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Journal Abstract Search

350 related items for PubMed ID: 29178447

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  • 3. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep; 35(8):1466-70. PubMed ID: 24979395
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  • 6. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.
    Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K.
    JAMA Otolaryngol Head Neck Surg; 2017 Feb 01; 143(2):168-177. PubMed ID: 27832265
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  • 7. 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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  • 8. 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 01; 48(5):334-42. PubMed ID: 21378379
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  • 9. 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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  • 12. 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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  • 14. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
    Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE.
    Pediatrics; 2009 May 01; 123(5):e871-7. PubMed ID: 19403480
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  • 20. CHARGE syndrome in nine patients from China.
    Cheng SSW, Luk HM, Chan DKH, Lo IFM.
    Am J Med Genet A; 2020 Jan 01; 182(1):15-19. PubMed ID: 31729160
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