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Journal Abstract Search

156 related items for PubMed ID: 31929333

  • 21. A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.
    Brajadenta GS, Bilan F, Gilbert-Dussardier B, Kitzis A, Thoreau V.
    Eur J Hum Genet; 2019 Nov; 27(11):1683-1691. PubMed ID: 31289371
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. Sema3a plays a role in the pathogenesis of CHARGE syndrome.
    Ufartes R, Schwenty-Lara J, Freese L, Neuhofer C, Möller J, Wehner P, van Ravenswaaij-Arts CMA, Wong MTY, Schanze I, Tzschach A, Bartsch O, Borchers A, Pauli S.
    Hum Mol Genet; 2018 Apr 15; 27(8):1343-1352. PubMed ID: 29432577
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  • 24. CHARGEd with neural crest defects.
    Pauli S, Bajpai R, Borchers A.
    Am J Med Genet C Semin Med Genet; 2017 Dec 15; 175(4):478-486. PubMed ID: 29082625
    [Abstract] [Full Text] [Related]

  • 25. 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 15; 99(10):E2138-43. PubMed ID: 25077900
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  • 26. 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 15; 6(9):e24511. PubMed ID: 21931733
    [Abstract] [Full Text] [Related]

  • 27. Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
    Balasubramanian R, Crowley WF.
    Am J Med Genet C Semin Med Genet; 2017 Dec 15; 175(4):507-515. PubMed ID: 29152903
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  • 28. Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome.
    Cho HJ, Song MH, Choi SY, Kim J, Lee J, Kim UK, Bok J, Choi JY.
    Gene; 2013 Apr 01; 517(2):164-8. PubMed ID: 23333604
    [Abstract] [Full Text] [Related]

  • 29. CHARGE syndrome: a review.
    Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, Mehr S.
    J Paediatr Child Health; 2014 Jul 01; 50(7):504-11. PubMed ID: 24548020
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. A novel CHD7 variant in a chinese family with CHARGE syndrome.
    Shan Y, Yao L, Li L, Gao X, Jiang J.
    Genes Genomics; 2024 Mar 01; 46(3):379-387. PubMed ID: 37273125
    [Abstract] [Full Text] [Related]

  • 32. Clinical and molecular effects of CHD7 in the heart.
    Corsten-Janssen N, Scambler PJ.
    Am J Med Genet C Semin Med Genet; 2017 Dec 01; 175(4):487-495. PubMed ID: 29088513
    [Abstract] [Full Text] [Related]

  • 33. CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.
    Lau CL, Chee YY, Chung BHY, Wong MSR.
    BMJ Case Rep; 2020 Jul 22; 13(7):. PubMed ID: 32699053
    [Abstract] [Full Text] [Related]

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  • 35. 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 22; 33(8):1149-60. PubMed ID: 22461308
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  • 37. Clinical utility gene card for: CHARGE syndrome - update 2015.
    van Ravenswaaij-Arts CM, Blake K, Hoefsloot L, Verloes A.
    Eur J Hum Genet; 2015 Nov 22; 23(11):. PubMed ID: 25689928
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