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Journal Abstract Search

190 related items for PubMed ID: 34515044

  • 1. A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia.
    Tamura S, Kosako H, Furuya Y, Yamashita Y, Mushino T, Mishima H, Kinoshita A, Nishikawa A, Yoshiura KI, Sonoki T.
    Acta Haematol; 2022; 145(1):89-96. PubMed ID: 34515044
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  • 3. Dissecting KMT2D missense mutations in Kabuki syndrome patients.
    Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G.
    Hum Mol Genet; 2018 Nov 01; 27(21):3651-3668. PubMed ID: 30107592
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  • 5. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
    Yap CS, Jamuar SS, Lai AHM, Tan ES, Ng I, Ting TW, Tan EC.
    Gene; 2020 Mar 20; 731():144360. PubMed ID: 31935506
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  • 6. 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 20; 37(9):847-64. PubMed ID: 27302555
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  • 8. 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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  • 10. A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
    Lu J, Mo G, Ling Y, Ji L.
    Mol Med Rep; 2016 Oct 27; 14(4):3641-5. PubMed ID: 27573763
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  • 11. Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
    de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F.
    Am J Med Genet A; 2019 Jan 27; 179(1):113-117. PubMed ID: 30569626
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  • 13. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
    Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH.
    Hum Mol Genet; 2015 Aug 01; 24(15):4443-53. PubMed ID: 25972376
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  • 14. Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.
    Gohda Y, Oka S, Matsunaga T, Watanabe S, Yoshiura K, Kondoh T, Matsumoto T.
    Pediatr Int; 2015 Aug 01; 57(4):726-8. PubMed ID: 25944076
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  • 16. Holoprosencephaly in Kabuki syndrome.
    Daly T, Roberts A, Yang E, Mochida GH, Bodamer O.
    Am J Med Genet A; 2020 Mar 01; 182(3):441-445. PubMed ID: 31846209
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