M Keston

Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes

P. A. Jacobs, Terry Hassold, E. Whittington et al. · Annals of Human Genetics · 1988 · 152 citations

Life Sciences, Genetics, Molecular Genetics +17

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

Ada Hamosh, T M King, Beryl J. Rosenstein et al. · PubMed · 1992 · 91 citations

Life Sciences, Genetics, Molecular Genetics +14

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

Lucy R. Osborne, George Santis, Martin Schwarz et al. · Human Genetics · 1992 · 79 citations

Life Sciences, Genetics, Molecular Genetics +13

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

Cheryl T. Jones, lain Mclntosh, M Keston et al. · Human Molecular Genetics · 1992 · 64 citations

Life Sciences, Genetics, Molecular Genetics +17

Variation of Sweat Sodium and Chloride with Age in Cystic Fibrosis and Normal Populations: Further Investigations in Equivocal Cases

J M Kirk, M Keston, Iain McIntosh et al. · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · 1992 · 53 citations · Full text

Medicine, Genetics, Pediatrics +14