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Journal Abstract Search

192 related items for PubMed ID: 21338411

  • 21. Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features.
    Khalifa OA, Walter CU, Rahbeeni ZA, Verloes A.
    Eur J Med Genet; 2011; 54(2):173-6. PubMed ID: 21094707
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  • 23. Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.
    Basson MA, van Ravenswaaij-Arts C.
    Trends Genet; 2015 Oct; 31(10):600-611. PubMed ID: 26411921
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  • 25. Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype.
    Wincent J, Schulze A, Schoumans J.
    Eur J Med Genet; 2009 Oct; 52(4):271-2. PubMed ID: 19248844
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  • 26. CHARGEd with neural crest defects.
    Pauli S, Bajpai R, Borchers A.
    Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):478-486. PubMed ID: 29082625
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  • 27. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.
    Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A.
    Pediatrics; 2010 Dec; 126(6):e1594-8. PubMed ID: 21041284
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  • 28. 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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  • 33. Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.
    Luo H, Xie L, Wang SZ, Chen JL, Huang C, Wang J, Yang JF, Zhang WZ, Yang YF, Tan ZP.
    Eur J Med Genet; 2012 Nov; 55(11):646-9. PubMed ID: 22902603
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  • 35. 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
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  • 37. 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; 72(2):112-21. PubMed ID: 17661815
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  • 40. CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.
    Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, van Ravenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S.
    Hum Genet; 2014 Aug; 133(8):997-1009. PubMed ID: 24728844
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