Matthijs G - Search Results

1

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Robyns T, Kuiperi C, Breckpot J, Devriendt K, Souche E, Van Cleemput J, Willems R, Nuyens D, Matthijs G, Corveleyn A. Robyns T, et al. Among authors: matthijs g. Eur J Hum Genet. 2017 Dec;25(12):1313-1323. doi: 10.1038/s41431-017-0004-3. Epub 2017 Oct 10. Eur J Hum Genet. 2017. PMID: 29255176 Free PMC article.

2

Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).

Michils G, Tejpar S, Fryns JP, Legius E, Van Cutsem E, Cassiman JJ, Matthijs G. Michils G, et al. Among authors: matthijs g. Eur J Hum Genet. 2002 Sep;10(9):505-10. doi: 10.1038/sj.ejhg.5200825. Eur J Hum Genet. 2002. PMID: 12173026

3

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

Schollen E, Martens K, Geuzens E, Matthijs G. Schollen E, et al. Among authors: matthijs g. Eur J Hum Genet. 2002 Oct;10(10):643-8. doi: 10.1038/sj.ejhg.5200858. Eur J Hum Genet. 2002. PMID: 12357336

4

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E. Schollen E, et al. Among authors: matthijs g. Eur J Hum Genet. 2003 Jan;11(1):85-8. doi: 10.1038/sj.ejhg.5200915. Eur J Hum Genet. 2003. PMID: 12529711

5

Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.

Van Hove JL, Wevers RA, Van Cleemput J, Moerman P, Sciot R, Matthijs G, Schollen E, de Jong JG, Carey WF, Muller V, Nicholls C, Perkins K, Hopwood JJ. Van Hove JL, et al. Among authors: matthijs g. Am J Med Genet A. 2003 May 1;118A(4):382-7. doi: 10.1002/ajmg.a.20068. Am J Med Genet A. 2003. PMID: 12687673

6

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M. Irrthum A, et al. Among authors: matthijs g. Am J Hum Genet. 2003 Jun;72(6):1470-8. doi: 10.1086/375614. Epub 2003 May 8. Am J Hum Genet. 2003. PMID: 12740761 Free PMC article.

7

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

Van Esch H, Dom R, Bex D, Salden I, Caeckebeke J, Wibail A, Borghgraef M, Legius E, Fryns JP, Matthijs G. Van Esch H, et al. Among authors: matthijs g. Eur J Hum Genet. 2005 Jan;13(1):121-3. doi: 10.1038/sj.ejhg.5201312. Eur J Hum Genet. 2005. PMID: 15483640

8

Patenting and licensing in genetic testing.

ESHG Working Party on Patenting and Licensing. ESHG Working Party on Patenting and Licensing. Eur J Hum Genet. 2008 Apr;16(4):405-11. doi: 10.1038/sj.ejhg.5201929. Eur J Hum Genet. 2008. PMID: 18354424

9

A standardized framework for the validation and verification of clinical molecular genetic tests.

Mattocks CJ, Morris MA, Matthijs G, Swinnen E, Corveleyn A, Dequeker E, Müller CR, Pratt V, Wallace A; EuroGentest Validation Group. Mattocks CJ, et al. Among authors: matthijs g. Eur J Hum Genet. 2010 Dec;18(12):1276-88. doi: 10.1038/ejhg.2010.101. Epub 2010 Jul 28. Eur J Hum Genet. 2010. PMID: 20664632 Free PMC article.

10

Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law.

Huys I, Van Overwalle G, Matthijs G. Huys I, et al. Among authors: matthijs g. Eur J Hum Genet. 2011 Oct;19(10):1104-7. doi: 10.1038/ejhg.2011.76. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654725 Free PMC article.

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