Vossen RH - Search Results

1

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT. Aten E, et al. Among authors: vossen rh. Hum Mutat. 2010 Oct;31(10):1125-33. doi: 10.1002/humu.21335. Hum Mutat. 2010. PMID: 20672378

2

High-resolution melting analysis (HRMA): more than just sequence variant screening.

Vossen RH, Aten E, Roos A, den Dunnen JT. Vossen RH, et al. Hum Mutat. 2009 Jun;30(6):860-6. doi: 10.1002/humu.21019. Hum Mutat. 2009. PMID: 19418555 Review.

3

High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis.

Vossen RH, van Duijn M, Daha MR, den Dunnen JT, Roos A. Vossen RH, et al. Hum Mutat. 2010 Apr;31(4):E1286-93. doi: 10.1002/humu.21213. Hum Mutat. 2010. PMID: 20127985

4

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Borràs DM, Vossen RHAM, Liem M, Buermans HPJ, Dauwerse H, van Heusden D, Gansevoort RT, den Dunnen JT, Janssen B, Peters DJM, Losekoot M, Anvar SY. Borràs DM, et al. Hum Mutat. 2017 Jul;38(7):870-879. doi: 10.1002/humu.23223. Epub 2017 May 29. Hum Mutat. 2017. PMID: 28378423 Free PMC article.

5

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT. Hofstra RM, et al. Hum Mutat. 2004 Jan;23(1):57-66. doi: 10.1002/humu.10283. Hum Mutat. 2004. PMID: 14695533

6

Protein truncation test.

Vossen R, den Dunnen JT. Vossen R, et al. Curr Protoc Hum Genet. 2004 Sep;Chapter 9:Unit9.11. doi: 10.1002/0471142905.hg0911s42. Curr Protoc Hum Genet. 2004. PMID: 18428364

7

Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.

Buermans HP, Vossen RH, Anvar SY, Allard WG, Guchelaar HJ, White SJ, den Dunnen JT, Swen JJ, van der Straaten T. Buermans HP, et al. Among authors: vossen rh. Hum Mutat. 2017 Mar;38(3):310-316. doi: 10.1002/humu.23166. Epub 2017 Jan 18. Hum Mutat. 2017. PMID: 28044414 Free PMC article.

8

A CA repeat polymorphism at D11S1383.

Saris JJ, Vossen RH, Bakker E. Saris JJ, et al. Among authors: vossen rh. Hum Mol Genet. 1994 Mar;3(3):522. doi: 10.1093/hmg/3.3.522-a. Hum Mol Genet. 1994. PMID: 8012372 No abstract available.

9

Methods to detect CNVs in the human genome.

Aten E, White SJ, Kalf ME, Vossen RH, Thygesen HH, Ruivenkamp CA, Kriek M, Breuning MH, den Dunnen JT. Aten E, et al. Among authors: vossen rh. Cytogenet Genome Res. 2008;123(1-4):313-21. doi: 10.1159/000184723. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287170

10

Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.

Hassan SM, Vossen RH, Chessa R, den Dunnen JT, Bakker E, Giordano PC, Harteveld CL. Hassan SM, et al. Among authors: vossen rh. Blood Cells Mol Dis. 2014 Sep;53(3):133-7. doi: 10.1016/j.bcmd.2014.05.002. Epub 2014 May 28. Blood Cells Mol Dis. 2014. PMID: 24880717

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