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1. Vuillaumier-Barrot, S; Le Bizec, C; Durand, G; Seta, N
   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
   
   S. Vuillaumier-Barrot et al., "The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic", J HUM GENET, 46(9), 2001, pp. 547-548
2. Matthijs, G; Schollen, E; Bjursell, C; Erlandson, A; Freeze, H; Imtiaz, F; Kjaergaard, S; Martinsson, T; Schwartz, M; Seta, N; Vuillaumier-Barrot, S; Westphal, V; Winchester, B
   Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
   HUMAN MUTATION
   
   G. Matthijs et al., "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)", HUM MUTAT, 16(5), 2000, pp. 386-394
3. de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N
   "Carbohydrate-deficient glycoprotein" syndrome.
   ARCHIVES DE PEDIATRIE
   
   P. de Lonlay et al., ""Carbohydrate-deficient glycoprotein" syndrome.", ARCH PED, 7(2), 2000, pp. 173-184
4. Vuillaumier-Barrot, S; Hetet, G; Barnier, A; Dupre, T; Cuer, M; de Lonlay, P; Cormier-Daire, V; Durand, G; Grandchamp, B; Seta, N
   Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
   JOURNAL OF MEDICAL GENETICS
   
   S. Vuillaumier-Barrot et al., "Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients", J MED GENET, 37(8), 2000, pp. 579-580
5. Cormier-Daire, V; Amiel, J; Vuillaumier-Barrot, S; Tan, J; Durand, G; Munnich, A; Le Merrer, M; Seta, N
   Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism
   JOURNAL OF MEDICAL GENETICS
   
   V. Cormier-Daire et al., "Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism", J MED GENET, 37(11), 2000, pp. 875-877
6. Henrion, D; Benessiano, J; Philip, I; Vuillaumier-Barrot, S; Iglarz, M; Plantefeve, G; Chatel, D; Hvass, U; Durand, G; Desmonts, JM; Amouyel, P; Levy, BI
   The deletion genotype of the angiotensin I-converting enzyme is associatedwith an increased vascular reactivity in vivo and in vitro
   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
   
   D. Henrion et al., "The deletion genotype of the angiotensin I-converting enzyme is associatedwith an increased vascular reactivity in vivo and in vitro", J AM COL C, 34(3), 1999, pp. 830-836
7. de Lonlay, P; Cuer, M; Vuillaumier-Barrot, S; Beaune, G; Castelnau, P; Kretz, M; Durand, G; Saudubray, JM; Seta, N
   Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
   JOURNAL OF PEDIATRICS
   
   P. de Lonlay et al., "Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose", J PEDIAT, 135(3), 1999, pp. 379-383
8. Philip, I; Plantefeve, G; Vuillaumier-Barrot, S; Vicaut, E; LeMarie, C; Henrion, D; Poirier, O; Levy, BI; Desmonts, JM; Durand, G; Benessiano, J
   G894T polymorphism in the endothelial nitric oxide synthase gene is associated with an enhanced vascular responsiveness to phenylephrine
   CIRCULATION
   
   I. Philip et al., "G894T polymorphism in the endothelial nitric oxide synthase gene is associated with an enhanced vascular responsiveness to phenylephrine", CIRCULATION, 99(24), 1999, pp. 3096-3098