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Journal Abstract Search

304 related items for PubMed ID: 17701983

  • 1. Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome.
    Adams ME, Hurd EA, Beyer LA, Swiderski DL, Raphael Y, Martin DM.
    J Comp Neurol; 2007 Oct 10; 504(5):519-32. PubMed ID: 17701983
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  • 3. Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.
    Hurd EA, Adams ME, Layman WS, Swiderski DL, Beyer LA, Halsey KE, Benson JM, Gong TW, Dolan DF, Raphael Y, Martin DM.
    Hear Res; 2011 Dec 10; 282(1-2):184-95. PubMed ID: 21875659
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  • 4. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.
    Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP.
    Hum Mol Genet; 2005 Nov 15; 14(22):3463-76. PubMed ID: 16207732
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  • 5. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
    Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.
    J Med Genet; 2006 Apr 15; 43(4):306-14. PubMed ID: 16155193
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  • 7. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
    Zentner GE, Layman WS, Martin DM, Scacheri PC.
    Am J Med Genet A; 2010 Mar 15; 152A(3):674-86. PubMed ID: 20186815
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  • 8. Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
    Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.
    J Clin Endocrinol Metab; 2008 Mar 15; 93(3):920-4. PubMed ID: 18089695
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  • 9. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep 15; 35(8):1466-70. PubMed ID: 24979395
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  • 10. A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.
    Wells C, Loundon N, Garabedian N, Wiener-Vacher S, Cordier-Bouvier MD, Goudeffroye G, Attié-Bitach T, Marlin S.
    Eur J Med Genet; 2016 Apr 15; 59(4):195-7. PubMed ID: 26921530
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  • 11. Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.
    Glueckert R, Rask-Andersen H, Sergi C, Schmutzhard J, Mueller B, Beckmann F, Rittinger O, Hoefsloot LH, Schrott-Fischer A, Janecke AR.
    Am J Med Genet A; 2010 Mar 15; 152A(3):665-73. PubMed ID: 20186814
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  • 12. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
    Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS, Undiagnosed Diseases Network.
    Am J Med Genet A; 2021 Feb 15; 185(2):544-548. PubMed ID: 33184947
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  • 13. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
    Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE.
    Pediatrics; 2009 May 15; 123(5):e871-7. PubMed ID: 19403480
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  • 15. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
    Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S.
    Hum Mol Genet; 2010 Jul 15; 19(14):2858-66. PubMed ID: 20453063
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