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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1985 2
1986 1
1989 1
1990 1
1993 2
1995 2
1996 2
1998 2
1999 1
2001 1
2002 1
2004 2
2006 1
2007 5
2008 5
2009 9
2010 3
2011 4
2012 7
2013 8
2014 2
2015 3
2016 8
2017 13
2018 12
2019 5
2020 6
2021 5
2022 9
2023 5
2024 1

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109 results

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Page 1
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: foulquier f. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 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: foulquier f. 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.
Metalloglycobiology: The power of metals in regulating glycosylation.
Durin Z, Houdou M, Legrand D, Foulquier F. Durin Z, et al. Among authors: foulquier f. Biochim Biophys Acta Gen Subj. 2023 Sep;1867(9):130412. doi: 10.1016/j.bbagen.2023.130412. Epub 2023 Jun 20. Biochim Biophys Acta Gen Subj. 2023. PMID: 37348823 Free article. Review.
Sialyltransferases functions in cancers.
Harduin-Lepers A, Krzewinski-Recchi MA, Colomb F, Foulquier F, Groux-Degroote S, Delannoy P. Harduin-Lepers A, et al. Among authors: foulquier f. Front Biosci (Elite Ed). 2012 Jan 1;4(1):499-515. doi: 10.2741/e396. Front Biosci (Elite Ed). 2012. PMID: 22201891 Review.
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: foulquier f. 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.
Insights into the regulation of cellular Mn2+ homeostasis via TMEM165.
Vicogne D, Beauval N, Durin Z, Allorge D, Kondratska K, Haustrate A, Prevarskaya N, Lupashin V, Legrand D, Foulquier F. Vicogne D, et al. Among authors: foulquier f. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166717. doi: 10.1016/j.bbadis.2023.166717. Epub 2023 Apr 14. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37062452 Free PMC article.
Golgi post-translational modifications and associated diseases.
Potelle S, Klein A, Foulquier F. Potelle S, et al. Among authors: foulquier f. J Inherit Metab Dis. 2015 Jul;38(4):741-51. doi: 10.1007/s10545-015-9851-7. Epub 2015 May 13. J Inherit Metab Dis. 2015. PMID: 25967285 Review.
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R; Genomics England Research Consortium; Genkyst Study Group; Le Meur Y, Audrézet MP, Cornec-Le Gall E. Lemoine H, et al. Among authors: foulquier f. Am J Hum Genet. 2022 Aug 4;109(8):1484-1499. doi: 10.1016/j.ajhg.2022.06.013. Epub 2022 Jul 26. Am J Hum Genet. 2022. PMID: 35896117 Free PMC article.
Glycosylation disorders of membrane trafficking.
Rosnoblet C, Peanne R, Legrand D, Foulquier F. Rosnoblet C, et al. Among authors: foulquier f. Glycoconj J. 2013 Jan;30(1):23-31. doi: 10.1007/s10719-012-9389-y. Epub 2012 May 15. Glycoconj J. 2013. PMID: 22584409 Review.
109 results