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Journal Abstract Search

186 related items for PubMed ID: 23495722

  • 1. Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
    Cappuccio G, Ginocchio VM, Maffè A, Ungari S, Andria G, Melis D.
    Clin Genet; 2014 Feb; 85(2):201-2. PubMed ID: 23495722
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  • 2. 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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  • 3. Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
    Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S.
    Int J Pediatr Otorhinolaryngol; 2010 Dec 01; 74(12):1441-4. PubMed ID: 20943277
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  • 5. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
    Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.
    J Clin Endocrinol Metab; 2014 Oct 01; 99(10):E2138-43. PubMed ID: 25077900
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  • 7. CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.
    Song MH, Cho HJ, Lee HK, Kwon TJ, Lee WS, Oh S, Bok J, Choi JY, Kim UK.
    PLoS One; 2011 Oct 01; 6(9):e24511. PubMed ID: 21931733
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  • 10. 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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  • 12. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
    Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF.
    Proc Natl Acad Sci U S A; 2014 Dec 16; 111(50):17953-8. PubMed ID: 25472840
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  • 18. 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 16; 185(2):544-548. PubMed ID: 33184947
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  • 19. Mutation update on the CHD7 gene involved in CHARGE syndrome.
    Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.
    Hum Mutat; 2012 Aug 16; 33(8):1149-60. PubMed ID: 22461308
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  • 20. A novel missense variant in CHD7, a rare cause of CHARGE syndrome.
    Joslyn P, Meddaugh H, Torres J, Patrick-Esteve J, Olister S, Mumphrey C, Zambrano R.
    Clin Dysmorphol; 2020 Jul 16; 29(3):158-160. PubMed ID: 31929333
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