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338 related items for PubMed ID: 31446696

  • 1. [One novel pathologic variation in KMT2D cause Kabuki syndrome with hearing loss as the main phenotype and related research on types of deafness].
    Qiu SW, Yuan YY.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Sep; 33(9):820-824. PubMed ID: 31446696
    [Abstract] [Full Text] [Related]

  • 2. 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; 37(9):847-64. PubMed ID: 27302555
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
    Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY.
    J Hum Genet; 2014 Jun 20; 59(6):321-5. PubMed ID: 24739679
    [Abstract] [Full Text] [Related]

  • 6. 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 20; 88(3):255-60. PubMed ID: 25142838
    [Abstract] [Full Text] [Related]

  • 7. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
    Shangguan H, Su C, Ouyang Q, Cao B, Wang J, Gong C, Chen R.
    Orphanet J Rare Dis; 2019 Nov 14; 14(1):255. PubMed ID: 31727177
    [Abstract] [Full Text] [Related]

  • 8. Kabuki syndrome: international consensus diagnostic criteria.
    Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N, Kabuki Syndrome Medical Advisory Board.
    J Med Genet; 2019 Feb 14; 56(2):89-95. PubMed ID: 30514738
    [Abstract] [Full Text] [Related]

  • 9. 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 14; 137(1):179-187.e10. PubMed ID: 26194542
    [Abstract] [Full Text] [Related]

  • 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 14; 14(4):3641-5. PubMed ID: 27573763
    [Abstract] [Full Text] [Related]

  • 11. 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 14; 90(3):230-7. PubMed ID: 26841933
    [Abstract] [Full Text] [Related]

  • 12. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
    Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA.
    Am J Med Genet A; 2016 Dec 14; 170(12):3333-3337. PubMed ID: 27568880
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
    Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.
    Genet Med; 2019 Jan 27; 21(1):233-242. PubMed ID: 29907798
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.
    Lintas C, Persico AM.
    Clin Genet; 2018 Oct 27; 94(3-4):283-295. PubMed ID: 28139835
    [Abstract] [Full Text] [Related]

  • 17. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
    Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K.
    Am J Med Genet A; 2020 Oct 27; 182(10):2333-2344. PubMed ID: 32803813
    [Abstract] [Full Text] [Related]

  • 18. 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 27; 35(7):841-50. PubMed ID: 24633898
    [Abstract] [Full Text] [Related]

  • 19. 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 Jul 27; 14(4):381-389. PubMed ID: 29725259
    [Abstract] [Full Text] [Related]

  • 20. Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report.
    Guo W, Zhao Y, Li S, Wang J, Liu X.
    BMC Med Genet; 2020 Oct 02; 21(1):193. PubMed ID: 33008324
    [Abstract] [Full Text] [Related]

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