Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2005 1
2012 1
2015 1
2017 1
2018 2
2019 4
2020 5
2021 6
2023 3
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

22 results

Results by year

Filters applied: . Clear all
Page 1
Blood metabolomics uncovers inflammation-associated mitochondrial dysfunction as a potential mechanism underlying ACLF.
Moreau R, Clària J, Aguilar F, Fenaille F, Lozano JJ, Junot C, Colsch B, Caraceni P, Trebicka J, Pavesi M, Alessandria C, Nevens F, Saliba F, Welzel TM, Albillos A, Gustot T, Fernández J, Moreno C, Baldassarre M, Zaccherini G, Piano S, Montagnese S, Vargas V, Genescà J, Solà E, Bernal W, Butin N, Hautbergue T, Cholet S, Castelli F, Jansen C, Steib C, Campion D, Mookerjee R, Rodríguez-Gandía M, Soriano G, Durand F, Benten D, Bañares R, Stauber RE, Gronbaek H, Coenraad MJ, Ginès P, Gerbes A, Jalan R, Bernardi M, Arroyo V, Angeli P; CANONIC Study Investigators of the EASL Clif Consortium; Grifols Chair; European Foundation for the Study of Chronic Liver Failure (EF Clif). Moreau R, et al. Among authors: cholet s. J Hepatol. 2020 Apr;72(4):688-701. doi: 10.1016/j.jhep.2019.11.009. Epub 2019 Nov 25. J Hepatol. 2020. PMID: 31778751
CDG biochemical screening: Where do we stand?
Bruneel A, Cholet S, Tran NT, Mai TD, Fenaille F. Bruneel A, et al. Among authors: cholet s. Biochim Biophys Acta Gen Subj. 2020 Oct;1864(10):129652. doi: 10.1016/j.bbagen.2020.129652. Epub 2020 Jun 5. Biochim Biophys Acta Gen Subj. 2020. PMID: 32512173 Review.
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Kauskot A, Mallebranche C, Bruneel A, Fenaille F, Solarz J, Viellard T, Feng M, Repérant C, Bordet JC, Cholet S, Denis CV, McCluskey G, Latour S, Martin E, Pellier I, Lasne D, Borgel D, Kracker S, Ziegler A, Tuffigo M, Fournier B, Miot C, Adam F. Kauskot A, et al. Among authors: cholet s. J Thromb Haemost. 2023 Nov;21(11):3268-3278. doi: 10.1016/j.jtha.2023.05.007. Epub 2023 May 18. J Thromb Haemost. 2023. PMID: 37207862
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Durin Z, Raynor A, Fenaille F, Cholet S, Vuillaumier-Barrot S, Alili JM, Poupon J, Oussedik ND, Tuchmann-Durand C, Attali J, Touzé R, Dupré T, Lebredonchel E, Akaffou MA, Legrand D, de Lonlay P, Bruneel A, Foulquier F. Durin Z, et al. Among authors: cholet s. Transl Res. 2024 Apr;266:57-67. doi: 10.1016/j.trsl.2023.11.005. Epub 2023 Nov 25. Transl Res. 2024. PMID: 38013006 Free article.
MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Sakhi S, Cholet S, Wehbi S, Isidor B, Cogne B, Vuillaumier-Barrot S, Dupré T, Detleft T, Schmitt E, Leheup B, Bonnet C, Feillet F, Muti C, Fenaille F, Bruneel A. Sakhi S, et al. Among authors: cholet s. Mol Genet Metab Rep. 2021 Jun 2;28:100775. doi: 10.1016/j.ymgmr.2021.100775. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34141584 Free PMC article.
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.
Raynor A, Haouari W, Ng BG, Cholet S, Harroche A, Raulet-Bussian C, Lounis-Ouaras S, Vuillaumier-Barrot S, Pascreau T, Borgel D, Freeze HH, Fenaille F, Bruneel A. Raynor A, et al. Among authors: cholet s. Clin Chim Acta. 2021 Oct;521:104-106. doi: 10.1016/j.cca.2021.07.005. Epub 2021 Jul 8. Clin Chim Acta. 2021. PMID: 34245688 Free PMC article.
"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Raynor A, Bruneel A, Vermeersch P, Cholet S, Friedrich S, Eckenweiler M, Schumann A, Hengst S, Tuncel AT, Fenaille F, Thiel C, Rymen D. Raynor A, et al. Among authors: cholet s. Proteomics Clin Appl. 2024 Mar;18(2):e2300040. doi: 10.1002/prca.202300040. Epub 2023 Oct 24. Proteomics Clin Appl. 2024. PMID: 37876147
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D; University of Washington Center for Mendelian Genomics (UW-CMG); Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH. Ng BG, et al. Among authors: cholet s. Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. doi: 10.1016/j.ajhg.2021.04.013. Epub 2021 May 7. Am J Hum Genet. 2021. PMID: 33964207 Free PMC article.
22 results