Limb abnormalities and chorion villus sampling

Autor: Helen V. Firth, R.H. Lindenbaum, P A Boyd, P. Chamberlain, I. Z. Mackenzie, S. M. Huson

Publikováno v: The Lancet. 338:51

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::189f2d102e92a14edfc069088d5998ed
https://doi.org/10.1016/0140-6736(91)90036-o

Contents, Vol. 22, 1978

Autor: N.E. Morton, P. Pierce, K. Simola, C.E. Wright, E.J. Yunis, M.E. Chandler, H. Vriesendorp, B.J.B. Keats, C.J. Sherr, K. Bender, R.E. Magenis, H. Oie, B.B. Knowles, J.M. Luciani, M.P. Cowmeadow, I.L. Hansteen, M. Bobrow, G.A. Koch, M. Prensky, P.A. Lalley, N. Shimizu, E.A. Nichols, J. Garver, K. Hirschhorn, A. Brøgger, A.F. Gazdar, S. Hempfling, L.C. Yu, B. Pernis, R. Mausner, S. Leupe-de Smit, R.C.P. Go, A. Westerveld, L. R. Weitkamp, K.E. Toomey, D. Borgaonkar, S. Piomelli, D. Bootsma, T. Campana, E.W. Lovrien, O.J. Miller, H.J. Cooke, F.T. Kao, D.A. Aitken, S. Burgess, L.L. Haley, Y. Boyd, A. Mayerová, T.B. Shows, H.J. Evans, J. Fraisse, K.-H. Grzeschik, V.M. Regina, K.C. Atwood, L.M.M. Wijnen, Liao Law, H.-H. Ropers, M.A. Ferguson-Smith, M.A. Pellegrino, T. Gedde-Dahl, V.A. McKusick, A.C. Leary, J. H. Olving, M.G. Byers, D. Swallow, K.M. Overton, W.F. Witterland, J. Hemmerling, S.J. Funderburk, A. de la Chapelle, N.R. Mendell, U. Francke, Veronica van Heyningen, A.F. Naylor, I.W. Craig, A. Heiberg, R.S. Lemons, J.E. Gray, E. Herbschleb-Voogt, J.J. Yunis, D.B. Amos, C.K. Eun, J.L. Hamerton, L. U. Lamm, N. Oliver, S. Goodnight, F. Pellett, T.M. Dijksman, J.M. Vance, R.E. Eisenman, P. Rubinstein, A. Bratlie, G.A.P. Bruns, V. Kirton, R. Roos, D.L. Slate, M.C. Yoshida, D.L. George, R.C. Schwartz, K.E. Buckton, A.S. Henderson, R. Jonassen, J.A. Robinson, P.L. Pearson, M. Hultén, E. Solomon, A.E. Greene, L.Y. Wang, R. Lange, S. Brown, M.L. Schroeder, P. Karli, A. Krüger, J.M. Robert, B. Lauras, J. Chamberlin, A. Shalev, J. Ott, B.J. Mintz, Elizabeth B. Robson, Per Teisberg, N. Tanigaki, P. M. Conneally, S. Rosenfeld, A.S. Baim, M.L. Rivas, J.A. Brown, R. Johannsmann, N. Suciu-Foca, R. Mierau, T.T. Puck, C.G. Palmer, S.J. Jeremiah, D. Warburton, M. Devictor-Vuillet, J.A. Norton, T. Ho, J.E. Noades, F. Varricchio, E.H.Y. Chu, B. Carritt, R. Schwab, I. Balazs, J. Reiss, C.N. Fear, S. Povey, Erik Thorsby, A. Siverts, D.W. Ball, W. Stanley, L.R. Weitkamp, M.E. Duncan, C. Jones, K. Willecke, S. Philipps, R. Moreland, D.C. Rao, E. Tolley, T. Philip, E. Johnston, M. Monteba-van Heuvel, A.D. Merritt, T.H. Roderick, R.L. Eddy, S. Arias, R.A. Fisher, M.A. Craft, J.H. Edwards, M.C. Sparkes, N.C. Sun, L. Korsnes, D.A. Meyers, M.Y. Tsai, A.W. Johnston, A. Estop, B.M. Turner, K. Berg, S. Guttormsen, W.G. Burgerhout, A.P. Goggin, T. Mohandas, W.K. Stanford, C.W. Bazinet, M. Siniscalco, R.H. Lindenbaum, H.P. Klinger, W.S. Volkers, J. Gavin, K.K. Namboodiri, M.T. Davisson, P.J. McAlpine, W.R.T. Los, M. Meisler, L.J. Donald, F.H. Ruddle, W. Bauch, Timothy A. Donlon, C.R.Y. Sun, R. Bigley, R.S. Sparkes, H. Kaita, P.S. Gerald, E.R. Giblett, I. Berczi, R.C. Elston, S.J. O’Brien, C.T. Falk, L. Scrafford-Wolff, M. Smith, M.K. Fagerhol, J. de Witt, S. Rowe, D. Cox, E.S. Seravalli, T. Borun, M. Lewis, R. Saisson, M.A. Pericak-Vance, R.T. Taggart, R.D.G. McKay, M. Mota, W. R. Mayr, Matthew Parks, F. Freycon, Y. Shimizu, B. Hellkuhl, D.P. Aden, C.A. Slaughter, J.E. Anderson, E. Lovrien, R.M. Denney, N. Lamvik, J. Parekh, B.P. Dorman, A.P.M. Jongsma, M.A. Nijman, C. Verma, J. Wood, M.J. Champion, R. Sanger, A. Bennick, P.L. Yu, A.F. Wilson, W.L. Marsh, L. Pajunen, H. Hameister, B.A. Doppert, J.J. Garver, J.R. Sawyer, P. Meera Khan, P.J.L. Cook, Bjørnar Olaisen, R.C. Karn, J.D. Minna, J.D. Shulkin, B.M. Page, P.M. Sinet, B. Sykes, E.M. Helveston, C.W.H. Partridge, M. Blumenthal, P. Szabo, E.A. Azen

