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Journal Abstract Search

177 related items for PubMed ID: 20186814

  • 1. 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; 152A(3):665-73. PubMed ID: 20186814
    [Abstract] [Full Text] [Related]

  • 2. 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; 152A(3):674-86. PubMed ID: 20186815
    [Abstract] [Full Text] [Related]

  • 3. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
    Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.
    Am J Hum Genet; 2006 Feb; 78(2):303-14. PubMed ID: 16400610
    [Abstract] [Full Text] [Related]

  • 4. Congenital aplasia of the semicircular canals.
    Satar B, Mukherji SK, Telian SA.
    Otol Neurotol; 2003 May; 24(3):437-46. PubMed ID: 12806296
    [Abstract] [Full Text] [Related]

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

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  • 7. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
    Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J.
    Clin Genet; 2008 Jul 10; 74(1):31-8. PubMed ID: 18445044
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 123(5):e871-7. PubMed ID: 19403480
    [Abstract] [Full Text] [Related]

  • 9. CHARGE syndrome.
    Blake KD, Prasad C.
    Orphanet J Rare Dis; 2006 Sep 07; 1():34. PubMed ID: 16959034
    [Abstract] [Full Text] [Related]

  • 10. 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 07; 93(3):920-4. PubMed ID: 18089695
    [Abstract] [Full Text] [Related]

  • 11. Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings.
    Morimoto AK, Wiggins RH, Hudgins PA, Hedlund GL, Hamilton B, Mukherji SK, Telian SA, Harnsberger HR.
    AJNR Am J Neuroradiol; 2006 Sep 07; 27(8):1663-71. PubMed ID: 16971610
    [Abstract] [Full Text] [Related]

  • 12. A new classification for cochleovestibular malformations.
    Sennaroglu L, Saatci I.
    Laryngoscope; 2002 Dec 07; 112(12):2230-41. PubMed ID: 12461346
    [Abstract] [Full Text] [Related]

  • 13. 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 07; 43(4):306-14. PubMed ID: 16155193
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 185(2):544-548. PubMed ID: 33184947
    [Abstract] [Full Text] [Related]

  • 15. Radial aplasia in CHARGE syndrome: a new association.
    Wright EM, O'Connor R, Kerr BA.
    Eur J Med Genet; 2009 Feb 07; 52(4):239-41. PubMed ID: 19375527
    [Abstract] [Full Text] [Related]

  • 16. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
    Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D.
    Clin Genet; 2007 Aug 07; 72(2):112-21. PubMed ID: 17661815
    [Abstract] [Full Text] [Related]

  • 17. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.
    Meisner JK, Martin DM.
    Am J Med Genet C Semin Med Genet; 2020 Mar 07; 184(1):81-89. PubMed ID: 31833191
    [Abstract] [Full Text] [Related]

  • 18. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
    Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S.
    Clin Genet; 2013 Feb 07; 83(2):125-34. PubMed ID: 22462537
    [Abstract] [Full Text] [Related]

  • 19. [Molecular diagnosis of CHARGE syndrom].
    Pedersen AM, Skovby F.
    Ugeskr Laeger; 2007 Jan 29; 169(5):402-6. PubMed ID: 17280632
    [Abstract] [Full Text] [Related]

  • 20. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
    Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T.
    J Med Genet; 2006 Mar 29; 43(3):211-217. PubMed ID: 16169932
    [Abstract] [Full Text] [Related]

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