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Journal Abstract Search

270 related items for PubMed ID: 26921530

  • 1. A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.
    Wells C, Loundon N, Garabedian N, Wiener-Vacher S, Cordier-Bouvier MD, Goudeffroye G, Attié-Bitach T, Marlin S.
    Eur J Med Genet; 2016 Apr; 59(4):195-7. PubMed ID: 26921530
    [Abstract] [Full Text] [Related]

  • 2. 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; 83(2):125-34. PubMed ID: 22462537
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 74(12):1441-4. PubMed ID: 20943277
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 185(2):544-548. PubMed ID: 33184947
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 184(1):81-89. PubMed ID: 31833191
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 175(4):417-430. PubMed ID: 29178447
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 81(3):234-9. PubMed ID: 21554267
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 13. Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome.
    Adams ME, Hurd EA, Beyer LA, Swiderski DL, Raphael Y, Martin DM.
    J Comp Neurol; 2007 Oct 10; 504(5):519-32. PubMed ID: 17701983
    [Abstract] [Full Text] [Related]

  • 14. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
    Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.
    J Med Genet; 2006 Apr 10; 43(4):306-14. PubMed ID: 16155193
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 78(2):303-14. PubMed ID: 16400610
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 99(10):E2138-43. PubMed ID: 25077900
    [Abstract] [Full Text] [Related]

  • 17. De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome.
    Wang S, Lin Y, Liang P, Li Q, Li W, Wang Z, Wang J, Chen J, Zha D.
    ORL J Otorhinolaryngol Relat Spec; 2022 Oct 10; 84(5):417-424. PubMed ID: 35078197
    [Abstract] [Full Text] [Related]

  • 18. Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.
    Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS.
    Ann Lab Med; 2015 Jan 10; 35(1):141-5. PubMed ID: 25553296
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome.
    Cheng J, Ma D, Wu Y, Luo C, Huang C, Hu P, Zhang J, Jiang T, Xu Z.
    Gene; 2015 Oct 25; 571(2):298-302. PubMed ID: 26187070
    [Abstract] [Full Text] [Related]

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