Jakobs ME - Search Results

1

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. Kuijpers TW, et al. Among authors: jakobs me. Blood. 2009 May 7;113(19):4740-6. doi: 10.1182/blood-2008-10-182154. Epub 2008 Dec 8. Blood. 2009. PMID: 19064721 Free article.

2

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. Weterman MA, et al. Among authors: jakobs me. Hum Mol Genet. 2012 Jan 15;21(2):358-70. doi: 10.1093/hmg/ddr471. Epub 2011 Oct 19. Hum Mol Genet. 2012. PMID: 22012984 Free PMC article.

3

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.

Hulsebos TJ, Kenter SB, Jakobs ME, Baas F, Chong B, Delatycki MB. Hulsebos TJ, et al. Among authors: jakobs me. Clin Genet. 2010 Jan;77(1):86-91. doi: 10.1111/j.1399-0004.2009.01249.x. Epub 2009 Nov 3. Clin Genet. 2010. PMID: 19912265

4

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. ten Asbroek AL, et al. Among authors: jakobs me. Genomics. 2002 Jun;79(6):818-23. doi: 10.1006/geno.2002.6776. Genomics. 2002. PMID: 12036296

5

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. Mook OR, et al. Among authors: jakobs me. J Med Genet. 2013 Sep;50(9):614-26. doi: 10.1136/jmedgenet-2012-101231. Epub 2013 Jun 19. J Med Genet. 2013. PMID: 23785128 Free PMC article.

6

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. Ritz K, et al. Among authors: jakobs me. Eur J Hum Genet. 2011 Apr;19(4):438-44. doi: 10.1038/ejhg.2010.206. Epub 2010 Dec 15. Eur J Hum Genet. 2011. PMID: 21157498 Free PMC article.

7

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. Ritz K, et al. Among authors: jakobs me. Genomics. 2011 Aug;98(2):90-5. doi: 10.1016/j.ygeno.2011.05.005. Epub 2011 May 23. Genomics. 2011. PMID: 21624457 Free article.

8

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. Klarenbeek PL, et al. Among authors: jakobs me. Immunol Lett. 2010 Sep 6;133(1):42-8. doi: 10.1016/j.imlet.2010.06.011. Epub 2010 Jul 16. Immunol Lett. 2010. PMID: 20621124

9

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. Fluiter K, et al. Among authors: jakobs me. Nucleic Acids Res. 2003 Feb 1;31(3):953-62. doi: 10.1093/nar/gkg185. Nucleic Acids Res. 2003. PMID: 12560491 Free PMC article.

10

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. Piet JR, et al. Among authors: jakobs me. J Infect Dis. 2014 Jun 1;209(11):1781-91. doi: 10.1093/infdis/jit818. Epub 2013 Dec 13. J Infect Dis. 2014. PMID: 24338350

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