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Results: 15

1.

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;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Review.

PMID:
25281733
2.

Diverse functions of PHD fingers of the MLL/KMT2 subfamily.

Ali M, Hom RA, Blakeslee W, Ikenouye L, Kutateladze TG.

Biochim Biophys Acta. 2014 Feb;1843(2):366-71. doi: 10.1016/j.bbamcr.2013.11.016. Epub 2013 Nov 28. Review.

3.

Congenital heart defects in Kabuki syndrome.

Yuan SM.

Cardiol J. 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. Review.

4.

Genetic syndromes caused by mutations in epigenetic genes.

Berdasco M, Esteller M.

Hum Genet. 2013 Apr;132(4):359-83. doi: 10.1007/s00439-013-1271-x. Epub 2013 Jan 31. Review.

PMID:
23370504
5.

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.

Ku CS, Polychronakos C, Tan EK, Naidoo N, Pawitan Y, Roukos DH, Mort M, Cooper DN.

Mol Psychiatry. 2013 Feb;18(2):141-53. doi: 10.1038/mp.2012.58. Epub 2012 May 29. Review.

PMID:
22641181
6.

Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature.

Isidor B, Rio M, Mourier O, Habes D, Amiel J, Jacquemin E.

J Pediatr Gastroenterol Nutr. 2007 Aug;45(2):261-4. Review. No abstract available.

PMID:
17667726
7.

Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature.

Ioan DM, Fryns JP.

Genet Couns. 2007;18(1):113-7. Review.

PMID:
17515307
8.

Treatment of hip dislocation in Kabuki syndrome: a report of three hips in two patients.

Ramachandran M, Kay RM, Skaggs DL.

J Pediatr Orthop. 2007 Jan-Feb;27(1):37-40. Review.

PMID:
17195795
9.

Immune abnormalities are a frequent manifestation of Kabuki syndrome.

Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE.

Am J Med Genet A. 2005 Jun 15;135(3):278-81. Review.

PMID:
15887282
10.

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.

Geneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, Gérard M, Munnich A, Cormier-Daire V, Lyonnet S.

Am J Med Genet A. 2004 Aug 15;129A(1):64-8. Review.

PMID:
15266618
11.

Neonatal syndromes of polyendocrinopathy.

Dotta F, Vendrame F.

Endocrinol Metab Clin North Am. 2002 Jun;31(2):283-93, v. Review.

PMID:
12092451
12.

Kabuki syndrome: a review study of three hundred patients.

Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ.

Clin Dysmorphol. 2002 Apr;11(2):95-102. Review.

PMID:
12002156
13.

Genetic landmarks through philately--Kabuki theater and Kabuki syndrome.

Mhanni AA, Chudley AE.

Clin Genet. 1999 Aug;56(2):116-7. Review. No abstract available.

PMID:
10517246
14.

Ring chromosome X in a child with manifestations of Kabuki syndrome.

McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC.

Am J Med Genet. 1997 May 2;70(1):37-42. Review.

PMID:
9129739
15.

Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.

Toutain A, Plée Y, Ployet MJ, Benoit S, Perrot A, Sembely C, Barthez MA, Moraine C.

Genet Couns. 1997;8(2):99-105. Review.

PMID:
9219007
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