Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide

Autor: Sowmiya, Moorthie, Hannah, Blencowe, Matthew W, Darlison, Joy, Lawn, Joan K, Morris, Bernadette, Modell, A H, Bittles, H, Blencowe, A, Christianson, S, Cousens, M W, Darlison, S, Gibbons, H, Hamamy, B, Khoshnood, C P, Howson, J, Lawn, P, Mastroiacovo, B, Modell, S, Moorthie, J K, Morris, P A, Mossey, A J, Neville, M, Petrou, S, Povey, J, Rankin, L, Schuler-Faccini, C, Wren, K A, Yunnis

Publikováno v: Journal of Community Genetics

Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies to facilitate programme, policy and resource planning, and secondly to identify clusters of cases and any other e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::061e59a0a1e839b758f4a937e95269ca
https://doi.org/10.1007/s12687-018-0384-2

Development of a microsatellite-based approach to co-segregation analysis of familial hypercholesterolaemic kindreds

Autor: L. HADDAD, L. B. DAY, J. ATTWOOD, S. POVEY, S. E. HUMPHRIES, I. N. M. DAY

Publikováno v: Annals of Human Genetics. 61:497-506

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4832547a34056d6f91fc665df8821e16
https://doi.org/10.1017/s0003480097006532

European Gene Mapping Project (EUROGEM): Genetic Maps based on the CEPH reference families

Autor: N.K. Spurr, S.P. Bryant, J. Attwood, K. Nyberg, S.A. Cox, A. Mills, R. Bains, D. Warne, L. Cullin, S. Povey, J.-M. Sebaoun, J. Weissenbach, H.M. Cann, M. Lathrop, J. Dausset, A. Marcadet-Troton, D. Cohen

Publikováno v: European Journal of Human Genetics. 2:193-252

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https://doi.org/10.1159/000472364

Cloning, primary sequence, and chromosomal mapping of a human flavin-containing monooxygenase (FMO1)

Autor: R. L. Smith, Elizabeth A. Shephard, S. Povey, Ian Phillips, Colin N. A. Palmer, Colin T. Dolphin, D. M. Ziegler, R. Ayesh

Publikováno v: University of Dundee
Scopus-Elsevier

cDNA clones that code for a pig and human flavin-containing monooxygenase (FMO) have been isolated. The full-length sequence of the human cDNAs revealed that they encode a polypeptide of 532 amino acid residues containing putative FAD- and NADP-bindi

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https://doi.org/10.1016/s0021-9258(18)98908-8

Contents Vol. 55, 1990

Autor: J. Peters, A. Schinzel, Christopher J. Rawlings, J.L. Mandel, M. Tolley, S. Mercer, B. Byth, M.V. Bell, S. Povey, D. Goudie, N.C. Dracopoli, A. Geurts van Kessel, B.J.B. Keats, I.W. Craig, J. Schmidtke, T. Gedde-Dahl, P. Williamson, C. Junien, E. Solomon, C.J. Rawlings, F. Ricciuti, M. Farrall, S.T. Reeders, M.T Davisson, N.E. Simpson, S.L. Sherman, J. Weissenbach, S. Trumper, D.P. Doolittle, V. Reed, S. Malcolm, D.J. Cockburn, A. Hare, N.K. Spurr, Veronica van Heyningen, D.C. Wallace, R.H.Y. Lam, G.B. van Ommen, A.L. Hillyard, J. Ott, R.L. Nussbaum, J.M. Shoffner, H. Donis-Keller, C.E. Hildebrand, S. Malik, G. Gillett, R. Daniels, F. Mitelman, K.E. Davies, B. Maidak, A.M. Bowcock, J.A. Marshall Graves, P. Pearson, J. Walters, B. Carritt, B.S. Emanuel, T. Doyle, R.E. Lucier, S. Riley, R. Williamson, D. Lindenbaum, Y. Nakamura, J. Borrow, J.M. Trent, T.A. Donlon, C. Jones, A.G. Searle, G.R. Sutherland, L.-C. Tsui, L.C. Stranc, Steve Laval, R.T. Taggart, Sir Walter F. Bodmer, M.T Lott, P. Goodfellow, N. Shimizu, E. Keirnan, Baule, D.T. Bishop, S. Renfrey, M. Leppert, S. Ruddy, M. Barnett, P.J. McAlpine, J.C. Murray, K. Kidd, Y. Kaneko, H.F. Willard, A.P. Monaco, J. Hewitt, Y. Boyd, Z. Chen, H.H. Ropers, H. Cann, C. Boucheix, F. Lewitter, H.S. Chan, S. Ghosh, D.N. Cooper, S.L. Naylor, A. Torroni, C. Porter, G.M. Hampton, C. Westbrook, V. Buckle, M. Chipperfield, T. Morris, M.A. Pericak-Vance, K.H. Grzeschik, J. Frézal, L.L. Field, L. Sefton, W.O. McBride, P.A. Lalley, S.P. Craig, A. Bowcock, R.R. Ali, A. Ziegler, M. Quitt, S.J. O'Brien, D.W. Cox, K. Cooper, M.H. Skolnick, D.R. Cox, M M Le Beau, T.B. Shows, A. Walley, D.H. Ledbetter, K. Gulati, B.R. Seizinger, R. Track, T. Ward, G.A. Bruns, A.Y. Sakaguchi

Publikováno v: Cytogenetic and Genome Research. 55:I-IV

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https://doi.org/10.1159/000132996