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  1. 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)

  2. 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)

  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

    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)