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Journal Abstract Search

137 related items for PubMed ID: 32625235

  • 1. Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
    Qin Z, Su J, Li M, Yang Q, Yi S, Zheng H, Zhang Q, Chen F, Yi S, Lu W, Li W, Huang L, Xu J, Shen Y, Luo J.
    Front Genet; 2020; 11():592. PubMed ID: 32625235
    [Abstract] [Full Text] [Related]

  • 2. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
    Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.
    Am J Hum Genet; 2006 Feb; 78(2):303-14. PubMed ID: 16400610
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  • 3. 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; 48(5):334-42. PubMed ID: 21378379
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  • 7. 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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  • 8. Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.
    Shoji Y, Ida S, Etani Y, Yamada H, Kayatani F, Suzuki Y, Kosaki K, Okamoto N.
    Clin Pediatr Endocrinol; 2014 Apr; 23(2):45-51. PubMed ID: 24790386
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  • 10. Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.
    Sohn YB, Ko JM, Shin CH, Yang SW, Chae JH, Lee KA.
    J Hum Genet; 2016 Mar; 61(3):235-9. PubMed ID: 26538304
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  • 11. [CHARGE syndrome in children with congenital choanal atresia].
    Kotova EN, Bogomilsky MR.
    Vestn Otorinolaringol; 2022 Mar; 87(3):7-12. PubMed ID: 35818939
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  • 12. Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
    Aksel Kılıçarslan Ö, Ataman E, Gürsoy S, Hazan F, Randa C, Çankaya T, Erçal D, Ülgenalp A, Giray Bozkaya Ö.
    Turk J Med Sci; 2018 Oct 31; 48(5):911-915. PubMed ID: 30384553
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  • 13. 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 31; 83(2):125-34. PubMed ID: 22462537
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  • 14. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
    Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B.
    Am J Med Genet C Semin Med Genet; 2017 Dec 31; 175(4):417-430. PubMed ID: 29178447
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  • 15. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
    Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T.
    J Med Genet; 2006 Mar 31; 43(3):211-217. PubMed ID: 16169932
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  • 19. Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.
    Krueger LA, Morris AC.
    Front Cell Dev Biol; 2022 Mar 31; 10():994412. PubMed ID: 36172288
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  • 20. More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.
    Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, van Ravenswaaij-Arts CM.
    Mol Syndromol; 2013 Jun 31; 4(5):235-45. PubMed ID: 23885230
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