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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.
TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G. Foulquier F, et al. Among authors: matthijs g. Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7. Am J Hum Genet. 2012. PMID: 22683087 Free PMC article.
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
Reynders E, Foulquier F, Leão Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G. Reynders E, et al. Among authors: matthijs g. Hum Mol Genet. 2009 Sep 1;18(17):3244-56. doi: 10.1093/hmg/ddp262. Epub 2009 Jun 3. Hum Mol Genet. 2009. PMID: 19494034 Free PMC article.
Screening for OST deficiencies in unsolved CDG-I patients.
Vleugels W, Schollen E, Foulquier F, Matthijs G. Vleugels W, et al. Among authors: matthijs g. Biochem Biophys Res Commun. 2009 Dec 18;390(3):769-74. doi: 10.1016/j.bbrc.2009.10.047. Epub 2009 Oct 14. Biochem Biophys Res Commun. 2009. PMID: 19835842
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: matthijs g. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.
346 results