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Journal Abstract Search

383 related items for PubMed ID: 25944076

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  • 2. Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.
    Piro E, Schierz IAM, Antona V, Pappalardo MP, Giuffrè M, Serra G, Corsello G.
    Ital J Pediatr; 2020 Sep 18; 46(1):136. PubMed ID: 32948218
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  • 6. 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
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  • 9. 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 02; 170(12):3333-3337. PubMed ID: 27568880
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  • 11. Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.
    Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M.
    J Pediatr Hematol Oncol; 2013 Oct 02; 35(7):e314-6. PubMed ID: 23042018
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  • 13. 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 02; 35(7):841-50. PubMed ID: 24633898
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  • 15. 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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  • 16. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
    Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT.
    Mol Genet Genomic Med; 2020 Feb 02; 8(2):e1072. PubMed ID: 31814321
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  • 17. 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 02; 170(12):3172-3179. PubMed ID: 27530205
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