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Journal Abstract Search

355 related items for PubMed ID: 25119037

  • 1. Inappropriate p53 activation during development induces features of CHARGE syndrome.
    Van Nostrand JL, Brady CA, Jung H, Fuentes DR, Kozak MM, Johnson TM, Lin CY, Lin CJ, Swiderski DL, Vogel H, Bernstein JA, Attié-Bitach T, Chang CP, Wysocka J, Martin DM, Attardi LD.
    Nature; 2014 Oct 09; 514(7521):228-32. PubMed ID: 25119037
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  • 3. Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.
    Balow SA, Pierce LX, Zentner GE, Conrad PA, Davis S, Sabaawy HE, McDermott BM, Scacheri PC.
    Dev Biol; 2013 Oct 01; 382(1):57-69. PubMed ID: 23920116
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  • 7. 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 01; 78(2):303-14. PubMed ID: 16400610
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  • 9. Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.
    Gage PJ, Hurd EA, Martin DM.
    Invest Ophthalmol Vis Sci; 2015 Dec 01; 56(13):7923-30. PubMed ID: 26670829
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  • 10. CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.
    Yao H, Hill SF, Skidmore JM, Sperry ED, Swiderski DL, Sanchez GJ, Bartels CF, Raphael Y, Scacheri PC, Iwase S, Martin DM.
    JCI Insight; 2018 Feb 22; 3(4):. PubMed ID: 29467333
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  • 11. Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.
    Hurd EA, Capers PL, Blauwkamp MN, Adams ME, Raphael Y, Poucher HK, Martin DM.
    Mamm Genome; 2007 Feb 22; 18(2):94-104. PubMed ID: 17334657
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  • 12. 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
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  • 13. Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
    Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM.
    Hum Mol Genet; 2009 Jun 01; 18(11):1909-23. PubMed ID: 19279158
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  • 14. The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline.
    Jiang X, Zhou Y, Xian L, Chen W, Wu H, Gao X.
    Am J Pathol; 2012 Aug 01; 181(2):626-41. PubMed ID: 22658483
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  • 15. CHARGE and Kabuki syndromes: a phenotypic and molecular link.
    Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.
    Hum Mol Genet; 2014 Aug 15; 23(16):4396-405. PubMed ID: 24705355
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  • 16. 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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  • 17. 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
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  • 18. 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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  • 19. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep 01; 35(8):1466-70. PubMed ID: 24979395
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  • 20. Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependent.
    Hodorovich DR, Lindsley PM, Berry AA, Burton DF, Marsden KC.
    Genes Brain Behav; 2023 Jun 01; 22(3):e12839. PubMed ID: 36717082
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