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Items: 17

1.

Streptococcus pneumoniae arginine synthesis genes promote growth and virulence in pneumococcal meningitis.

Piet JR, Geldhoff M, van Schaik BD, Brouwer MC, Valls Seron M, Jakobs ME, Schipper K, Pannekoek Y, Zwinderman AH, van der Poll T, van Kampen AH, Baas F, van der Ende A, van de Beek D.

J Infect Dis. 2014 Jun 1;209(11):1781-91. doi: 10.1093/infdis/jit818. Epub 2013 Dec 13.

PMID:
24338350
2.

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Mook OR, Haagmans MA, Soucy JF, van de Meerakker JB, Baas F, Jakobs ME, Hofman N, Christiaans I, Lekanne Deprez RH, Mannens MM.

J Med Genet. 2013 Sep;50(9):614-26. doi: 10.1136/jmedgenet-2012-101231. Epub 2013 Jun 19.

3.

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

Weterman MA, Sorrentino V, Kasher PR, Jakobs ME, van Engelen BG, Fluiter K, de Wissel MB, Sizarov A, Nürnberg G, Nürnberg P, Zelcer N, Schelhaas HJ, Baas F.

Hum Mol Genet. 2012 Jan 15;21(2):358-70. doi: 10.1093/hmg/ddr471. Epub 2011 Oct 19.

4.

Looking ultra deep: short identical sequences and transcriptional slippage.

Ritz K, van Schaik BD, Jakobs ME, Aronica E, Tijssen MA, van Kampen AH, Baas F.

Genomics. 2011 Aug;98(2):90-5. doi: 10.1016/j.ygeno.2011.05.005. Epub 2011 May 23.

5.

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?

Ritz K, van Schaik BD, Jakobs ME, van Kampen AH, Aronica E, Tijssen MA, Baas F.

Eur J Hum Genet. 2011 Apr;19(4):438-44. doi: 10.1038/ejhg.2010.206. Epub 2010 Dec 15.

6.

Human T-cell memory consists mainly of unexpanded clones.

Klarenbeek PL, Tak PP, van Schaik BD, Zwinderman AH, Jakobs ME, Zhang Z, van Kampen AH, van Lier RA, Baas F, de Vries N.

Immunol Lett. 2010 Sep 6;133(1):42-8. doi: 10.1016/j.imlet.2010.06.011. Epub 2010 Jul 16.

PMID:
20621124
7.

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.

Hulsebos TJ, Kenter SB, Jakobs ME, Baas F, Chong B, Delatycki MB.

Clin Genet. 2010 Jan;77(1):86-91. doi: 10.1111/j.1399-0004.2009.01249.x. Epub 2009 Nov 3.

PMID:
19912265
8.

LAD-1/variant syndrome is caused by mutations in FERMT3.

Kuijpers TW, van de Vijver E, Weterman MA, de Boer M, Tool AT, van den Berg TK, Moser M, Jakobs ME, Seeger K, Sanal O, Unal S, Cetin M, Roos D, Verhoeven AJ, Baas F.

Blood. 2009 May 7;113(19):4740-6. doi: 10.1182/blood-2008-10-182154. Epub 2008 Dec 8.

9.

Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis.

Van Vught PW, Van Wijk J, Bradley TE, Plasmans D, Jakobs ME, Veldink JH, de Jong JM, Van den Berg LH, Baas F.

Neuromuscul Disord. 2007 Dec;17(11-12):964-7. Epub 2007 Jul 24.

PMID:
17651970
10.

In vivo tumor growth inhibition and biodistribution studies of locked nucleic acid (LNA) antisense oligonucleotides.

Fluiter K, ten Asbroek AL, de Wissel MB, Jakobs ME, Wissenbach M, Olsson H, Olsen O, Oerum H, Baas F.

Nucleic Acids Res. 2003 Feb 1;31(3):953-62.

11.

Ribonuclease H1 maps to chromosome 2 and has at least three pseudogene loci in the human genome.

ten Asbroek AL, van Groenigen M, Jakobs ME, Koevoets C, Janssen B, Baas F.

Genomics. 2002 Jun;79(6):818-23.

PMID:
12036296
12.

Genetic analysis of fetal nucleated red blood cells from CVS washings.

Jakobs ME, van Lith JM, de Graaf IM, Knegt AC, Hoovers JM.

Prenat Diagn. 2000 Oct;20(10):832-4.

PMID:
11038464
13.

Enrichment, identification and analysis of fetal cells from maternal blood: evaluation of a prenatal diagnosis system.

de Graaf IM, Jakobs ME, Leschot NJ, Ravkin I, Goldbard S, Hoovers JM.

Prenat Diagn. 1999 Jul;19(7):648-52.

PMID:
10419613
14.

First-trimester non-invasive prenatal diagnosis of triploidy.

de Graaf IM, van Bezouw SM, Jakobs ME, Leschot NJ, Zondervan HA, Bilardo CM, Hoovers JM.

Prenat Diagn. 1999 Feb;19(2):175-7.

PMID:
10215078
16.
17.

Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization.

Schuring-Blom GH, Keijzer M, Jakobs ME, Van den Brande DM, Visser HM, Wiegant J, Hoovers JM, Leschot NJ.

Prenat Diagn. 1993 Aug;13(8):671-9.

PMID:
8284286

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