, Mahony M, Fleming J, Pearce A, Harvey D, Cable J, Brown SD.
    Ann Otol Rhinol Laryngol Suppl; 1997 May 14; 168():59-62. PubMed ID: 9153119
    [Abstract] [Full Text] [Related]

  • 24. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.
    Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP.
    Nat Genet; 2001 Jan 14; 27(1):99-102. PubMed ID: 11138007
    [Abstract] [Full Text] [Related]

  • 25. Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents.
    Gao X, Tao Y, Lamas V, Huang M, Yeh WH, Pan B, Hu YJ, Hu JH, Thompson DB, Shu Y, Li Y, Wang H, Yang S, Xu Q, Polley DB, Liberman MC, Kong WJ, Holt JR, Chen ZY, Liu DR.
    Nature; 2018 Jan 11; 553(7687):217-221. PubMed ID: 29258297
    [Abstract] [Full Text] [Related]

  • 26. Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.
    Meyer CG, Gasmelseed NM, Mergani A, Magzoub MM, Muntau B, Thye T, Horstmann RD.
    Hum Mutat; 2005 Jan 11; 25(1):100. PubMed ID: 15605408
    [Abstract] [Full Text] [Related]

  • 27. Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice.
    Parkinson NJ, Olsson CL, Hallows JL, McKee-Johnson J, Keogh BP, Noben-Trauth K, Kujawa SG, Tempel BL.
    Nat Genet; 2001 Sep 11; 29(1):61-5. PubMed ID: 11528393
    [Abstract] [Full Text] [Related]

  • 28. TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.
    Tlili A, Rebeh IB, Aifa-Hmani M, Dhouib H, Moalla J, Tlili-Chouchène J, Said MB, Lahmar I, Benzina Z, Charfedine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.
    Audiol Neurootol; 2008 Sep 11; 13(4):213-8. PubMed ID: 18259073
    [Abstract] [Full Text] [Related]

  • 29. Mouse models for deafness: lessons for the human inner ear and hearing loss.
    Avraham KB.
    Ear Hear; 2003 Aug 11; 24(4):332-41. PubMed ID: 12923424
    [Abstract] [Full Text] [Related]

  • 30. [Advances in hereditary hearing loss caused by TMC1 mutations].
    Wu K, Wang H, Wang Q.
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Mar 11; 51(3):224-9. PubMed ID: 27033582
    [Abstract] [Full Text] [Related]

  • 31. Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene.
    Mirghomizadeh F, Pfister M, Blin N, Pusch CM.
    Int J Mol Med; 2003 Jan 11; 11(1):63-4. PubMed ID: 12469219
    [Abstract] [Full Text] [Related]

  • 32. Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.
    Noguchi Y, Kurima K, Makishima T, de Angelis MH, Fuchs H, Frolenkov G, Kitamura K, Griffith AJ.
    Genetics; 2006 Aug 11; 173(4):2111-9. PubMed ID: 16648588
    [Abstract] [Full Text] [Related]

  • 33. High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v).
    Bryda EC, Kim HJ, Legare ME, Frankel WN, Noben-Trauth K.
    Genomics; 2001 May 01; 73(3):338-42. PubMed ID: 11350126
    [Abstract] [Full Text] [Related]

  • 34. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 35. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
    Guipponi M, Toh MY, Tan J, Park D, Hanson K, Ballana E, Kwong D, Cannon PZ, Wu Q, Gout A, Delorenzi M, Speed TP, Smith RJ, Dahl HH, Petersen M, Teasdale RD, Estivill X, Park WJ, Scott HS.
    Hum Mutat; 2008 Jan 01; 29(1):130-41. PubMed ID: 17918732
    [Abstract] [Full Text] [Related]

  • 36. A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata.
    Wada T, Wakabayashi Y, Takahashi S, Ushiki T, Kikkawa Y, Yonekawa H, Kominami R.
    Biochem Biophys Res Commun; 2001 Apr 27; 283(1):113-7. PubMed ID: 11322776
    [Abstract] [Full Text] [Related]

  • 37. Fine mapping of the circling (cir) gene on the distal portion of mouse chromosome 9.
    Cho KI, Lee JW, Kim KS, Lee EJ, Suh JG, Lee HJ, Kim HT, Hong SH, Chung WH, Chang KT, Hyun BH, Oh YS, Ryoo ZY.
    Comp Med; 2003 Dec 27; 53(6):642-8. PubMed ID: 14727813
    [Abstract] [Full Text] [Related]

  • 38. Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources.
    Parker LL, Gao J, Zuo J.
    Brain Res; 2006 May 26; 1091(1):235-42. PubMed ID: 16630581
    [Abstract] [Full Text] [Related]

  • 39. Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.
    Richter CA, Amin S, Linden J, Dixon J, Dixon MJ, Tucker AS.
    Hum Mol Genet; 2010 Apr 15; 19(8):1551-60. PubMed ID: 20106873
    [Abstract] [Full Text] [Related]

  • 40. A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.
    Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR.
    Proc Natl Acad Sci U S A; 2005 May 31; 102(22):7894-9. PubMed ID: 15905332
    [Abstract] [Full Text] [Related]

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