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Anne Barnier

Research Profile

Disorders

Chemicals & Drugs

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Physiology

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France

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Genes & Molecular Sequences

Amino Acid Sequences

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Publications

TOP 3
Julia Dancourt; Sandrine Vuillaumier-Barrot; Helene Ogier de Baulny; Ignacio Sfaello; Anne Barnier; Christiane Le Bizec; Thierry Dupre; Geneviève Durand; Nathalie Seta; Stuart Moore
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Sandrine Vuillaumier-Barrot; Christiane Le Bizec; Pascale de Lonlay; Nathalie Madinier-Chappat; Anne Barnier; Thierry Dupré; Geneviève Durand; Nathalie Seta
PMM2 intronic branch-site mutations in CDG-Ia.
Christiane Le Bizec; Sandrine Vuillaumier-Barrot; Anne Barnier; Thierry Dupré; Geneviève Durand; Nathalie Seta
A new insight into PMM2 mutations in the French population.

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All Publications

2006: Julia Dancourt; Sandrine Vuillaumier-Barrot; Helene Ogier de Baulny; Ignacio Sfaello; Anne Barnier; Christiane Le Bizec; Thierry Dupre; Geneviève Durand; Nathalie Seta; Stuart Moore
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Pediatric research 2006;59(6):835-9.
2006: Sandrine Vuillaumier-Barrot; Christiane Le Bizec; Pascale de Lonlay; Nathalie Madinier-Chappat; Anne Barnier; Thierry Dupré; Geneviève Durand; Nathalie Seta
PMM2 intronic branch-site mutations in CDG-Ia.
Molecular genetics and metabolism 2006;87(4):337-40.
2005: Christiane Le Bizec; Sandrine Vuillaumier-Barrot; Anne Barnier; Thierry Dupré; Geneviève Durand; Nathalie Seta
A new insight into PMM2 mutations in the French population.
Human mutation 2005;25(5):504-5.
2002: Sandrine Vuillaumier-Barrot; Christiane Le Bizec; Pascale de Lonlay; Anne Barnier; G Mitchell; V Pelletier; C Prevost; Jean-Marie Saudubray; Geneviève Durand; Nathalie Seta
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
Journal of medical genetics 2002;39(11):849-51.
2002: Isabelle Chantret; Thierry Dupré; Christophe Delenda; Stéphanie Bucher; Julia Dancourt; Anne Barnier; Aude Charollais; Delphine Heron; Brigitte Bader-Meunier; Olivier Danos; Nathalie Seta; Geneviève Durand; Rafael Oriol; Patrice Codogno; Stuart Moore
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
The Journal of biological chemistry 2002;277(28):25815-22.
2002: Anne Barnier; Thierry Dupré; Maryvonne Cuer; Sandrine Vuillaumier-Barrot; Geneviève Durand; Nathalie Seta
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.
Clinical chemistry 2002;48(6 Pt 1):934-6.
2001: Thierry Dupre; Maryvonne Cuer; S Barrot; Anne Barnier; V Cormier-Daire; A Munnich; Geneviève Durand; Nathalie Seta
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
Clinical chemistry 2001;47(1):132-4.
2000: Thierry Dupré; Anne Barnier; Pascale de Lonlay; V Cormier-Daire; Geneviève Durand; Patrice Codogno; Nathalie Seta
Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.
Glycobiology 2000;10(12):1277-81.
2000: Sandrine Vuillaumier-Barrot; Gilles Hetet; Anne Barnier; Thierry Dupré; Maryvonne Cuer; Pascale de Lonlay; V Cormier-Daire; Geneviève Durand; Bernard Grandchamp; Nathalie Seta
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.
Journal of medical genetics 2000;37(8):579-80.
2000: Maryvonne Cuer; Anne Barnier; P de La Salmoniere; Geneviève Durand; Nathalie Seta
Fluorimetric measurement of plasma alpha-L-fucosidase activity with a centrifugal analyzer: reference values in a healthy French adult population.
Clinical chemistry 2000;46(4):562-4.
1999: Sandrine Vuillaumier-Barrot; Anne Barnier; Maryvonne Cuer; Geneviève Durand; Bernard Grandchamp; Nathalie Seta
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.
Human mutation 1999;14(6):543-4.