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Results: 10

1.

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.

Chen CP, Lin CJ, Chen YY, Wang LK, Chern SR, Wu PS, Su JW, Chen LF, Town DD, Pan CW, Wang W.

Gene. 2013 Dec 10;532(1):80-6. doi: 10.1016/j.gene.2013.09.025. Epub 2013 Sep 18. Review.

PMID:
24055486
[PubMed - indexed for MEDLINE]
2.

A patient with 9q subtelomeric deletion syndrome with additional findings.

Tug E, Cavdarli B, Karaoguz MY, Percin FE.

Genet Couns. 2012;23(4):465-71.

PMID:
23431745
[PubMed - indexed for MEDLINE]
3.

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D.

Eur J Hum Genet. 2013 Aug;21(8):887-90. doi: 10.1038/ejhg.2012.267. Epub 2012 Dec 12.

PMID:
23232695
[PubMed - indexed for MEDLINE]
4.

Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.

Balemans MC, Kasri NN, Kopanitsa MV, Afinowi NO, Ramakers G, Peters TA, Beynon AJ, Janssen SM, van Summeren RC, Eeftens JM, Eikelenboom N, Benevento M, Tachibana M, Shinkai Y, Kleefstra T, van Bokhoven H, Van der Zee CE.

Hum Mol Genet. 2013 Mar 1;22(5):852-66. doi: 10.1093/hmg/dds490. Epub 2012 Nov 21.

PMID:
23175442
[PubMed - indexed for MEDLINE]
Free Article
5.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.

Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR.

Hum Genet. 2012 Dec;131(12):1895-910. doi: 10.1007/s00439-012-1216-9. Epub 2012 Aug 14.

PMID:
22890305
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H.

Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21.

PMID:
22726846
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.

Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T.

Am J Med Genet A. 2011 Oct;155A(10):2409-15. doi: 10.1002/ajmg.a.34186. Epub 2011 Sep 9.

PMID:
21910222
[PubMed - indexed for MEDLINE]
8.

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

Nillesen WM, Yntema HG, Moscarda M, Verbeek NE, Wilson LC, Cowan F, Schepens M, Raas-Rothschild A, Gafni-Weinstein O, Zollino M, Vijzelaar R, Neri G, Nelen M, Bokhoven Hv, Giltay J, Kleefstra T.

Hum Mutat. 2011 Jul;32(7):853-9. doi: 10.1002/humu.21523.

PMID:
21538692
[PubMed - indexed for MEDLINE]
9.

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a.

Kramer JM, Kochinke K, Oortveld MA, Marks H, Kramer D, de Jong EK, Asztalos Z, Westwood JT, Stunnenberg HG, Sokolowski MB, Keleman K, Zhou H, van Bokhoven H, Schenck A.

PLoS Biol. 2011 Jan 4;9(1):e1000569. doi: 10.1371/journal.pbio.1000569.

PMID:
21245904
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.

Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T.

Clin Genet. 2011 Jul;80(1):31-8. doi: 10.1111/j.1399-0004.2010.01607.x. Epub 2011 Jan 10.

PMID:
21204793
[PubMed - indexed for MEDLINE]

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