Strong evidence that the N21I substitution in the cationic trypsinogen gene causes disease in hereditary pancreatitis

Por CHEN, J, MERCIER, B, FEREC, C
Publicado em 1999

Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis

Por CHEN, J., MERCIER, B., AUDREZET, M., FEREC, C.
Publicado em 2000

A mutation in exon 7 of the CFTR gene is common in the western part of France.

Por Audrezet, M P, Mercier, B, Guillermit, H, Ferec, C
Publicado em 1992

A polymorphism in intron 20 of the CFTR gene

Por Quere, I., Guillermit, H., Mercier, B., Audrezet, M.P., Ferec, C.
Publicado em 1991

A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

Por CHEN, J., RAGUENES, O., FEREC, C., DEPREZ, P., VERELLEN-DUMOULIN, C.
Publicado em 2000

Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

Por Mura, C., Le Gac, G., Scotet, V., Raguenes, O., Mercier, A., Ferec, C.
Publicado em 2001

Relationship between genotype and phenotype for the CFTR gene W846X mutation

Por Dugueperoux, I, Bellis, G, Ferec, C, Gillet, D, Scotet, V, De Braekeleer, M
Publicado em 2002

Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients.

Por Verlingue, C, Vuillaumier, S, Mercier, B, Le Gac, M, Elion, J, Férec, C, Denamur, E
Publicado em 1998

Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.

Por Lissens, W, Desmyttere, S, Bonduelle, M, Dab, I, Liebaers, I, Mercier, B, Audrezet, M P, Ferec, C
Publicado em 1993

Correlation between mutations and age in cystic fibrosis in a French Canadian population

Por RIVARD, S., ALLARD, C., LEBLANC, J., MILOT, M., AUBIN, G., SIMARD, F., FEREC, C., DE BRAEKELEER, M.
Publicado em 2000

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Por Mercier, B, Verlingue, C, Lissens, W, Silber, S J, Novelli, G, Bonduelle, M, Audrézet, M P, Férec, C
Publicado em 1995

Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies

Por Scotet, V, De Braekeleer, M, Audrezet, M, Quere, I, Mercier, B, Dugueperoux, I, Andrieux, J, Blayau, M, Ferec, C
Publicado em 2002

p53 protein accumulation in oesophageal squamous cell carcinomas and precancerous lesions.

Por Volant, A, Nousbaum, J B, Giroux, M A, Roué-Quintin, I, Metges, J P, Férec, C, Gouérou, H, Robaszkiewicz, M
Publicado em 1995

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis

Por Sarles, J., Barthellemy, S., Ferec, C., Iovanna, J., Roussey, M., Farriaux, J., Toutain, A., Berthelot, J., Maurin, N., Codet, J., Berthezene, P., Dagorn, J.
Publicado em 1999

The use of C3d as a means of monitoring clinical activity in systemic lupus erythematosus and rheumatoid arthritis.

Por Morrow, W J, Williams, D J, Ferec, C, Casburn-Budd, R, Isenberg, D A, Paice, E, Snaith, M L, Youinou, P, Le Goff, P
Publicado em 1983

Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

Por Muller, F, Dommergues, M, Simon-Bouy, B, Ferec, C, Oury, J F, Aubry, M C, Bessis, R, Vuillard, E, Denamur, E, Bienvenu, T, Serre, J L
Publicado em 1998

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

Por Ferec, C, Raguenes, O, Salomon, R, Roche, C, Bernard, J, Guillot, M, Quere, I, Faure, C, Mercier, B, Audrezet, M, Guillausseau, P, Dupont, C, Munnich, A, Bignon, J, Le Bodic, L
Publicado em 1999

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Por Castellani, C., Cuppens, H., Macek, M., Cassiman, J.J., Kerem, E., Durie, P., Tullis, E., Assael, B.M., Bombieri, C., Brown, A., Casals, T., Claustres, M., Cutting, G.R., Dequeker, E., Dodge, J., Doull, I., Farrell, P., Ferec, C., Girodon, E., Johannesson, M., Kerem, B., Knowles, M., Munck, A., Pignatti, P.F., Radojkovic, D., Rizzotti, P., Schwarz, M., Stuhrmann, M., Tzetis, M., Zielenski, J., Elborn, J.S.
Publicado em 2008

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

Por Amaral, M., Pacheco, P., Beck, S., Farinha, C., 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., Georges, M. d., Clavel, C., Birembaut, P., Hubert, D., Bienvenu, T., Adoun, M., Chomel, J., De Boeck, K., Cuppens, H., Lavinha, J.
Publicado em 2001