Matthijs G - Search Results

1

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

Albuisson J, Pêcheux C, Carel JC, Lacombe D, Leheup B, Lapuzina P, Bouchard P, Legius E, Matthijs G, Wasniewska M, Delpech M, Young J, Hardelin JP, Dodé C. Albuisson J, et al. Among authors: matthijs g. Hum Mutat. 2005 Jan;25(1):98-9. doi: 10.1002/humu.9298. Hum Mutat. 2005. PMID: 15605412

2

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.

Michils G, Tejpar S, Thoelen R, van Cutsem E, Vermeesch JR, Fryns JP, Legius E, Matthijs G. Michils G, et al. Among authors: matthijs g. Hum Mutat. 2005 Feb;25(2):125-34. doi: 10.1002/humu.20122. Hum Mutat. 2005. PMID: 15643602

3

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

4

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

5

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

6

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M. Matalonga L, et al. Among authors: matthijs g. Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26. Hum Mutat. 2017. PMID: 27862579

7

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L. Molinari F, et al. Among authors: matthijs g. Am J Hum Genet. 2008 May;82(5):1150-7. doi: 10.1016/j.ajhg.2008.03.021. Epub 2008 May 1. Am J Hum Genet. 2008. PMID: 18455129 Free PMC article.

8

EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletion.

Spaepen M, Neven E, Sagaert X, De Hertogh G, Beert E, Wimmer K, Matthijs G, Legius E, Brems H. Spaepen M, et al. Among authors: matthijs g. Genes Chromosomes Cancer. 2013 Sep;52(9):845-54. doi: 10.1002/gcc.22080. Epub 2013 Jun 26. Genes Chromosomes Cancer. 2013. PMID: 23801599

9

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.

van der Stoep N, van Paridon CD, Janssens T, Krenkova P, Stambergova A, Macek M, Matthijs G, Bakker E. van der Stoep N, et al. Among authors: matthijs g. Hum Mutat. 2009 Jun;30(6):899-909. doi: 10.1002/humu.21004. Hum Mutat. 2009. PMID: 19370767

10

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

Vega AI, Pérez-Cerdá C, Desviat LR, Matthijs G, Ugarte M, Pérez B. Vega AI, et al. Among authors: matthijs g. Hum Mutat. 2009 May;30(5):795-803. doi: 10.1002/humu.20960. Hum Mutat. 2009. PMID: 19235233

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