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Journal Abstract Search

383 related items for PubMed ID: 29082607

  • 1. Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
    Choo DI, Tawfik KO, Martin DM, Raphael Y.
    Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):439-449. PubMed ID: 29082607
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  • 4. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
    Hale CL, Niederriter AN, Green GE, Martin DM.
    Am J Med Genet A; 2016 Feb; 170A(2):344-354. PubMed ID: 26590800
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  • 5. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.
    Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP.
    Hum Mol Genet; 2005 Nov 15; 14(22):3463-76. PubMed ID: 16207732
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  • 6. 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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  • 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
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  • 8. CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.
    Song MH, Cho HJ, Lee HK, Kwon TJ, Lee WS, Oh S, Bok J, Choi JY, Kim UK.
    PLoS One; 2011 Oct 10; 6(9):e24511. PubMed ID: 21931733
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  • 9. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep 10; 35(8):1466-70. PubMed ID: 24979395
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  • 10. CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.
    Nie J, Ueda Y, Solivais AJ, Hashino E.
    Nat Commun; 2022 Nov 17; 13(1):7053. PubMed ID: 36396635
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  • 11. 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 17; 175(4):417-430. PubMed ID: 29178447
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  • 12. Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion.
    Ritter KE, Lynch SM, Gorris AM, Beyer LA, Kabara L, Dolan DF, Raphael Y, Martin DM.
    Hear Res; 2022 Dec 17; 426():108633. PubMed ID: 36288662
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  • 13. 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 17; 48(5):334-42. PubMed ID: 21378379
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  • 14. Mutation update on the CHD7 gene involved in CHARGE syndrome.
    Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.
    Hum Mutat; 2012 Aug 17; 33(8):1149-60. PubMed ID: 22461308
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  • 15. 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 17; 18(2):94-104. PubMed ID: 17334657
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  • 16. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
    Zentner GE, Layman WS, Martin DM, Scacheri PC.
    Am J Med Genet A; 2010 Mar 17; 152A(3):674-86. PubMed ID: 20186815
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  • 17. 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]

  • 18. The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.
    Hurd EA, Poucher HK, Cheng K, Raphael Y, Martin DM.
    Development; 2010 Sep 30; 137(18):3139-50. PubMed ID: 20736290
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  • 19. CHARGEd with neural crest defects.
    Pauli S, Bajpai R, Borchers A.
    Am J Med Genet C Semin Med Genet; 2017 Dec 30; 175(4):478-486. PubMed ID: 29082625
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  • 20. The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.
    Lewis MA, Juliano A, Robson C, Clement E, Nash R, Rajput K, D'Arco F.
    Neuroradiology; 2023 Apr 30; 65(4):819-834. PubMed ID: 36715725
    [Abstract] [Full Text] [Related]

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