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Items: 1 to 20 of 105

1.

Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism.

Nagy J, Kobolák J, Berzsenyi S, Ábrahám Z, Avci HX, Bock I, Bekes Z, Hodoscsek B, Chandrasekaran A, Téglási A, Dezső P, Koványi B, Vörös ET, Fodor L, Szél T, Németh K, Balázs A, Dinnyés A, Lendvai B, Lévay G, Román V.

Transl Psychiatry. 2017 Jul 25;7(7):e1179. doi: 10.1038/tp.2017.144.

2.

Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment.

Vermeulen K, Staal WG, Janzing JG, van Bokhoven H, Egger JIM, Kleefstra T.

Clin Neuropharmacol. 2017 Jul/Aug;40(4):185-188. doi: 10.1097/WNF.0000000000000226.

PMID:
28622207
3.

Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.

Vermeulen K, de Boer A, Janzing JGE, Koolen DA, Ockeloen CW, Willemsen MH, Verhoef FM, van Deurzen PAM, van Dongen L, van Bokhoven H, Egger JIM, Staal WG, Kleefstra T.

Am J Med Genet A. 2017 May 12. doi: 10.1002/ajmg.a.38280. [Epub ahead of print]

PMID:
28498556
4.

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.

Blackburn PR, Williams M, Cousin MA, Boczek NJ, Beek GJ, Lomberk GA, Urrutia RA, Babovic-Vuksanovic D, Klee EW.

Mol Genet Genomic Med. 2017 Jan 26;5(2):141-146. doi: 10.1002/mgg3.268. eCollection 2017 Mar.

5.

A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.

Mitra AK, Dodge J, Van Ness J, Sokeye I, Van Ness B.

Mol Genet Genomic Med. 2016 Dec 26;5(2):130-140. doi: 10.1002/mgg3.265. eCollection 2017 Mar.

6.

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.

Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW.

J Biol Chem. 2017 Mar 3;292(9):3866-3876. doi: 10.1074/jbc.M116.770545. Epub 2017 Jan 5.

7.

Establishment of EHMT1 mutant induced pluripotent stem cell (iPSC) line from a 11-year-old Kleefstra syndrome (KS) patient with autism and normal intellectual performance.

Varga E, Nemes C, Táncos Z, Bock I, Berzsenyi S, Lévay G, Román V, Kobolák J, Dinnyés A.

Stem Cell Res. 2016 Nov;17(3):531-533. doi: 10.1016/j.scr.2016.09.031. Epub 2016 Oct 2.

8.

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.

Bock I, Németh K, Pentelényi K, Balicza P, Balázs A, Molnár MJ, Román V, Nagy J, Lévay G, Kobolák J, Dinnyés A.

Gene. 2016 Dec 31;595(2):131-141. doi: 10.1016/j.gene.2016.09.027. Epub 2016 Sep 17.

PMID:
27651234
9.

Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling.

Benevento M, Iacono G, Selten M, Ba W, Oudakker A, Frega M, Keller J, Mancini R, Lewerissa E, Kleefstra T, Stunnenberg HG, Zhou H, van Bokhoven H, Nadif Kasri N.

Neuron. 2016 Jul 20;91(2):341-55. doi: 10.1016/j.neuron.2016.06.003. Epub 2016 Jun 30.

10.

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.

Vargiami E, Ververi A, Al-Mutawa H, Gioula G, Gerou S, Rouvalis F, Kambouris M, Zafeiriou DI.

Case Rep Genet. 2016;2016:3056053. doi: 10.1155/2016/3056053. Epub 2016 Apr 30.

11.

Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.

He X, Caluseriu O, Srivastava R, Denny AM, Bolduc FV.

Neurol Genet. 2016 Mar 22;2(2):e58. doi: 10.1212/NXG.0000000000000058. eCollection 2016 Apr.

12.

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.

Hadzsiev K, Komlosi K, Czako M, Duga B, Szalai R, Szabo A, Postyeni E, Szabo T, Kosztolanyi G, Melegh B.

Mol Cytogenet. 2016 Feb 25;9:22. doi: 10.1186/s13039-016-0231-2. eCollection 2016.

13.

TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.

Atik T, Karaca E, Ozkinay E, Cogulu O.

Genet Couns. 2015;26(4):431-5.

PMID:
26852514
14.

Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.

Samango-Sprouse C, Lawson P, Sprouse C, Stapleton E, Sadeghin T, Gropman A.

Am J Med Genet A. 2016 May;170A(5):1312-6. doi: 10.1002/ajmg.a.37575. Epub 2016 Feb 1.

PMID:
26833960
15.

A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

Schmidt S, Nag HE, Hunn BS, Houge G, Hoxmark LB.

Eur J Med Genet. 2016 Apr;59(4):240-8. doi: 10.1016/j.ejmg.2016.01.004. Epub 2016 Jan 22.

PMID:
26808425
16.

Deep brain stimulation for the obsessive-compulsive and Tourette-like symptoms of Kleefstra syndrome.

Segar DJ, Chodakiewitz YG, Torabi R, Cosgrove GR.

Neurosurg Focus. 2015 Jun;38(6):E12. doi: 10.3171/2015.3.FOCUS1528.

PMID:
26030700
17.

Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.

Campbell CL, Collins RT 2nd, Zarate YA.

Birth Defects Res A Clin Mol Teratol. 2014 Dec;100(12):985-90. doi: 10.1002/bdra.23324. Epub 2014 Nov 7.

PMID:
25380126
18.

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Schwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S.

Mol Cytogenet. 2014 Oct 23;7(1):74. doi: 10.1186/s13039-014-0074-7. eCollection 2014.

19.

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.

Balemans MC, Ansar M, Oudakker AR, van Caam AP, Bakker B, Vitters EL, van der Kraan PM, de Bruijn DR, Janssen SM, Kuipers AJ, Huibers MM, Maliepaard EM, Walboomers XF, Benevento M, Nadif Kasri N, Kleefstra T, Zhou H, Van der Zee CE, van Bokhoven H.

Dev Biol. 2014 Feb 15;386(2):395-407. doi: 10.1016/j.ydbio.2013.12.016. Epub 2013 Dec 19.

20.

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.

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