Sandrine Vuillaumier‐Barrot

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès et al. · Brain · 2012 · 187 citations

G894T Polymorphism in the Endothelial Nitric Oxide Synthase Gene Is Associated With an Enhanced Vascular Responsiveness to Phenylephrine

Ivan Philip, Gaëtan Plantefève, Sandrine Vuillaumier‐Barrot et al. · Circulation · 1999 · 179 citations · Full text

Vascular Disease, G894t Polymorphism, Nitric Oxide +20

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Gert Matthijs, Els Schollen, Cecilia Bjursell et al. · Human Mutation · 2000 · 159 citations

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · The American Journal of Human Genetics · 2012 · 138 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

Pascole de Lonlay, Maryvonne Cuer, Sandrine Vuillaumier‐Barrot et al. · The Journal of Pediatrics · 1999 · 133 citations

Electrolyte Disorder, Biochemistry, Medicine +8