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Page 1
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart J, Cortes F, Hernando-Davalillo C, Montero R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S, Serrano M. Castiglioni C, et al. Among authors: bruneel a. Hum Mutat. 2021 Feb;42(2):142-149. doi: 10.1002/humu.24151. Epub 2020 Dec 21. Hum Mutat. 2021. PMID: 33300232
Red blood cell Thomsen-Friedenreich antigen expression and galectin-3 plasma concentrations in Streptococcus pneumoniae-associated hemolytic uremic syndrome and hemolytic anemia.
Burin des Roziers N, Chadebech P, Bodivit G, Guinchard E, Bruneel A, Dupré T, Chevret L, Jugie M, Gallon P, Bierling P, Noizat-Pirenne F. Burin des Roziers N, et al. Among authors: bruneel a. Transfusion. 2015 Jun;55(6 Pt 2):1563-71. doi: 10.1111/trf.12981. Epub 2014 Dec 30. Transfusion. 2015. PMID: 25556575
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P. Schiff M, et al. Among authors: bruneel a. J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. J Med Genet. 2017. PMID: 28954837 Review.
CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille F, Cholet S, Ruel C, Caussé E, Selves J, Bridoux-Henno L, Woimant F, Dupré T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P, Bruneel A. Girard M, et al. Among authors: bruneel a. Mol Genet Metab. 2018 Jul;124(3):228-235. doi: 10.1016/j.ymgme.2018.05.002. Epub 2018 May 9. Mol Genet Metab. 2018. PMID: 29759592
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
Bruneel A, Cholet S, Drouin-Garraud V, Jacquemont ML, Cano A, Mégarbané A, Ruel C, Cheillan D, Dupré T, Vuillaumier-Barrot S, Seta N, Fenaille F. Bruneel A, et al. Electrophoresis. 2018 Dec;39(24):3123-3132. doi: 10.1002/elps.201800021. Epub 2018 Jul 3. Electrophoresis. 2018. PMID: 29869806
Serum bikunin is a biomarker of linkeropathies.
Bruneel A, Dubail J, Roseau C, Prada P, Haouari W, Huber C, Dupré T, Poüs C, Cormier-Daire V, Seta N. Bruneel A, et al. Clin Chim Acta. 2018 Oct;485:178-180. doi: 10.1016/j.cca.2018.06.044. Epub 2018 Jun 30. Clin Chim Acta. 2018. PMID: 29969625 No abstract available.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E. Witters P, et al. Among authors: bruneel a. Genet Med. 2019 May;21(5):1181-1188. doi: 10.1038/s41436-018-0301-4. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293989 Free article.
59 results