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Journal Abstract Search

289 related items for PubMed ID: 31833191

  • 1. 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
    [Abstract] [Full Text] [Related]

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

  • 3. CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.
    Corsten-Janssen N, du Marchie Sarvaas GJ, Kerstjens-Frederikse WS, Hoefsloot LH, van Beynum IM, Kapusta L, van Ravenswaaij-Arts CM.
    Am J Med Genet A; 2014 Dec; 164A(12):3003-9. PubMed ID: 25257999
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  • 4. The cardiac phenotype in patients with a CHD7 mutation.
    Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L.
    Circ Cardiovasc Genet; 2013 Jun; 6(3):248-54. PubMed ID: 23677905
    [Abstract] [Full Text] [Related]

  • 5. 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
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  • 6. 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; 83(2):125-34. PubMed ID: 22462537
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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; 59(4):195-7. PubMed ID: 26921530
    [Abstract] [Full Text] [Related]

  • 9. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
    Hale CL, Niederriter AN, Green GE, Martin DM.
    Am J Med Genet A; 2016 Feb; 170A(2):344-354. PubMed ID: 26590800
    [Abstract] [Full Text] [Related]

  • 10. Clinical and molecular effects of CHD7 in the heart.
    Corsten-Janssen N, Scambler PJ.
    Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):487-495. PubMed ID: 29088513
    [Abstract] [Full Text] [Related]

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

  • 12. CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.
    Yan S, Thienthanasit R, Chen D, Engelen E, Brühl J, Crossman DK, Kesterson R, Wang Q, Bouazoune K, Jiao K.
    Proc Natl Acad Sci U S A; 2020 Nov 17; 117(46):28847-28858. PubMed ID: 33127760
    [Abstract] [Full Text] [Related]

  • 13. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
    Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM.
    J Med Genet; 2011 May 17; 48(5):334-42. PubMed ID: 21378379
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  • 15. CHARGE syndrome without colobomas: Ophthalmic findings.
    Dosunmu EO, Castleberry KM.
    Am J Med Genet C Semin Med Genet; 2020 Sep 17; 184(3):611-617. PubMed ID: 32914532
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  • 20. Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome.
    Lubaua I, Teraudkalna M.
    Medicina (Kaunas); 2021 Nov 13; 57(11):. PubMed ID: 34833458
    [Abstract] [Full Text] [Related]

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