AAAAAA

   
Results: 1-8 |
Results: 8
The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic
Authors: Vuillaumier-Barrot, S Le Bizec, C Durand, G Seta, N
Citation: 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
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
Authors: 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
Citation: 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
"Carbohydrate-deficient glycoprotein" syndrome.
Authors: de Lonlay, P Cormier-Daire, V Vuillaumier-Barrot, S Cuer, M Durand, G Munnich, A Saudubray, JM Seta, N
Citation: P. De Lonlay et al., "Carbohydrate-deficient glycoprotein" syndrome., ARCH PED, 7(2), 2000, pp. 173-184
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
Authors: Vuillaumier-Barrot, S Hetet, G Barnier, A Dupre, T Cuer, M de Lonlay, P Cormier-Daire, V Durand, G Grandchamp, B Seta, N
Citation: 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
Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism
Authors: Cormier-Daire, V Amiel, J Vuillaumier-Barrot, S Tan, J Durand, G Munnich, A Le Merrer, M Seta, N
Citation: 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
The deletion genotype of the angiotensin I-converting enzyme is associatedwith an increased vascular reactivity in vivo and in vitro
Authors: 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
Citation: 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
Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
Authors: de Lonlay, P Cuer, M Vuillaumier-Barrot, S Beaune, G Castelnau, P Kretz, M Durand, G Saudubray, JM Seta, N
Citation: 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
G894T polymorphism in the endothelial nitric oxide synthase gene is associated with an enhanced vascular responsiveness to phenylephrine
Authors: Philip, I Plantefeve, G Vuillaumier-Barrot, S Vicaut, E LeMarie, C Henrion, D Poirier, O Levy, BI Desmonts, JM Durand, G Benessiano, J
Citation: 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
Risultati: 1-8 |