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Results: 1-25 | 26-39
Results: 1-25/39
Interleukin 1 gene cluster polymorphisms in multiplex families with spondylarthropathies
Authors: Djouadi, K Nedelec, B Tamouza, R Genin, E Ramasawmy, R Charron, D Delpech, M Laoussadi, S
Citation: K. Djouadi et al., Interleukin 1 gene cluster polymorphisms in multiplex families with spondylarthropathies, CYTOKINE, 13(2), 2001, pp. 98-103
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
Authors: Cuisset, L Drenth, JP Simon, A Vincent, MF Visser, SV van der Meer, JWM Grateau, G Delpech, M
Citation: L. Cuisset et al., Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome, EUR J HUM G, 9(4), 2001, pp. 260-266
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Creek orthodoxes, Creek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M6941 mutations
Authors: Mansour, I Delague, V Cazeneuve, C Dode, C Chouery, E Pecheux, C Medlej-Hashim, M Salem, N El Zein, L Levan-Petit, I Lefranc, G Goossens, M Delpech, M Amselem, S Loiselet, J Grateau, G Megarbane, A Naman, R
Citation: I. Mansour et al., Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Creek orthodoxes, Creek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M6941 mutations, EUR J HUM G, 9(1), 2001, pp. 51-55
Genetically determined recurrent fevers
Authors: Delpech, M Grateau, G
Citation: M. Delpech et G. Grateau, Genetically determined recurrent fevers, CURR OP IM, 13(5), 2001, pp. 539-542
From protein to amyloid deposit
Authors: Delpech, M
Citation: M. Delpech, From protein to amyloid deposit, REV MED IN, 22, 2001, pp. 8S-9S
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
Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid communication
Authors: Jadoul, M Dode, C Cosyns, JP Abramowicz, D Georges, B Delpech, M Pirson, Y
Citation: M. Jadoul et al., Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid communication, KIDNEY INT, 59(5), 2001, pp. 1677-1682
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
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: Its application as a diagnostic tool
Authors: Simon, A Cuisset, L Vincent, MF van der Velde-Visser, SD Delpech, M van der Meer, JWM Drenth, JPH
Citation: A. Simon et al., Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: Its application as a diagnostic tool, ANN INT MED, 135(5), 2001, pp. 338-343
Clinical versus genetic diagnosis of familial Mediterranean fever
Authors: Grateau, G Pecheux, C Cazeneuve, C Cattan, D Dervichian, M Goossens, M Delpech, M Amselem, S Dode, C
Citation: G. Grateau et al., Clinical versus genetic diagnosis of familial Mediterranean fever, QJM-MON J A, 93(4), 2000, pp. 223-229
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
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
Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
Authors: Dode, C Pecheux, C Cazeneuve, C Cattan, D Dervichian, M Goossens, M Delpech, M Amselem, S Grateau, G
Citation: C. Dode et al., Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever, AM J MED G, 92(4), 2000, pp. 241-246
Nucleotide sequence of the bla(RTG-2) (CARB-5) gene and phylogeny of a newgroup of carbenicillinases
Authors: Choury, D Szajnert, MF Joly-Guillou, ML Azibi, K Delpech, M Paul, G
Citation: D. Choury et al., Nucleotide sequence of the bla(RTG-2) (CARB-5) gene and phylogeny of a newgroup of carbenicillinases, ANTIM AG CH, 44(4), 2000, pp. 1070-1074
The physics of plutonium fuels - A review of organization for economic cooperation and development/nuclear energy agency activities
Authors: Hesketh, K Delpech, M Sartori, E
Citation: K. Hesketh et al., The physics of plutonium fuels - A review of organization for economic cooperation and development/nuclear energy agency activities, NUCL TECH, 131(3), 2000, pp. 385-394
Comparisons of cell calculations for uranium-free light water reactor fuels
Authors: Paratte, JM Akie, H Chawla, R Delpech, M Kloosterman, JL Lombardi, C Mazzola, A Pelloni, S Peneliau, Y Takano, H
Citation: Jm. Paratte et al., Comparisons of cell calculations for uranium-free light water reactor fuels, NUCL TECH, 130(2), 2000, pp. 159-176
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 missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family
Authors: Dode, C Papo, T Fieschi, C Pecheux, C Dion, E Picard, F Godeau, P Bienvenu, J Piette, JC Delpech, M Grateau, G
Citation: C. Dode et al., A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family, ARTH RHEUM, 43(7), 2000, pp. 1535-1542
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
Solutions analyzed: Improvements and innovative options - Improvements in the current cycle
Authors: Delpech, M
Citation: M. Delpech, Solutions analyzed: Improvements and innovative options - Improvements in the current cycle, ANN PHYSIQ, 25(2), 2000, pp. 227-240
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
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
Authors: Drenth, JPH Cuisset, L Grateau, G Vasseur, C van de Velde-Visser, SD de Jong, JGN Beckmann, JS van der Meer, JWM Delpech, M
Citation: Jph. Drenth et al., Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome, NAT GENET, 22(2), 1999, pp. 178-181
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
The familial Mediterranean fever: perspectives from discovery of the casual gene
Authors: Delpech, M Grateau, G
Citation: M. Delpech et G. Grateau, The familial Mediterranean fever: perspectives from discovery of the casual gene, ARCH PED, 6(9), 1999, pp. 931-934
Risultati: 1-25 | 26-39