Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 21

1.

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.

2.

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
3.

Kabuki syndrome revisited.

Bokinni Y.

J Hum Genet. 2012 Apr;57(4):223-7. doi: 10.1038/jhg.2012.28. Epub 2012 Mar 22. Review.

PMID:
22437206
4.

Unmasking Kabuki syndrome.

Bögershausen N, Wollnik B.

Clin Genet. 2013 Mar;83(3):201-11. doi: 10.1111/cge.12051. Epub 2012 Nov 26. Review.

PMID:
23131014
5.

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
6.

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

Liu S, Hong X, Shen C, Shi Q, Wang J, Xiong F, Qiu Z.

BMC Med Genet. 2015 Apr 21;16:26. doi: 10.1186/s12881-015-0171-4. Review.

7.

[Kabuki syndrome: Update and review].

Arnaud M, Barat-Houari M, Gatinois V, Sanchez E, Lyonnet S, Touitou I, Geneviève D.

Arch Pediatr. 2015 Jun;22(6):653-60. doi: 10.1016/j.arcped.2015.03.020. Epub 2015 Apr 28. Review. French.

PMID:
25934606
8.

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.

Bögershausen N, Bruford E, Wollnik B.

Clin Genet. 2013 Mar;83(3):212-4. doi: 10.1111/cge.12050. Epub 2012 Nov 27. Review.

9.

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
10.

Revisiting Mendelian disorders through exome sequencing.

Ku CS, Naidoo N, Pawitan Y.

Hum Genet. 2011 Apr;129(4):351-70. doi: 10.1007/s00439-011-0964-2. Epub 2011 Feb 18. Review.

PMID:
21331778
11.

Epigenetics, autism spectrum, and neurodevelopmental disorders.

Rangasamy S, D'Mello SR, Narayanan V.

Neurotherapeutics. 2013 Oct;10(4):742-56. doi: 10.1007/s13311-013-0227-0. Review.

12.

Epigenetic control of the immune system: a lesson from Kabuki syndrome.

Stagi S, Gulino AV, Lapi E, Rigante D.

Immunol Res. 2016 Apr;64(2):345-59. doi: 10.1007/s12026-015-8707-4. Review.

PMID:
26411453
13.

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH.

Am J Med Genet A. 2003 Dec 15;123A(3):249-52. Review.

PMID:
14608645
14.

The H3K27me3 demethylase UTX in normal development and disease.

Van der Meulen J, Speleman F, Van Vlierberghe P.

Epigenetics. 2014 May;9(5):658-68. doi: 10.4161/epi.28298. Epub 2014 Feb 21. Review.

15.

Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations.

Ilyina H, Lurie I, Naumtchik I, Amoashy D, Stephanenko G, Fedotov V, Kostjuk A.

Am J Med Genet. 1995 Mar 27;56(2):127-31. Review.

PMID:
7625432
16.

CHARGE syndrome: an update.

Sanlaville D, Verloes A.

Eur J Hum Genet. 2007 Apr;15(4):389-99. Epub 2007 Feb 14. Review.

17.

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC.

Orphanet J Rare Dis. 2007 Oct 24;2:42. Review.

18.

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M.

Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Review.

PMID:
24599544
19.

Kabuki syndrome: clinical and molecular characteristics.

Cheon CK, Ko JM.

Korean J Pediatr. 2015 Sep;58(9):317-24. doi: 10.3345/kjp.2015.58.9.317. Epub 2015 Sep 21. Review.

20.

The ARID1B phenotype: what we have learned so far.

Santen GW, Clayton-Smith J; ARID1B-CSS consortium.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):276-89. doi: 10.1002/ajmg.c.31414. Epub 2014 Aug 28. Review.

PMID:
25169814
Items per page

Supplemental Content

Write to the Help Desk