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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

383 related items for PubMed ID: 29082607

  • 21.
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  • 22. 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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  • 25. 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 31; 59(4):195-7. PubMed ID: 26921530
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  • 27. 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
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  • 28. CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.
    Driesen J, Van Hoecke H, Maes L, Janssens S, Acke F, De Leenheer E.
    Genes (Basel); 2024 May 19; 15(5):. PubMed ID: 38790272
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  • 32. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.
    Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A.
    Pediatrics; 2010 Dec 19; 126(6):e1594-8. PubMed ID: 21041284
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  • 33. 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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  • 34. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
    Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM.
    Hum Mutat; 2012 Aug 01; 33(8):1251-60. PubMed ID: 22539353
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  • 35. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.
    O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF.
    Eur J Hum Genet; 2016 Aug 01; 24(8):1216-9. PubMed ID: 26813943
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  • 36. Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome.
    Cloney K, Steele SL, Stoyek MR, Croll RP, Smith FM, Prykhozhij SV, Brown MM, Midgen C, Blake K, Berman JN.
    FEBS J; 2018 Jun 01; 285(11):2125-2140. PubMed ID: 29660852
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  • 37. Role of Chd7 in zebrafish: a model for CHARGE syndrome.
    Patten SA, Jacobs-McDaniels NL, Zaouter C, Drapeau P, Albertson RC, Moldovan F.
    PLoS One; 2012 Jun 01; 7(2):e31650. PubMed ID: 22363697
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  • 39. CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.
    Yan S, Thienthanasit R, Chen D, Engelen E, Brühl J, Crossman DK, Kesterson R, Wang Q, Bouazoune K, Jiao K.
    Proc Natl Acad Sci U S A; 2020 Nov 17; 117(46):28847-28858. PubMed ID: 33127760
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  • 40. Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report.
    Ganaha A, Tono T, Kaname T, Yanagi K, Higa T, Kondo S, Maeda H, Suzuki M.
    Otol Neurotol; 2017 Aug 17; 38(7):990-995. PubMed ID: 28609304
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