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

द्वारा CHEN, J, MERCIER, B, FEREC, C
प्रकाशित 1999

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

द्वारा CHEN, J., MERCIER, B., AUDREZET, M., FEREC, C.
प्रकाशित 2000

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

द्वारा Audrezet, M P, Mercier, B, Guillermit, H, Ferec, C
प्रकाशित 1992

A polymorphism in intron 20 of the CFTR gene

द्वारा Quere, I., Guillermit, H., Mercier, B., Audrezet, M.P., Ferec, C.
प्रकाशित 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

द्वारा CHEN, J., RAGUENES, O., FEREC, C., DEPREZ, P., VERELLEN-DUMOULIN, C.
प्रकाशित 2000

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

द्वारा Mura, C., Le Gac, G., Scotet, V., Raguenes, O., Mercier, A., Ferec, C.
प्रकाशित 2001

Relationship between genotype and phenotype for the CFTR gene W846X mutation

द्वारा Dugueperoux, I, Bellis, G, Ferec, C, Gillet, D, Scotet, V, De Braekeleer, M
प्रकाशित 2002

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

द्वारा Verlingue, C, Vuillaumier, S, Mercier, B, Le Gac, M, Elion, J, Férec, C, Denamur, E
प्रकाशित 1998

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

द्वारा Lissens, W, Desmyttere, S, Bonduelle, M, Dab, I, Liebaers, I, Mercier, B, Audrezet, M P, Ferec, C
प्रकाशित 1993

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

द्वारा RIVARD, S., ALLARD, C., LEBLANC, J., MILOT, M., AUBIN, G., SIMARD, F., FEREC, C., DE BRAEKELEER, M.
प्रकाशित 2000

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

द्वारा Mercier, B, Verlingue, C, Lissens, W, Silber, S J, Novelli, G, Bonduelle, M, Audrézet, M P, Férec, C
प्रकाशित 1995

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

द्वारा Scotet, V, De Braekeleer, M, Audrezet, M, Quere, I, Mercier, B, Dugueperoux, I, Andrieux, J, Blayau, M, Ferec, C
प्रकाशित 2002

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

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

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

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

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

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

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

द्वारा 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
प्रकाशित 1998

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

द्वारा 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
प्रकाशित 1999

P04.12 Characteristics of IDH-mutant gliomas with non-canonical IDH mutations

द्वारा Poetsch, L, Dehais, C, Frénel, J, Siegfried, A, Lacomme, S, Seizeur, R, Larrieu-Ciron, D, Cappellen, D, Loussouarn, D, Ferec, C, Eimer, S, Carpentier, C, Sanson, M, Delattre, J, Figarella-Branger, D, Ducray, F, Bronnimann, C
में प्रकाशित Neuro Oncol (2019)

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

द्वारा 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.
प्रकाशित 2008

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

द्वारा 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.
प्रकाशित 2001