Items where Author is "Férec, C"

Journal article

QUEMENER, S., CHEN, J.M., CHUZHANOVA, N., BÉNECH, C., CASALS, T., MACEK, M., BIENVENU, T., MCDEVITT, T., FARRELL, P.M., LOUMI, O., MESSAOUD, T., CUPPENS, H., CUTTING, G.R., STENSON, P.D., GITEAU, K., AUDRÉZET, M.P., COOPER, D.N. and FÉREC, C., 2010. Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Human Mutation, 31, pp. 421-428.

MASSON, E., LE, M., LEVY, P., CHUZHANOVA, N., COOPER, D.N., CHEN, J.M. and FÉREC, C., 2007. Coinheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Molecular Genetics and Metabolism, 92, pp. 168-175.

CHEN, J.M., FÉREC, C., CHUZHANOVA, N., COOPER, D.N. and PATRINOS, G.P., 2007. Gene conversion in evolution and disease. Nature Reviews Genetics, 8, pp. 762-775.

FÉREC, C., CASALS, T. and CHUZHANOVA, N., 2006. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of their underlying mechanisms. European Journal of Human Genetics, 14, pp. 567-576.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Complex gene rearrangements caused by serial replication slippage. Human Mutation, 26, pp. 125-134.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Human Mutation, 26, pp. 362-374.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Human Mutation, 25, pp. 207-221.

AUDRÉZET, M.P., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., LE, M., QUÉRÉ, I., COOPER, D.N. and FÉREC, C., 2004. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Human Mutation, 23, pp. 343-357.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2004. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. Human Mutation (Mutation in Brief) (683).

FÉREC, C., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., EL, M., LE, M., QUÉRÉ, I. and AUDRÉZET, M.P., 2003. Rapid screening of large genomic rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene by Quantitative Multiplex Polymerase Chain Reaction of Short Fluorescent Fragments (QMPSF) analysis: high detection rate and diverse mutational mechanisms. American Journal of Human Genetics, 73 (5), p. 559.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2003. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. American Journal of Human Genetics, 73 (5), p. 565.