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Journal Abstract Search

331 related items for PubMed ID: 22539353

  • 21. Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
    Colin E, Bonneau D, Boussion F, Guichet A, Delorme B, Triau S, Gillard P, Kitzis A, Bilan F.
    Prenat Diagn; 2012 Jul; 32(7):692-4. PubMed ID: 22517486
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  • 22. 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; 74(1):31-8. PubMed ID: 18445044
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  • 23. Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
    Chen X, Yan K, Gao Y, Wang H, Chen G, Wu B, Qin Q, Yang L, Zhou W.
    BMC Med Genet; 2019 May 30; 20(1):93. PubMed ID: 31146700
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  • 24. 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 30; 126(6):e1594-8. PubMed ID: 21041284
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  • 25. 8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.
    Palumbo O, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M.
    Gene; 2013 Jan 15; 513(1):209-13. PubMed ID: 23142376
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  • 34. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.
    O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF.
    Eur J Hum Genet; 2016 Aug 15; 24(8):1216-9. PubMed ID: 26813943
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  • 35. Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
    Lee B, Duz MB, Sagong B, Koparir A, Lee KY, Choi JY, Seven M, Yuksel A, Kim UK, Ozen M.
    Gene; 2016 Feb 01; 576(2 Pt 2):776-81. PubMed ID: 26551301
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  • 36. 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 01; 83(2):125-34. PubMed ID: 22462537
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  • 37. Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.
    Kaliakatsos M, Giannakopoulos A, Fryssira H, Kanariou M, Skiathitou AV, Siahanidou T, Giannikou K, Makrythanasis P, Kanavakis E, Tzetis M.
    J Hum Genet; 2010 Nov 01; 55(11):761-3. PubMed ID: 20686492
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  • 38. 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 01; 72(2):112-21. PubMed ID: 17661815
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  • 39. Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
    De Luca C, Picone S, Cassina M, Marziali S, Morlino S, Camerota L, Tamburrini G, Castori M, Paolillo P, Salviati L, Brancati F.
    Am J Med Genet A; 2021 Jul 01; 185(7):2160-2163. PubMed ID: 33844462
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  • 40. 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 01; 55(11):646-9. PubMed ID: 22902603
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