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Results: 1-24 |
Results: 24
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
Recurrent hereditary fever in the era of molecular biology
Authors: Mery, JP Dode, C Grateau, G
Citation: Jp. Mery et al., Recurrent hereditary fever in the era of molecular biology, M S-MED SCI, 17(10), 2001, pp. 1008-1016
Familial amyloidosis
Authors: Grateau, G Valleix, S Delpech, M
Citation: G. Grateau et al., Familial amyloidosis, REV MED IN, 22, 2001, pp. 13S-15S
Pseudotumoral clinical presentation of a case of uveal effusion
Authors: Halhal, M D'Hermies, F Berges, O Chauvaud, D Bertin, S Grateau, G Renard, G
Citation: M. Halhal et al., Pseudotumoral clinical presentation of a case of uveal effusion, J FR OPHTAL, 24(5), 2001, pp. 505-508
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
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
Amyloidosis physiopathology
Authors: Grateau, G
Citation: G. Grateau, Amyloidosis physiopathology, JOINT BONE, 67(3), 2000, pp. 164-170
The relation between familial Mediterranean fever and amyloidosis
Authors: Grateau, G
Citation: G. Grateau, The relation between familial Mediterranean fever and amyloidosis, CURR OP RH, 12(1), 2000, pp. 61-64
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
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
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 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
Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever
Authors: Cazeneuve, C Ajrapetyan, H Papin, S Roudot-Thoraval, F Genevieve, D Mndjoyan, E Papazian, M Sarkisian, A Babloyan, A Boissier, B Duquesnoy, P Kouyoumdjian, JC Girodon-Boulandet, E Grateau, G Sarkisian, T Amselem, S
Citation: C. Cazeneuve et al., Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever, AM J HU GEN, 67(5), 2000, pp. 1136-1143
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
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
Corneal distrophies: a modern review
Authors: Dighiero, P Ellies, P Grateau, G D'Hermies, F Pouliquen, Y Legeais, JM Renard, G
Citation: P. Dighiero et al., Corneal distrophies: a modern review, J FR OPHTAL, 22(2), 1999, pp. 226-233
French Society for Human Genetics. "Genetics in Practice" Commission. Corescientific data of use in genetic counseling. Familial Mediterranean fever.
Authors: Cazeneuve, C Dode, C Delpech, M Touitou, I Grateau, G Amselem, S
Citation: C. Cazeneuve et al., French Society for Human Genetics. "Genetics in Practice" Commission. Corescientific data of use in genetic counseling. Familial Mediterranean fever., ANN GENET, 42(4), 1999, pp. 241-245
Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1
Authors: Asl, LH Liepnieks, JJ Asl, KH Uemichi, T Moulin, G Desjoyaux, E Loire, R Delpech, M Grateau, G Benson, MD
Citation: Lh. Asl et al., Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1, AM J PATH, 154(1), 1999, pp. 221-227
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44
Authors: Cuisset, L Drenth, JPH Berthelot, JM Meyrier, A Vaudour, G Watts, RA Scott, DGI Nicholls, A Pavek, S Vasseur, C Beckmann, JS Delpech, M Grateau, G
Citation: L. Cuisset et al., Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44, AM J HU GEN, 65(4), 1999, pp. 1054-1059
MEFV-gene analysis in Armenian patients with familial Mediterranean fever:Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype - Genetic and therapeutic implications
Authors: Cazeneuve, C Sarkisian, T Pecheux, C Dervichian, M Nedelec, B Reinert, P Ayvazyan, A Kouyoumdjian, JC Ajrapetyan, H Delpech, M Goossens, M Dode, C Grateau, G Amselem, S
Citation: C. Cazeneuve et al., MEFV-gene analysis in Armenian patients with familial Mediterranean fever:Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype - Genetic and therapeutic implications, AM J HU GEN, 65(1), 1999, pp. 88-97
Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family
Authors: Asl, LH Fournier, V Billerey, C Justrabo, E Chevet, D Droz, D Pecheux, C Delpech, M Grateau, G
Citation: Lh. Asl et al., Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family, AMYLOID, 5(4), 1998, pp. 279-284
A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis
Authors: Dupuy, O Bletry, O Blanc, AS Droz, D Viemont, M Delpech, M Grateau, G
Citation: O. Dupuy et al., A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis, AMYLOID, 5(4), 1998, pp. 285-287
Risultati: 1-24 |