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Items: 10

1.

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

de Lange IM, Koudijs MJ, van 't Slot R, Sonsma ACM, Mulder F, Carbo EC, van Kempen MJA, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC.

J Med Genet. 2018 Oct 27. pii: jmedgenet-2018-105672. doi: 10.1136/jmedgenet-2018-105672. [Epub ahead of print]

PMID:
30368457
2.

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Tessadori F, Roessler HI, Savelberg SMC, Chocron S, Kamel SM, Duran KJ, van Haelst MM, van Haaften G, Bakkers J.

Dis Model Mech. 2018 Oct 18;11(10). pii: dmm035469. doi: 10.1242/dmm.035469.

3.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Rumping L, Tessadori F, Pouwels PJ, Vringer E, Wijnen JP, Bhogal AA, Savelberg SM, Duran KJ, Bakkers MJ, Ramos RJ, Schellekens PA, Kroes HY, Klomp DW, Black GC, Taylor RL, Bakkers JP, Prinsen HC, Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJ, Houwen RH, Haaften G, Verhoeven-Duif NM, Jans JJ, Hasselt PM.

Hum Mol Genet. 2018 Sep 18. doi: 10.1093/hmg/ddy330. [Epub ahead of print]

PMID:
30239721
4.

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

de Lange IM, Koudijs MJ, van 't Slot R, Gunning B, Sonsma ACM, van Gemert LJJM, Mulder F, Carbo EC, van Kempen MJA, Verbeek NE, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC.

Epilepsia. 2018 Mar;59(3):690-703. doi: 10.1111/epi.14021. Epub 2018 Feb 20.

PMID:
29460957
5.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM.

Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. Epub 2016 Mar 22.

PMID:
27005418
6.

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G.

Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17.

7.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

de Vries TI, Monroe GR, van Belzen MJ, van der Lans CA, Savelberg SM, Newman WG, van Haaften G, Nievelstein RA, van Haelst MM.

Eur J Hum Genet. 2016 Aug;24(9):1363-6. doi: 10.1038/ejhg.2016.14. Epub 2016 Mar 9.

8.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Monroe GR, Frederix GW, Savelberg SM, de Vries TI, Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen KL, Knoers NV, Hövels AM, van Haelst MM, Visser G, van Haaften G.

Genet Med. 2016 Sep;18(9):949-56. doi: 10.1038/gim.2015.200. Epub 2016 Feb 4.

PMID:
26845106
9.

An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.

Bruinsma CF, Savelberg SM, Kool MJ, Jolfaei MA, Van Woerden GM, Baarends WM, Elgersma Y.

Hum Mol Genet. 2016 Jan 1;25(1):1-8. doi: 10.1093/hmg/ddv436. Epub 2015 Oct 16.

PMID:
26476408
10.

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Massink MP, Créton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G.

Am J Hum Genet. 2015 Oct 1;97(4):621-6. doi: 10.1016/j.ajhg.2015.08.014. Epub 2015 Sep 17.

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