Baas F - Search Results

1

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: baas f. 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.

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: baas f. 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

The therapeutic potential of LNA-modified siRNAs: reduction of off-target effects by chemical modification of the siRNA sequence.

Fluiter K, Mook OR, Baas F. Fluiter K, et al. Among authors: baas f. Methods Mol Biol. 2009;487:189-203. doi: 10.1007/978-1-60327-547-7_9. Methods Mol Biol. 2009. PMID: 19301648 Review.

4

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: baas f. 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.

5

RELN rare variants in myoclonus-dystonia.

Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. Groen JL, et al. Among authors: baas f. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840

6

Allele-specific cancer cell killing in vitro and in vivo targeting a single-nucleotide polymorphism in POLR2A.

Mook OR, Baas F, de Wissel MB, Fluiter K. Mook OR, et al. Among authors: baas f. Cancer Gene Ther. 2009 Jun;16(6):532-8. doi: 10.1038/cgt.2008.104. Epub 2009 Jan 23. Cancer Gene Ther. 2009. PMID: 19165236

7

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: baas f. 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

8

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.

Christiaans I, Kenter SB, Brink HC, van Os TA, Baas F, van den Munckhof P, Kidd AM, Hulsebos TJ. Christiaans I, et al. Among authors: baas f. J Med Genet. 2011 Feb;48(2):93-7. doi: 10.1136/jmg.2010.082420. Epub 2010 Oct 7. J Med Genet. 2011. PMID: 20930055

9

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: baas f. 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.

10

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.

van den Munckhof P, Christiaans I, Kenter SB, Baas F, Hulsebos TJ. van den Munckhof P, et al. Among authors: baas f. Neurogenetics. 2012 Feb;13(1):1-7. doi: 10.1007/s10048-011-0300-y. Epub 2011 Oct 26. Neurogenetics. 2012. PMID: 22038540

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