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Journal Abstract Search

248 related items for PubMed ID: 24979395

  • 21. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
    Pauli S, von Velsen N, Burfeind P, Steckel M, Mänz J, Buchholz A, Borozdin W, Kohlhase J.
    Clin Genet; 2012 Mar; 81(3):234-9. PubMed ID: 21554267
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  • 22. 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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  • 23. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
    Siavrienė E, Petraitytė G, Mikštienė V, Rančelis T, Maldžienė Ž, Morkūnienė A, Byčkova J, Utkus A, Kučinskas V, Preikšaitienė E.
    BMC Med Genet; 2019 Jul 17; 20(1):127. PubMed ID: 31315586
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  • 25. Congenital aplasia of the semicircular canals.
    Satar B, Mukherji SK, Telian SA.
    Otol Neurotol; 2003 May 17; 24(3):437-46. PubMed ID: 12806296
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  • 26. 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 17; 74(12):1441-4. PubMed ID: 20943277
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  • 27. The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.
    Bergman JE, de Ronde W, Jongmans MC, Wolffenbuttel BH, Drop SL, Hermus A, Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM.
    J Clin Endocrinol Metab; 2012 May 17; 97(5):E858-62. PubMed ID: 22399515
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  • 29. CHARGE syndrome in nine patients from China.
    Cheng SSW, Luk HM, Chan DKH, Lo IFM.
    Am J Med Genet A; 2020 Jan 17; 182(1):15-19. PubMed ID: 31729160
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  • 32. Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
    Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.
    J Clin Endocrinol Metab; 2008 Mar 17; 93(3):920-4. PubMed ID: 18089695
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  • 33. Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
    Choo DI, Tawfik KO, Martin DM, Raphael Y.
    Am J Med Genet C Semin Med Genet; 2017 Dec 17; 175(4):439-449. PubMed ID: 29082607
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  • 36. 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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  • 37. Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.
    Bozkaya OG, Ataman E, Randa C, Cura DO, Gürsoy S, Aksel O, Ulgenalp A.
    Balkan J Med Genet; 2015 Jun 22; 18(1):65-70. PubMed ID: 26929907
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