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Year Number of Results
1995 1
2001 1
2002 1
2005 2
2006 2
2010 3
2011 2
2012 1
2015 1
2024 0

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12 results

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Page 1
Expanding the Spectrum of PMM2-CDG Phenotype.
Vuillaumier-Barrot S, Isidor B, Dupré T, Le Bizec C, David A, Seta N. Vuillaumier-Barrot S, et al. Among authors: le bizec c. JIMD Rep. 2012;5:123-5. doi: 10.1007/8904_2011_114. Epub 2011 Dec 25. JIMD Rep. 2012. PMID: 23430927 Free PMC article.
PMM2 intronic branch-site mutations in CDG-Ia.
Vuillaumier-Barrot S, Le Bizec C, De Lonlay P, Madinier-Chappat N, Barnier A, Dupré T, Durand G, Seta N. Vuillaumier-Barrot S, et al. Among authors: le bizec c. Mol Genet Metab. 2006 Apr;87(4):337-40. doi: 10.1016/j.ymgme.2005.10.015. Epub 2005 Dec 20. Mol Genet Metab. 2006. PMID: 16376131
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N. Hully M, et al. Among authors: le bizec c. Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17. Eur J Med Genet. 2015. PMID: 26193382
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.
Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N. Vuillaumier-Barrot S, et al. Among authors: le bizec c. Neuromuscul Disord. 2011 Nov;21(11):782-90. doi: 10.1016/j.nmd.2011.06.001. Epub 2011 Jul 2. Neuromuscul Disord. 2011. PMID: 21727005
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray JM, Durand G, Seta N. Vuillaumier-Barrot S, et al. Among authors: le bizec c. J Med Genet. 2002 Nov;39(11):849-51. doi: 10.1136/jmg.39.11.849. J Med Genet. 2002. PMID: 12414827 Free PMC article. No abstract available.
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE. Dupré T, et al. Among authors: le bizec c. J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. J Med Genet. 2010. PMID: 20679665 Free article.
12 results