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Journal Abstract Search

226 related items for PubMed ID: 31846209

  • 1. Holoprosencephaly in Kabuki syndrome.
    Daly T, Roberts A, Yang E, Mochida GH, Bodamer O.
    Am J Med Genet A; 2020 Mar; 182(3):441-445. PubMed ID: 31846209
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  • 2. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
    Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK.
    Am J Med Genet A; 2020 May; 182(5):1053-1065. PubMed ID: 32083401
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  • 3. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
    Stadelmaier RT, Kenna MA, Barrett D, Mullen TE, Bodamer O, Agrawal PB, Robson CD, Wojcik MH.
    Am J Med Genet A; 2021 Dec; 185(12):3770-3783. PubMed ID: 34369642
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  • 7. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
    Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J.
    BMC Med Genet; 2018 Feb 27; 19(1):31. PubMed ID: 29482518
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  • 11. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
    Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
    Hum Mutat; 2016 Sep 27; 37(9):847-64. PubMed ID: 27302555
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  • 13. The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration.
    Schwenty-Lara J, Nehl D, Borchers A.
    Hum Mol Genet; 2020 Jan 15; 29(2):305-319. PubMed ID: 31813957
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  • 16. Prenatal and perinatal history in Kabuki Syndrome.
    Rosenberg CE, Daly T, Hung C, Hsueh I, Lindsley AW, Bodamer O.
    Am J Med Genet A; 2020 Jan 15; 182(1):85-92. PubMed ID: 31654559
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  • 17. Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
    Yoon JH, Hwang S, Bae H, Kim D, Seo GH, Koh JY, Ju YS, Do HS, Kim S, Kim GH, Kim JH, Choi JH, Lee BH.
    J Hum Genet; 2024 Sep 15; 69(9):417-423. PubMed ID: 38824232
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  • 19. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
    Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ.
    Am J Med Genet A; 2011 Jul 15; 155A(7):1511-6. PubMed ID: 21671394
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