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Journal Abstract Search

332 related items for PubMed ID: 27573763

  • 21. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
    Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D.
    Eur J Hum Genet; 2012 Apr; 20(4):381-8. PubMed ID: 22126750
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 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]

  • 24. 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 02; 84(6):539-45. PubMed ID: 23320472
    [Abstract] [Full Text] [Related]

  • 25. 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 02; 57(4):726-8. PubMed ID: 25944076
    [Abstract] [Full Text] [Related]

  • 26. The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
    Wang Y, Li N, Su Z, Xu Y, Liu S, Chen Y, Li X, Shen Y, Hung C, Wang J, Wang X, Bodamer O.
    Am J Med Genet A; 2020 Apr 02; 182(4):640-651. PubMed ID: 31883305
    [Abstract] [Full Text] [Related]

  • 27. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
    Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang KLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Geneviève D.
    Clin Genet; 2017 Sep 02; 92(3):298-305. PubMed ID: 28295206
    [Abstract] [Full Text] [Related]

  • 28. A mutation screen in patients with Kabuki syndrome.
    Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.
    Hum Genet; 2011 Dec 02; 130(6):715-24. PubMed ID: 21607748
    [Abstract] [Full Text] [Related]

  • 29. 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 Dec 02; 58(1):97-100. PubMed ID: 27922244
    [Abstract] [Full Text] [Related]

  • 30. Prenatal and perinatal history in Kabuki Syndrome.
    Rosenberg CE, Daly T, Hung C, Hsueh I, Lindsley AW, Bodamer O.
    Am J Med Genet A; 2020 Jan 02; 182(1):85-92. PubMed ID: 31654559
    [Abstract] [Full Text] [Related]

  • 31. 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 02; 100(2):158-64. PubMed ID: 25281733
    [Abstract] [Full Text] [Related]

  • 32. 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
    [Abstract] [Full Text] [Related]

  • 33. 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
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  • 35. 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 02; 173(8):2219-2225. PubMed ID: 28590022
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  • 37. 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 02; 161A(9):2234-43. PubMed ID: 23913813
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