Items where Author is "Stenson, PD"

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Number of items: 7.

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.

COOPER, D.N., MORT, M., STENSON, P.D., BALL, E.V. and CHUZHANOVA, N.A., 2010. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides as well as in CpG dinucleotides. Human Genomics, 4, pp. 406-410.

COOPER, D.N., STENSON, P.D. and CHUZHANOVA, N.A., 2006. The Human Gene Mutation Database (HGMD®) and its exploitation in the study of mutational mechanisms. Current Protocols in Bioinformatics, 1 (13), pp. 1-20.

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.

BALL, E.V., STENSON, P.D., KRAWCZAK, M., COOPER, D.N. and CHUZHANOVA, N., 2005. Micro-deletions and micro-insertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation, 26, pp. 205-213.

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