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Results: 1-10 |
Results: 10
Familial amyloidosis
Authors: Grateau, G Valleix, S Delpech, M
Citation: G. Grateau et al., Familial amyloidosis, REV MED IN, 22, 2001, pp. 13S-15S
Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene
Authors: Dighiero, P Niel, F Ellies, P D'Hermies, F Savoldelli, M Renard, G Delpech, M Valleix, S
Citation: P. Dighiero et al., Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene, OPHTHALMOL, 108(4), 2001, pp. 818-823
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu)
Authors: Ellie, E Camou, F Vital, A Rummens, C Grateau, G Delpech, M Valleix, S
Citation: E. Ellie et al., Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu), NEUROLOGY, 57(1), 2001, pp. 135-137
Diagnosis of amyloidosis.
Authors: Grateau, G Lebrazi, H Valleix, S Hachulla, E Delpech, M Saile, R
Citation: G. Grateau et al., Diagnosis of amyloidosis., REV MED IN, 21(6), 2000, pp. 517-523
Avellino corneal dystrophy
Authors: Dighiero, P Ellies, P Valleix, S D'Hermies, F Savoldelli, M Pouliquen, Y Legeais, JM Renard, G
Citation: P. Dighiero et al., Avellino corneal dystrophy, J FR OPHTAL, 23(7), 2000, pp. 735-737
Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L, mutation of the BIGH3 gene
Authors: Dighiero, P Valleix, S D'Hermies, F Drunat, S Ellies, P Savoldelli, M Pouliquen, Y Delpech, M Legeais, JM Renard, G
Citation: P. Dighiero et al., Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L, mutation of the BIGH3 gene, OPHTHALMOL, 107(7), 2000, pp. 1353-1357
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female
Authors: Favier, R Lavergne, JM Costa, JM Garon, C Mazurier, C Viemont, M Delpech, M Valleix, S
Citation: R. Favier et al., Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female, BLOOD, 96(13), 2000, pp. 4373-4375
A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI Gene - R124L and Delta T125-Lambda E126
Authors: Dighiero, P Drunat, S D'Hermies, F Renard, G Delpech, M Valleix, S
Citation: P. Dighiero et al., A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI Gene - R124L and Delta T125-Lambda E126, ARCH OPHTH, 118(6), 2000, pp. 814-818
A new mutation (A546T) of the beta ig-h3 gene responsible for a French lattice corneal dystrophy type IIIA
Authors: Dighiero, P Drunat, S Ellies, P D'Hermies, F Savoldelli, M Legeais, JM Renard, G Delpech, M Grateau, G Valleix, S
Citation: P. Dighiero et al., A new mutation (A546T) of the beta ig-h3 gene responsible for a French lattice corneal dystrophy type IIIA, AM J OPHTH, 129(2), 2000, pp. 248-251
Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice
Authors: Valleix, S Jeanny, JC Elsevier, S Joshi, RL Fayet, P Bucchini, D Delpech, M
Citation: S. Valleix et al., Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice, HUM MOL GEN, 8(7), 1999, pp. 1291-1301
Risultati: 1-10 |