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  1. No Access

    Article

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

    We have conducted a large systematic study of 365 cystic fibrosis (CF) chromosomes in a Celtic population from Brittany, France, in which we have been able to identify more than 98% of the cystic fibrosis gene...

    C. Férec, M.P. Audrezet, B. Mercier, H. Guillermit, P. Moullier… in Nature Genetics (1992)

  2. No Access

    Article

    A novel mutation in exon 3 of the CFTR gene

    We have screened the 27 exons of the cystic fibrosis transmembrane conductance regulator gene in 87 non-ΔF508 chromosomes of Breton origin using the combined techniques of denaturing gradient gel electrophores...

    H. Guillermit, M. Jéhanne, I. Quéré, M. P. Audrézet, B. Mercier, C. Férec in Human Genetics (1993)

  3. No Access

    Article

    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

    The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride channel, and in individuals with both alleles of the gene mutated, symptoms of CF disease are manifest. Wit...

    C. Verlingue, B. Mercier, I. Lecoq, M. P. Audrézet, D. Laroche… in Human Genetics (1994)

  4. No Access

    Article

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

    An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Ca...

    B. Mercier, O. Raguénès, X. Estivill, N. Morral, G. C. Kaplan, M. McClure… in Human Genetics (1994)

  5. No Access

    Chapter

    From Blood Stain to Pathogenesis Study of Human Hereditary Diseases

    The development of recombinant DNA techniques has permitted in the past years the map** and cloning of an increasing number of genes responsible for human heriditable diseases. The analysis of the molecular ...

    C. Férec, B. Mercier, M. P. Audrezet in Hereditary Diseases and Blood Transfusion (1995)

  6. No Access

    Article

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

    We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if nece...

    C. Férec, C. Verlingue, P. Parent, J. F. Morin, J. P. Codet, G. Rault… in Human Genetics (1995)

  7. No Access

    Article

    Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations

    Newborn screening (NBS) of cystic fibrosis (CF) was implemented throughout the whole of France in 2002, but it had been established earlier in three western French regions. It can reveal atypical CF with one o...

    M. Roussey, A. Le Bihannic, V. Scotet… in Journal of Inherited Metabolic Disease (2007)

  8. No Access

    Article

    P4.05: Polycystin Deficiency Results in Complete Loss of No Synthesis During Sustained Flow-Mediated Dilatation of Conduit Arteries in Autosomal Dominant Polycystic Kidney Disease: Possible Reversal by Dopamine

    Autosomal dominant polycystic kidney disease (ADPKD) is due to mutations in genes PKD1 and PKD2 encoding polycystin-1 and -2, which transduce flow variations into cellular signals in the renal epithelium but a...

    A. Lorthioir, R. Joannidès, I. Rémy-Jouet, C. Fréguin-Bouilland… in Artery Research (2013)