Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 169

Similar articles for PubMed (Select 21848015)

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.

[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.

7.

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.

8.

[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.

9.

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
10.

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
11.

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.

12.

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
13.

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.

14.

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.

15.

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
16.

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
17.

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
18.

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, König R, Philip N, Rizzo R, Schrander J, Pfeiffer L, et al.

Eur J Pediatr. 1994 Jun;153(6):438-45.

PMID:
8088300
19.

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;35(7):e314-6. doi: 10.1097/MPH.0b013e3182707fa8.

PMID:
23042018
20.

Dilated vein of Galen in Kabuki syndrome.

Sánchez-Carpintero R, Herranz A, Reynoso C, Zubieta JL.

Brain Dev. 2012 Jan;34(1):76-9. doi: 10.1016/j.braindev.2011.01.008. Epub 2011 Feb 16.

PMID:
21330077
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk