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Page 1
COG5-CDG: expanding the clinical spectrum.
Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J. Rymen D, et al. Orphanet J Rare Dis. 2012 Dec 10;7:94. doi: 10.1186/1750-1172-7-94. Orphanet J Rare Dis. 2012. PMID: 23228021 Free PMC article.
MAN1B1 deficiency: an unexpected CDG-II.
Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M, Topaloglu H, Jaeken J, Foulquier F, Matthijs G. Rymen D, et al. PLoS Genet. 2013;9(12):e1003989. doi: 10.1371/journal.pgen.1003989. Epub 2013 Dec 12. PLoS Genet. 2013. PMID: 24348268 Free PMC article.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Among authors: rymen d. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Blommaert E, Péanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G. Blommaert E, et al. Among authors: rymen d. Proc Natl Acad Sci U S A. 2019 May 14;116(20):9865-9870. doi: 10.1073/pnas.1817815116. Epub 2019 Apr 29. Proc Natl Acad Sci U S A. 2019. PMID: 31036665 Free PMC article.
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. Among authors: rymen d. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
Congenital disorders of glycosylation: other causes of ichthyosis.
Jaeken J, Rymen D, Matthijs G. Jaeken J, et al. Among authors: rymen d. Eur J Hum Genet. 2014 Apr;22(4):444. doi: 10.1038/ejhg.2013.168. Epub 2013 Jul 31. Eur J Hum Genet. 2014. PMID: 23900269 Free PMC article. No abstract available.
Key features and clinical variability of COG6-CDG.
Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U. Rymen D, et al. Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29. Mol Genet Metab. 2015. PMID: 26260076
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Among authors: rymen d. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.
33 results