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1-15
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Results: 15
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
Authors:
Amaral, MD
Pacheco, P
Beck, S
Farinha, CM
Penque, D
Nogueira, P
Barreto, C
Lopes, B
Casals, T
Dapena, J
Gartner, S
Vasquez, C
Perez-Frias, J
Olveira, C
Cabanas, R
Estivill, X
Tzetis, M
Kanavakis, E
Doudounakis, S
Dork, T
Tummler, B
Girodon-Boulandet, E
Cazeneuve, C
Goossens, M
Blayau, M
Verlingue, C
Vieira, I
Ferec, C
Claustres, M
des Georges, M
Clavel, C
Birembaut, P
Hubert, D
Bienvenu, T
Adoun, M
Chomel, JC
De Boeck, K
Cuppens, H
Lavinha, J
Citation: Md. Amaral et al., Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study, J MED GENET, 38(11), 2001, pp. 777-782
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
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France
Authors:
Claustres, M
Guittard, C
Bozon, D
Chevalier, F
Verlingue, C
Ferec, C
Girodon, E
Cazeneuve, C
Bienvenu, T
Lalau, G
Dumur, V
Feldmann, D
Bieth, E
Blayau, M
Clavel, C
Creveaux, I
Malinge, MC
Monnier, N
Malzac, P
Mittre, H
Chomel, JC
Bonnefont, JP
Iron, A
Chery, M
Des Georges, M
Citation: M. Claustres et al., Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France, HUM MUTAT, 16(2), 2000, pp. 143-156
Authors:
Girodon-Boulandet, E
Cazeneuve, C
Goossens, M
Citation: E. Girodon-boulandet et al., Screening practices for mutations in the CFTR gene ABCC7, HUM MUTAT, 15(2), 2000, pp. 135-149
Authors:
Papin, S
Duquesnoy, P
Cazeneuve, C
Pantel, J
Coppey-Moisan, M
Dargemont, C
Amselem, S
Citation: S. Papin et al., Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus, HUM MOL GEN, 9(20), 2000, pp. 3001-3009
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
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
Authors:
Hezode, C
Cazeneuve, C
Coue, O
Roudot-Thoraval, F
Pawlotsky, JM
Zafrani, ES
Amselem, S
Dhumeaux, D
Citation: C. Hezode et al., Hemochromatosis C282Y mutation and histological fibrosis in patients with C virus chronic hepatitis, HEPATOLOGY, 29(4), 1999, pp. 1338-1338
Authors:
Hezode, C
Cazeneuve, C
Coue, O
Roudot-Thoraval, F
Lonjon, I
Bastie, A
Duvoux, C
Pawlotsky, JM
Zafrani, ES
Amselem, S
Dhumeaux, D
Citation: C. Hezode et al., Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions, J HEPATOL, 31(6), 1999, pp. 979-984
Authors:
Castaldo, G
Fuccio, A
Cazeneuve, C
Picci, L
Salvatore, D
Raia, V
Scarpa, M
Goossens, M
Salvatore, F
Citation: G. Castaldo et al., Detection of five rare cystic fibrosis mutations peculiar to southern Italy: Implications in screening for the disease and phenotype characterizationfor patients with homozygote mutations, CLIN CHEM, 45(7), 1999, pp. 957-962
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
Authors:
Danan, C
Sternberg, D
Van Steirteghem, A
Cazeneuve, C
Duquesnoy, P
Besmond, C
Goossens, M
Lissens, W
Amselem, S
Citation: C. Danan et al., Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection, AM J HU GEN, 65(2), 1999, pp. 463-473
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
Authors:
Des Georges, M
Guittard, C
Bozon, D
Chevalier, F
Verlingue, C
Ferec, C
Girodon, E
Cazeneuve, C
Bienvenu, T
Lalau, G
Dumur, V
Feldmann, D
Bieth, E
Blayau, M
Clavel, C
Creveaux, I
Malinge, MC
Monnier, N
Malzac, P
Mittre, H
Bonnefont, JP
Iron, A
Chomel, JC
Chery, M
Claustres, M
Citation: M. Des Georges et al., Molecular basis of cystic fibrosis in France: more than 300 different mutations and 506 genotypes are involved, M S-MED SCI, 14(12), 1998, pp. 1413-1421
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