Ariyurek Y - Search Results

1

Deep sequencing to reveal new variants in pooled DNA samples.

Out AA, van Minderhout IJ, Goeman JJ, Ariyurek Y, Ossowski S, Schneeberger K, Weigel D, van Galen M, Taschner PE, Tops CM, Breuning MH, van Ommen GJ, den Dunnen JT, Devilee P, Hes FJ. Out AA, et al. Among authors: ariyurek y. Hum Mutat. 2009 Dec;30(12):1703-12. doi: 10.1002/humu.21122. Hum Mutat. 2009. PMID: 19842214

2

Large deletions in the polycystic kidney disease 1 (PKD1) gene.

Ariyurek Y, Lantinga-van Leeuwen I, Spruit L, Ravine D, Breuning MH, Peters DJ. Ariyurek Y, et al. Hum Mutat. 2004 Jan;23(1):99. doi: 10.1002/humu.9208. Hum Mutat. 2004. PMID: 14695542

3

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Roelfsema JH, et al. Among authors: ariyurek y. Am J Hum Genet. 2005 Apr;76(4):572-80. doi: 10.1086/429130. Epub 2005 Feb 10. Am J Hum Genet. 2005. PMID: 15706485 Free PMC article.

4

Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms.

't Hoen PA, Ariyurek Y, Thygesen HH, Vreugdenhil E, Vossen RH, de Menezes RX, Boer JM, van Ommen GJ, den Dunnen JT. 't Hoen PA, et al. Among authors: ariyurek y. Nucleic Acids Res. 2008 Dec;36(21):e141. doi: 10.1093/nar/gkn705. Epub 2008 Oct 15. Nucleic Acids Res. 2008. PMID: 18927111 Free PMC article.

5

Experiences with array-based sequence capture; toward clinical applications.

Almomani R, van der Heijden J, Ariyurek Y, Lai Y, Bakker E, van Galen M, Breuning MH, den Dunnen JT. Almomani R, et al. Among authors: ariyurek y. Eur J Hum Genet. 2011 Jan;19(1):50-5. doi: 10.1038/ejhg.2010.145. Epub 2010 Nov 24. Eur J Hum Genet. 2011. PMID: 21102627 Free PMC article.

6

New methods for next generation sequencing based microRNA expression profiling.

Buermans HP, Ariyurek Y, van Ommen G, den Dunnen JT, 't Hoen PA. Buermans HP, et al. Among authors: ariyurek y. BMC Genomics. 2010 Dec 20;11:716. doi: 10.1186/1471-2164-11-716. BMC Genomics. 2010. PMID: 21171994 Free PMC article.

7

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.

Phylipsen M, Chaibunruang A, Vogelaar IP, Balak JR, Schaap RA, Ariyurek Y, Fucharoen S, den Dunnen JT, Giordano PC, Bakker E, Harteveld CL. Phylipsen M, et al. Among authors: ariyurek y. Hum Mutat. 2012 Jan;33(1):272-80. doi: 10.1002/humu.21612. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922597

8

Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE.

Peters DJ, Ariyurek Y, van Dijk M, Breuning MH. Peters DJ, et al. Among authors: ariyurek y. Eur J Hum Genet. 2001 Dec;9(12):957-60. doi: 10.1038/sj.ejhg.5200756. Eur J Hum Genet. 2001. PMID: 11840199

9

Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.

Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RC, Peters DJ. Kalkhoven E, et al. Among authors: ariyurek y. Hum Mol Genet. 2003 Feb 15;12(4):441-50. doi: 10.1093/hmg/ddg039. Hum Mol Genet. 2003. PMID: 12566391

10

Genome-wide assessment of differential roles for p300 and CBP in transcription regulation.

Ramos YF, Hestand MS, Verlaan M, Krabbendam E, Ariyurek Y, van Galen M, van Dam H, van Ommen GJ, den Dunnen JT, Zantema A, 't Hoen PA. Ramos YF, et al. Among authors: ariyurek y. Nucleic Acids Res. 2010 Sep;38(16):5396-408. doi: 10.1093/nar/gkq184. Epub 2010 Apr 30. Nucleic Acids Res. 2010. PMID: 20435671 Free PMC article.

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