C. Verlingue

发表

Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac‐Saint‐Jean (Quebec, Canada)

C. Férec, M. Braekeleer, C. Allard, 1998, Clinical genetics.

HLA class II genes polymorphism in DR4 giant cell arteritis patients.

J. Muller, J. Bignon, J. Saleun, 1988, Tissue antigens.

A cluster ofcystic fibrosis mutations inexon 17boftheCFTR gene:a site forrare

X. Estivill, L. Kalaydjieva, G. Novelli, 1994 .

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

G. Novelli, C. Férec, W. Lissens, 1995, American journal of human genetics.

Genotype analysis of adult cystic fibrosis patients.

C. Férec, M. Audrézet, B. Mercier, 1993, Human molecular genetics.

Complete detection of mutations in cystic fibrosis patients of Native American origin

X. Estivill, P. Pignatti, C. Férec, 1994, Human Genetics.

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

M Claustres, W Lissens, X. Estivill, 1995, The New England journal of medicine.

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

C. Férec, M. Audrézet, B. Mercier, 1995, Human Genetics.

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

C. Clavel, M. Claustres, C. Férec, 2000, Human mutation.

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

X. Estivill, J. Zieleński, T. Dörk, 2000, Human Genetics.

Distribution of CFTR Mutations in Cystic Fibrosis Patients of Tunisian Origin: Identification of Two Novel Mutations

E. Denamur, C. Férec, J. Elion, 1996, European journal of human genetics : EJHG.

Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis

C. Férec, M. Audrézet, B. Mercier, 2001, Clinical genetics.

Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

C. Férec, A. Chaventré, M. Audrézet, 2000, The Lancet.

Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis?

C. Férec, M. Audrézet, B. Mercier, 1993, Prenatal diagnosis.

Detection of over 98% cystic fibrosis mutations in a Celtic population

C. Férec, M. Audrézet, B. Mercier, 1992, Nature Genetics.

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

E. Denamur, C. Férec, J. Elion, 1998, Journal of medical genetics.

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

E. Denamur, C. Férec, J. Elion, 2022 .

Neonatal Screening for Cystic Fibrosis in Brittany, France: Assessment of 10 Years’ Experience and Impact on Prenatal Diagnosis

C. Férec, A. Chaventré, M. Audrézet, 2001 .

Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: Identification of three novel alleles

C. Férec, M. Audrézet, B. Mercier, 1995, Human mutation.

Identification of 12 novel mutations in the CFTR gene.

C. Férec, M. Audrézet, B. Mercier, 1993, Human molecular genetics.

Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany

G. Bertorelle, C. Férec, A. Chaventré, 1996, Human Genetics.

Association of 1078 del T cystic fibrosis mutation with severe disease.

M. Audrézet, B. Mercier, I. Quéré, 1994, Journal of medical genetics.

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

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of medical genetics.

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

B. Dallapiccola, G. Novelli, C. Férec, 1995, Molecular and cellular probes.

Screening for cystic fibrosis in dried blood spots of newborns.

C. Férec, M. Audrézet, B. Mercier, 1993, Molecular and cellular probes.

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis

C. Férec, M. Audrézet, B. Mercier, 1994, Human Genetics.

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

Arie, X. Estivill, atherine, 1995, The New England journal of medicine.

Identification of three novel mutations (457 TAT→G, D192G, Q685X) in the Slovenian CF patients

C. Férec, M. Audrézet, B. Mercier, 1994, Human Genetics.

Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140

C. Clavel, P. Birembaut, C. Férec, 1997 .

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

X. Estivill, T. Dörk, C. Clavel, 2001 .

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of Medical Genetics.

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 +1 G→A

C. Férec, B. Mercier, I. Quéré, 1994, Human mutation.

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 +1 G→A

C. Férec, B. Mercier, I. Quéré, 1994, Human Mutation.

Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.

B. Dallapiccola, G. Lenoir, L. Kalaydjieva, 1993, Genomics.