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Journal Abstract Search

332 related items for PubMed ID: 27573763

  • 1. A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
    Lu J, Mo G, Ling Y, Ji L.
    Mol Med Rep; 2016 Oct; 14(4):3641-5. PubMed ID: 27573763
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  • 2. 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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  • 3. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
    Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G.
    Hum Mutat; 2014 Jul 20; 35(7):841-50. PubMed ID: 24633898
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  • 4. 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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  • 7. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
    Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA.
    J Allergy Clin Immunol; 2016 Jan 27; 137(1):179-187.e10. PubMed ID: 26194542
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  • 9. 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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  • 12. Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.
    Arsov T, Sestan M, Cekada N, Frkovic M, Andrews D, He Y, Shen N, Vinuesa CG, Jelusic M.
    Eur J Med Genet; 2019 Jun 27; 62(6):103538. PubMed ID: 30213761
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  • 13. Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.
    Cappuccio G, Rossi A, Fontana P, Acampora E, Avolio V, Merla G, Zelante L, Secinaro A, Andria G, Melis D.
    BMC Med Genet; 2014 Jan 28; 15():15. PubMed ID: 24472332
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  • 15. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.
    Porntaveetus T, Abid MF, Theerapanon T, Srichomthong C, Ohazama A, Kawasaki K, Kawasaki M, Suphapeetiporn K, Sharpe PT, Shotelersuk V.
    Int J Biol Sci; 2018 Jan 28; 14(4):381-389. PubMed ID: 29725259
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  • 16. [Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome].
    Wang HM, Wang XH, Wu HS, Wu Y, Zhuo XW.
    Zhonghua Er Ke Za Zhi; 2018 Nov 02; 56(11):846-849. PubMed ID: 30392209
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  • 17. 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 02; 179(1):113-117. PubMed ID: 30569626
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  • 18. MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
    Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT.
    Hum Mutat; 2011 Feb 02; 32(2):E2018-25. PubMed ID: 21280141
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  • 19. Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
    Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M.
    Clin Genet; 2016 Sep 02; 90(3):230-7. PubMed ID: 26841933
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  • 20. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.
    Lin JL, Lee WI, Huang JL, Chen PK, Chan KC, Lo LJ, You YJ, Shih YF, Tseng TY, Wu MC.
    Clin Genet; 2015 Sep 02; 88(3):255-60. PubMed ID: 25142838
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