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Journal Abstract Search

150 related items for PubMed ID: 26929907

  • 1. 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; 18(1):65-70. PubMed ID: 26929907
    [Abstract] [Full Text] [Related]

  • 2. Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome.
    Kim Y, Lee HS, Yu JS, Ahn K, Ki CS, Kim J.
    Korean J Pediatr; 2014 Jan; 57(1):46-9. PubMed ID: 24578717
    [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. 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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  • 7. 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]

  • 8. Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.
    Krueger LA, Morris AC.
    Front Cell Dev Biol; 2022 Oct 10; 10():994412. PubMed ID: 36172288
    [Abstract] [Full Text] [Related]

  • 9. Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.
    Martínez-Quintana E, Rodríguez-González F, Garay-Sánchez P, Tugores A.
    Mol Syndromol; 2014 Jan 10; 5(1):36-40. PubMed ID: 24550764
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11.
    Usman N, Sur M.
    ; 2024 01 10. PubMed ID: 32644625
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 74(1):31-8. PubMed ID: 18445044
    [Abstract] [Full Text] [Related]

  • 13. 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 Jul 10; 11():592. PubMed ID: 32625235
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 23(2):45-51. PubMed ID: 24790386
    [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 01; 99(10):E2138-43. PubMed ID: 25077900
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
    Antoniou MC, Bouthors T, Xu C, Phan-Hug F, Elowe-Gruau E, Stoppa-Vaucher S, Sloot AV, Acierno J, Cassatella D, Richard C, Dwyer A, Pitteloud N, Hauschild M.
    Ann Pediatr Endocrinol Metab; 2019 Mar 01; 24(1):49-54. PubMed ID: 30943680
    [Abstract] [Full Text] [Related]

  • 19. Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.
    Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B.
    Eur J Med Genet; 2010 Mar 01; 53(5):280-5. PubMed ID: 20624498
    [Abstract] [Full Text] [Related]

  • 20. 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]

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