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Journal Abstract Search

439 related items for PubMed ID: 26049589

  • 1. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
    McVeigh TP, Banka S, Reardon W.
    Clin Dysmorphol; 2015 Oct; 24(4):135-9. PubMed ID: 26049589
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  • 2. MLL2 and KDM6A mutations in patients with Kabuki syndrome.
    Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N.
    Am J Med Genet A; 2013 Sep; 161A(9):2234-43. PubMed ID: 23913813
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  • 3. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
    Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M, Macek M.
    Eur J Med Genet; 2018 Jun; 61(6):315-321. PubMed ID: 29307790
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  • 5. 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; 90(3):230-7. PubMed ID: 26841933
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  • 9. Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).
    Chen YH, Sun MH, Hsia SH, Lai CC, Wu WC.
    BMC Ophthalmol; 2014 Nov 24; 14():143. PubMed ID: 25421742
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  • 10. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
    Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I.
    Am J Med Genet A; 2014 May 24; 164A(5):1289-92. PubMed ID: 24664873
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  • 11. 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 24; 170(12):3333-3337. PubMed ID: 27568880
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  • 12. Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
    Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G.
    Mol Genet Metab; 2012 Nov 24; 107(3):627-9. PubMed ID: 22840376
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  • 13. An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity.
    Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, Li Y, Altmüller J, Wollnik B.
    Am J Med Genet A; 2016 Dec 24; 170(12):3282-3288. PubMed ID: 27530281
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  • 14. 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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  • 15. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
    Tunovic S, Barkovich J, Sherr EH, Slavotinek AM.
    Am J Med Genet A; 2014 Jul 01; 164A(7):1744-9. PubMed ID: 24838796
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  • 16. 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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  • 17. Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
    Haanpää M, Schlecht H, Batra G, Clayton-Smith J, Douzgou S.
    Am J Med Genet A; 2017 Apr 20; 173(4):1115-1118. PubMed ID: 28256057
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  • 18. Holoprosencephaly in Kabuki syndrome.
    Daly T, Roberts A, Yang E, Mochida GH, Bodamer O.
    Am J Med Genet A; 2020 Mar 20; 182(3):441-445. PubMed ID: 31846209
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  • 19. 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
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  • 20. 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 20; 56(2):89-95. PubMed ID: 30514738
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