Publikováno v: Cytogenetic and Genome Research. 22:I-XIV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::06ac8262c88a2c86e66a1a3c708f6e96
https://doi.org/10.1159/000130915

Subject Index Vol. 22, 1978

Autor: S.J. Funderburk, J.E. Gray, G.A. Koch, L. Korsnes, A.S. Henderson, W.R.T. Los, D.A. Meyers, J.D. Minna, Per Teisberg, J.D. Shulkin, B.M. Page, M.C. Yoshida, K.E. Buckton, M.C. Sparkes, A.P. Goggin, M.L. Rivas, P.S. Gerald, K. Simola, C.E. Wright, W.K. Stanford, J.A. Brown, R.C.P. Go, L. Scrafford-Wolff, P.M. Sinet, D.C. Rao, E.J. Yunis, A. Westerveld, L. R. Weitkamp, B. Sykes, M. Bobrow, N. Oliver, H.-H. Ropers, M.A. Ferguson-Smith, D. Borgaonkar, S. Piomelli, D. Bootsma, C.W. Bazinet, A.F. Wilson, H. Hameister, P.J.L. Cook, E. Herbschleb-Voogt, J.J. Yunis, P. Szabo, S. Philipps, W. R. Mayr, T.B. Shows, E.A. Azen, R.C. Schwartz, J.M. Vance, S. Leupe-de Smit, D. Swallow, A.C. Leary, Bjørnar Olaisen, R.C. Karn, Y. Shimizu, B.J.B. Keats, E. Solomon, M.L. Schroeder, T. Gedde-Dahl, O.J. Miller, V. Kirton, J. H. Olving, S. Brown, R. Roos, D. Cox, F. Pellett, L.Y. Wang, Timothy A. Donlon, R.E. Magenis, E.M. Helveston, N.C. Sun, A. de la Chapelle, J.M. Luciani, A. Heiberg, R.S. Lemons, D.L. George, C.R.Y. Sun, R.D.G. McKay, R.M. Denney, N. Lamvik, A.S. Baim, R. Schwab, I. Balazs, N.E. Morton, L. Pajunen, M. Blumenthal, J.R. Sawyer, Elizabeth B. Robson, R.E. Eisenman, M. Prensky, P.A. Lalley, K.M. Overton, T.M. Dijksman, L.C. Yu, J.A. Robinson, L.M.M. Wijnen, H. Kaita, R.C. Elston, S.J. O’Brien, J. Garver, M.A. Nijman, M. Monteba-van Heuvel, P.L. Pearson, S. Povey, Erik Thorsby, B. Lauras, P. M. Conneally, V.A. McKusick, E. Tolley, K. Willecke, A.D. Merritt, R. Moreland, P. Meera Khan, P. Pierce, T.H. Roderick, M.Y. Tsai, R. Johannsmann, T. Campana, A. Brøgger, E.W. Lovrien, R.L. Eddy, N. Suciu-Foca, C.G. Palmer, C. Jones, A.F. Gazdar, A. Shalev, M.K. Fagerhol, E. Johnston, J. Reiss, C.N. Fear, S. Burgess, L.L. Haley, S. Hempfling, W.S. Volkers, J. Gavin, Liao Law, Y. Boyd, A. Mayerová, J.H. Edwards, M.G. Byers, W. Stanley, L.R. Weitkamp, M.E. Duncan, H.J. Evans, L.J. Donald, B. Hellkuhl, F.H. Ruddle, I.L. Hansteen, B.M. Turner, I.W. Craig, K.