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Journal Abstract Search

180 related items for PubMed ID: 24311525

  • 1. Hypoglycemia in Kabuki syndrome.
    Subbarayan A, Hussain K.
    Am J Med Genet A; 2014 Feb; 164A(2):467-71. PubMed ID: 24311525
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome.
    Mısırlıgil M, Yıldız Y, Akın O, Odabaşı Güneş S, Arslan M, Ünay B.
    J Clin Res Pediatr Endocrinol; 2021 Nov 25; 13(4):452-455. PubMed ID: 32830475
    [Abstract] [Full Text] [Related]

  • 4. 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 25; 21(1):233-242. PubMed ID: 29907798
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
    Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.
    Clin Genet; 2013 Dec 18; 84(6):539-45. PubMed ID: 23320472
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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 28; 35(7):e314-6. PubMed ID: 23042018
    [Abstract] [Full Text] [Related]

  • 9. 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 28; 161A(9):2234-43. PubMed ID: 23913813
    [Abstract] [Full Text] [Related]

  • 10. Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand.
    Phetthong T, Tim-Aroon T, Khongkrapan A, Poomthavorn P, Wattanasirichaigoon D.
    Am J Med Genet A; 2020 Aug 28; 182(8):1873-1876. PubMed ID: 32525229
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 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 02; 170(12):3333-3337. PubMed ID: 27568880
    [Abstract] [Full Text] [Related]

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

  • 14. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
    Banka S, Howard E, Bunstone S, Chandler KE, Kerr B, Lachlan K, McKee S, Mehta SG, Tavares AL, Tolmie J, Donnai D.
    Clin Genet; 2013 May 02; 83(5):467-71. PubMed ID: 22901312
    [Abstract] [Full Text] [Related]

  • 15. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
    Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ.
    Am J Med Genet A; 2011 Jul 02; 155A(7):1511-6. PubMed ID: 21671394
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 02; 107(3):627-9. PubMed ID: 22840376
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 19. Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
    Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B.
    Arch Dis Child; 2015 Feb 27; 100(2):158-64. PubMed ID: 25281733
    [Abstract] [Full Text] [Related]

  • 20. 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 27; 173(4):1115-1118. PubMed ID: 28256057
    [Abstract] [Full Text] [Related]

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