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

Yazar: CHEN, J, MERCIER, B, FEREC, C
Baskı/Yayın Bilgisi 1999

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

Yazar: CHEN, J., MERCIER, B., AUDREZET, M., FEREC, C.
Baskı/Yayın Bilgisi 2000

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

Yazar: Audrezet, M P, Mercier, B, Guillermit, H, Ferec, C
Baskı/Yayın Bilgisi 1992

A polymorphism in intron 20 of the CFTR gene

Yazar: Quere, I., Guillermit, H., Mercier, B., Audrezet, M.P., Ferec, C.
Baskı/Yayın Bilgisi 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

Yazar: CHEN, J., RAGUENES, O., FEREC, C., DEPREZ, P., VERELLEN-DUMOULIN, C.
Baskı/Yayın Bilgisi 2000

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

Yazar: Mura, C., Le Gac, G., Scotet, V., Raguenes, O., Mercier, A., Ferec, C.
Baskı/Yayın Bilgisi 2001

Relationship between genotype and phenotype for the CFTR gene W846X mutation

Yazar: Dugueperoux, I, Bellis, G, Ferec, C, Gillet, D, Scotet, V, De Braekeleer, M
Baskı/Yayın Bilgisi 2002

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

Yazar: Verlingue, C, Vuillaumier, S, Mercier, B, Le Gac, M, Elion, J, Férec, C, Denamur, E
Baskı/Yayın Bilgisi 1998

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

Yazar: Lissens, W, Desmyttere, S, Bonduelle, M, Dab, I, Liebaers, I, Mercier, B, Audrezet, M P, Ferec, C
Baskı/Yayın Bilgisi 1993

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

Yazar: RIVARD, S., ALLARD, C., LEBLANC, J., MILOT, M., AUBIN, G., SIMARD, F., FEREC, C., DE BRAEKELEER, M.
Baskı/Yayın Bilgisi 2000

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

Yazar: Mercier, B, Verlingue, C, Lissens, W, Silber, S J, Novelli, G, Bonduelle, M, Audrézet, M P, Férec, C
Baskı/Yayın Bilgisi 1995

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

Yazar: Scotet, V, De Braekeleer, M, Audrezet, M, Quere, I, Mercier, B, Dugueperoux, I, Andrieux, J, Blayau, M, Ferec, C
Baskı/Yayın Bilgisi 2002

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

Yazar: Volant, A, Nousbaum, J B, Giroux, M A, Roué-Quintin, I, Metges, J P, Férec, C, Gouérou, H, Robaszkiewicz, M
Baskı/Yayın Bilgisi 1995

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

Yazar: Sarles, J., Barthellemy, S., Ferec, C., Iovanna, J., Roussey, M., Farriaux, J., Toutain, A., Berthelot, J., Maurin, N., Codet, J., Berthezene, P., Dagorn, J.
Baskı/Yayın Bilgisi 1999

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

Yazar: Morrow, W J, Williams, D J, Ferec, C, Casburn-Budd, R, Isenberg, D A, Paice, E, Snaith, M L, Youinou, P, Le Goff, P
Baskı/Yayın Bilgisi 1983

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

Yazar: 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
Baskı/Yayın Bilgisi 1998

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

Yazar: 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
Baskı/Yayın Bilgisi 1999

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

Yazar: 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
Yayımlandı Neuro Oncol (2019)

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

Yazar: 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.
Baskı/Yayın Bilgisi 2008

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

Yazar: 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.
Baskı/Yayın Bilgisi 2001