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Items: 23

1.

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.

2.

ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function.

Ba W, Selten MM, van der Raadt J, van Veen H, Li LL, Benevento M, Oudakker AR, Lasabuda RSE, Letteboer SJ, Roepman R, van Wezel RJA, Courtney MJ, van Bokhoven H, Nadif Kasri N.

Cell Rep. 2016 Feb 16;14(6):1355-1368. doi: 10.1016/j.celrep.2016.01.037. Epub 2016 Feb 4.

3.

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.

4.

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

de Brouwer AP, Nabuurs SB, Verhaart IE, Oudakker AR, Hordijk R, Yntema HG, Hordijk-Hos JM, Voesenek K, de Vries BB, van Essen T, Chen W, Hu H, Chelly J, den Dunnen JT, Kalscheuer VM, Aartsma-Rus AM, Hamel BC, van Bokhoven H, Kleefstra T.

Eur J Hum Genet. 2014 Apr;22(4):480-5. doi: 10.1038/ejhg.2013.169. Epub 2013 Jul 31.

5.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.

Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP.

Am J Med Genet A. 2010 Mar;152A(3):638-45. doi: 10.1002/ajmg.a.33292.

PMID:
20186789
6.

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millán JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H.

Am J Hum Genet. 2010 Feb 12;86(2):254-61. doi: 10.1016/j.ajhg.2010.01.009. Epub 2010 Feb 4.

7.

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.

Mazzeu JF, Vianna-Morgante AM, Krepischi AC, Oudakker A, Rosenberg C, Szuhai K, McGill J, Maccraughan J, van Bokhoven H, Brunner HG.

Clin Genet. 2010 Apr;77(4):404-7. doi: 10.1111/j.1399-0004.2009.01355.x. Epub 2010 Jan 20. No abstract available.

PMID:
20095987
8.

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

Lugtenberg D, de Brouwer AP, Oudakker AR, Pfundt R, Hamel BC, van Bokhoven H, Bongers EM.

Am J Med Genet A. 2009 Feb 15;149A(4):760-6. doi: 10.1002/ajmg.a.32742.

PMID:
19291773
9.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.

Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.

10.

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.

Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S.

Am J Hum Genet. 2007 Oct;81(4):813-20. Epub 2007 Aug 21.

11.

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC.

Hum Mutat. 2007 Feb;28(2):207-8.

PMID:
17221867
12.

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H.

Am J Hum Genet. 2006 Aug;79(2):370-7. Epub 2006 Jun 13.

13.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H.

Am J Hum Genet. 2006 Feb;78(2):265-78. Epub 2005 Dec 29. Erratum in: Am J Hum Genet. 2006 May;78(5):897.

14.

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG.

J Med Genet. 2006 Apr;43(4):362-70. Epub 2005 Sep 16. Erratum in: J Med Genet. 2008 Dec;45(12):832.

15.

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H.

J Med Genet. 2005 Apr;42(4):299-306.

16.

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.

Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LB, Hamel BC, van Bokhoven H.

J Med Genet. 2004 May;41(5):394-9. No abstract available.

17.

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, van Bokhoven H, de Vries BB, Sistermans EA, Hamel BC.

Eur J Hum Genet. 2004 Jan;12(1):24-8.

18.

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, van Roosmalen T, Jacobs A, Obbema H, Brunner HG, Hamel BC, van Bokhoven H.

Am J Med Genet. 2002 Jul 1;110(3):243-7.

PMID:
12116232
19.

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

Kleefstra T, Yntema HG, Oudakker AR, de Vries BB, van Bokhoven H, Hamel BC, Poppelaars FA, Ausems MG.

Am J Med Genet. 2002 Jul 15;110(4):410-1. No abstract available.

PMID:
12116222
20.

Low frequency of MECP2 mutations in mentally retarded males.

Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, van Bokhoven H.

Eur J Hum Genet. 2002 Aug;10(8):487-90.

21.

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BB, Hamel BC.

Clin Genet. 2002 May;61(5):359-62.

PMID:
12081720
22.

Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression.

Tuerlings JH, van Golde RJ, Oudakker AR, Yntema HG, Kremer JA.

Fertil Steril. 2002 Feb;77(2):415-8.

PMID:
11821108
23.

In-frame deletion in MECP2 causes mild nonspecific mental retardation.

Yntema HG, Oudakker AR, Kleefstra T, Hamel BC, van Bokhoven H, Chelly J, Kalscheuer VM, Fryns JP, Raynaud M, Moizard MP, Moraine C.

Am J Med Genet. 2002 Jan 1;107(1):81-3. No abstract available.

PMID:
11807877

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