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Items: 1 to 20 of 185

1.

An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.

Ezgu F, Eminoglu T, Okur I, Gunduz M, Tumer L, Hasanoglu A, Dalgic B.

Genet Couns. 2011;22(2):217-20.

PMID:
21848015
2.

An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.

Verhagen JM, Oostdijk W, Terwisscha van Scheltinga CE, Schalij-Delfos NE, van Bever Y.

Eur J Med Genet. 2014 Sep;57(9):510-2. doi: 10.1016/j.ejmg.2014.05.005. Epub 2014 May 23.

PMID:
24862881
3.

Cleft hand in Kabuki make-up syndrome: case report.

Huh JK, Chung MS, Baek GH, Oh JH, Lee YH, Gong HS.

J Hand Surg Am. 2011 Apr;36(4):653-7. doi: 10.1016/j.jhsa.2010.12.033. Review.

PMID:
21411242
4.

A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia.

Yoshioka S, Takano T, Matsuwake K, Sokoda T, Takeuchi Y.

Brain Dev. 2011 Feb;33(2):174-6. doi: 10.1016/j.braindev.2010.04.001. Epub 2010 May 4.

PMID:
20444562
5.

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. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2.

PMID:
23913813
6.

Kabuki syndrome: a new case associated with Becker nevus.

Cuesta L, Betlloch I, Toledo F, Latorre N, Monteagudo AF.

Dermatol Online J. 2011 Aug 15;17(8):1.

7.

[Kabuki syndrome].

Suarez Guerrero JL, Ordónez Suarez AA, Contreras García GA.

An Pediatr (Barc). 2012 Jul;77(1):51-6. doi: 10.1016/j.anpedi.2012.01.016. Epub 2012 Mar 3. Spanish.

8.

A new autosomal recessive syndrome with Zellweger-like manifestations.

Ahn JK, Lev D, Leshinsky-Silver E, Ginzberg M, Lerman-Sagie T.

Am J Med Genet A. 2003 Jun 15;119A(3):352-5.

PMID:
12784304
9.

[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].

Andersen MS, Menazzi S, Brun P, Cocah C, Merla G, Solari A.

Arch Argent Pediatr. 2014 Feb;112(1):26-32. doi: 10.1590/S0325-00752014000100017. Spanish.

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;164A(5):1289-92. doi: 10.1002/ajmg.a.36442. Epub 2014 Mar 24. Review.

PMID:
24664873
11.

Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association.

Morcaldi G, Boccardo F, Campisi C, Bellini T, Massocco D, Bonioli E.

Lymphology. 2010 Dec;43(4):188-91.

PMID:
21446574
12.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D.

Clin Genet. 2015 Mar;87(3):252-8. doi: 10.1111/cge.12363. Epub 2014 Mar 27.

PMID:
24527667
13.

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. doi: 10.1186/1471-2415-14-143.

14.

Tremor and deep brain nuclei hyperintensities in Kabuki syndrome.

Grunseich C, Fishbein TM, Berkowitz F, Shamim EA.

Pediatr Neurol. 2010 Aug;43(2):148-50. doi: 10.1016/j.pediatrneurol.2010.03.019.

PMID:
20610129
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;155A(7):1511-6. doi: 10.1002/ajmg.a.34074. Epub 2011 Jun 10.

16.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.

Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38.

17.

Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?

Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns JP.

Genet Couns. 2005;16(2):167-71.

PMID:
16080297
18.

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

McVeigh TP, Banka S, Reardon W.

Clin Dysmorphol. 2015 Oct;24(4):135-9. doi: 10.1097/MCD.0000000000000092.

PMID:
26049589
19.

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;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.

PMID:
23320472
20.

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;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24.

PMID:
21607748
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