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Journal Abstract Search

378 related items for PubMed ID: 29914387

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  • 4. 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; 57(4):726-8. PubMed ID: 25944076
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  • 6. 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 Aug; 14(4):381-389. PubMed ID: 29725259
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  • 8. 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; 170(12):3333-3337. PubMed ID: 27568880
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  • 9. 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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  • 10. Growth pattern in Kabuki syndrome with a KMT2D mutation.
    Schott DA, Blok MJ, Gerver WJ, Devriendt K, Zimmermann LJ, Stumpel CT.
    Am J Med Genet A; 2016 Dec 20; 170(12):3172-3179. PubMed ID: 27530205
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  • 11. On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.
    Topa A, Samuelsson L, Lovmar L, Stenman G, Kölby L.
    Am J Med Genet A; 2017 Aug 20; 173(8):2219-2225. PubMed ID: 28590022
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  • 12. 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 20; 137(1):179-187.e10. PubMed ID: 26194542
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  • 13. 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 20; 185(12):3770-3783. PubMed ID: 34369642
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  • 14. 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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  • 15. Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
    Karagianni P, Lambropoulos V, Stergidou D, Fryssira H, Chatziioannidis I, Spyridakis I.
    Am J Med Genet A; 2016 May 20; 170A(5):1333-8. PubMed ID: 26898171
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  • 16. 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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  • 17. 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 20; 182(5):1053-1065. PubMed ID: 32083401
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  • 18. 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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  • 19. A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
    Bekircan-Kurt CE, Şimşek-Kiper PÖ, Boduroğlu K, Dericioğlu N.
    Turk J Pediatr; 2016 Feb 27; 58(1):97-100. PubMed ID: 27922244
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  • 20. 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 27; 161A(9):2234-43. PubMed ID: 23913813
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