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Christiane Le Bizec

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Disorders

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Sandrine Vuillaumier-Barrot; Albert David; Thierry Dupré; Bertrand Isidor; Christiane Le Bizec; Nathalie Seta
Expanding the Spectrum of PMM2-CDG Phenotype.
Sandrine Vuillaumier-Barrot; C Besson; C Bouchet-Seraphin; Odile Boute; E Charluteau; M Chelbi; Louise Devisme; Férechté Encha-Razavi; A Eude-Caye; Brigitte Gilbert-Dussardier; A Goldenberg; M Gonzales; B Grandchamp; P Landrieu; Christiane Le Bizec; Philippe Loget; K Maincent; S Quentin; Nathalie Seta
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.
Sandrine Vuillaumier-Barrot; E Panagiotakaki; Christiane Le Bizec; C El Baba; B Fontaine; A Arzimanoglou; Nathalie Seta; S Nicole
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).

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All Publications

2012: Sandrine Vuillaumier-Barrot; Albert David; Thierry Dupré; Bertrand Isidor; Christiane Le Bizec; Nathalie Seta
Expanding the Spectrum of PMM2-CDG Phenotype.
JIMD reports 2012;5():123-5.
2011: Sandrine Vuillaumier-Barrot; C Besson; C Bouchet-Seraphin; Odile Boute; E Charluteau; M Chelbi; Louise Devisme; Férechté Encha-Razavi; A Eude-Caye; Brigitte Gilbert-Dussardier; A Goldenberg; M Gonzales; B Grandchamp; P Landrieu; Christiane Le Bizec; Philippe Loget; K Maincent; S Quentin; Nathalie Seta
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.
Neuromuscular disorders : NMD 2011;21(11):782-90.
2010: Sandrine Vuillaumier-Barrot; E Panagiotakaki; Christiane Le Bizec; C El Baba; B Fontaine; A Arzimanoglou; Nathalie Seta; S Nicole
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).
Neuropediatrics 2010;41(6):267-9.
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.
2001: Sandrine Vuillaumier-Barrot; Christiane Le Bizec; Geneviève Durand; Nathalie Seta
The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.
Journal of human genetics 2001;46(9):547-8.