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Journal Abstract Search

178 related items for PubMed ID: 32914532

  • 1. CHARGE syndrome without colobomas: Ophthalmic findings.
    Dosunmu EO, Castleberry KM.
    Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):611-617. PubMed ID: 32914532
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  • 3. Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.
    Kanwar K, Bashey S, Bohnsack BL, Drackley A, Ing A, Rahmani S, Ranaivo HR, McMullen P, Skol A, Yap K, Allegretti V, Rossen JL.
    Am J Med Genet A; 2024 Aug; 194(8):e63618. PubMed ID: 38597178
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  • 7. 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; 184(1):81-89. PubMed ID: 31833191
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  • 9. 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
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  • 10. CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.
    Lau CL, Chee YY, Chung BHY, Wong MSR.
    BMJ Case Rep; 2020 Jul 22; 13(7):. PubMed ID: 32699053
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  • 12. Ocular features of CHARGE syndrome.
    McMain K, Blake K, Smith I, Johnson J, Wood E, Tremblay F, Robitaille J.
    J AAPOS; 2008 Oct 22; 12(5):460-5. PubMed ID: 18455933
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  • 13. Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.
    Onesimo R, Ricci D, Agazzi C, Leone S, Petrianni M, Orazi L, Amore F, Salerni A, Leoni C, Chieffo D, Tartaglia M, Mercuri E, Zampino G.
    Genes (Basel); 2021 Jun 25; 12(7):. PubMed ID: 34202106
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  • 14. 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 25; 59(4):195-7. PubMed ID: 26921530
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  • 19. 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 25; 43(4):306-14. PubMed ID: 16155193
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