Ariyurek Y - Search Results

1

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Sun Y, et al. Among authors: ariyurek y. Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008. Am J Hum Genet. 2010. PMID: 20598277 Free PMC article.

2

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.

3

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.

4

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

5

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

6

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

7

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

8

Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.

Mastrokolias A, Ariyurek Y, Goeman JJ, van Duijn E, Roos RA, van der Mast RC, van Ommen GB, den Dunnen JT, 't Hoen PA, van Roon-Mom WM. Mastrokolias A, et al. Among authors: ariyurek y. Eur J Hum Genet. 2015 Oct;23(10):1349-56. doi: 10.1038/ejhg.2014.281. Epub 2015 Jan 28. Eur J Hum Genet. 2015. PMID: 25626709 Free PMC article.

9

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.

10

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

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