-H. Grzeschik, T. Mohandas, A. Siverts, D.W. Ball, K.C. Atwood, R. Bigley, L. U. Lamm, R.S. Sparkes, M. Siniscalco, S. Arias, R.A. Fisher, M. Mota, E.R. Giblett, C.T. Falk, S. Guttormsen, N.R. Mendell, K. Hirschhorn, M. Smith, H. Oie, M.P. Cowmeadow, F.T. Kao, J. de Witt, N. Shimizu, E.A. Nichols, E.S. Seravalli, D.A. Aitken, R. Mausner, M. Hultén, M. Lewis, R. Saisson, A. Bratlie, A.E. Greene, P. Karli, J. Chamberlin, M.T. Davisson, P.J. McAlpine, C.W.H. Partridge, I. Berczi, W.F. Witterland, Veronica van Heyningen, B.P. Dorman, A.P.M. Jongsma, P. Rubinstein, B.B. Knowles, C. Verma, J. Wood, M.J. Champion, B. Pernis, R. Sanger, K.E. Toomey, A. Bennick, P.L. Yu, W.L. Marsh, V.M. Regina, B.A. Doppert, J.J. Garver, U. Francke, J. Fraisse, M.E. Chandler, G.A.P. Bruns, H. Vriesendorp, S. Rowe, A. Krüger, J.M. Robert, B.J. Mintz, K. Bender, R. Lange, T. Borun, J.A. Norton, T. Ho, J.E. Noades, M.A. Pericak-Vance, R.T. Taggart, N. Tanigaki, M.A. Craft, K. Berg, Matthew Parks, F. Freycon, D.P. Aden, C.A. Slaughter, H.J. Cooke, J.E. Anderson, E. Lovrien, A.W. Johnston, A. Estop, J. Parekh, W.G. Burgerhout, M.A. Pellegrino, J. Hemmerling, A.F. Naylor, J.L. Hamerton, S. Goodnight, D.B. Amos, C.K. Eun, D.L. Slate, R. Jonassen, J. Ott, R. Mierau, T.T. Puck, D. Warburton, M. Devictor-Vuillet, C.J. Sherr, R.H. Lindenbaum, H.P. Klinger, K.K. Namboodiri, M. Meisler, S. Rosenfeld, F. Varricchio, E.H.Y. Chu, B. Carritt, T. Philip, W. Bauch, S.J. Jeremiah

Publikováno v: Cytogenetic and Genome Research. 22:727-730

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f56223ed5a056c5f7bc669d0a7d22815
https://doi.org/10.1159/000131063

Clinical Dilemmas Arising from the Antenatal Diagnosis of Neural Tube Defects

Autor: Michael J. Bennett, HowardS. Cuckle, A. C. Turnbull, R.H. Lindenbaum, Martin Bobrow, G. M. Stirrat, Nicholas J. Wald

Publikováno v: Obstetrical & Gynecological Survey. 35:46-48

Summary Eight case histories are presented which demonstrate clinical problems associated with the antenatal screening for and diagnosis of neural tube defects. It is suggested how some of these problems might be avoided in future.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4f622bb48526c5ba7195a3f051bfca4
https://doi.org/10.1097/00006254-198001010-00019

The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS

Autor: Ronald A. Chalmers, J. M. Saudubray, B. R. Pettit, J. Boue, G. S. King, R.H. Lindenbaum, R. G. F. Gray, J. W. Keeling, F. Rocchiccioli, B. M. Tracey

Publikováno v: Journal of inherited metabolic disease. 8

Glutaric aciduria type II (multiple acyl-CoA dehydrogenase deficiency) (McKusick 23168) is an inherited metabolic disease associated clinically with severe hypoglycaemia, metabolic acidosis, hepatomegaly, hypotonia, neurological symptoms and death in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e420aa2c40dd72ce055ae67ecc4481b5
https://pubmed.ncbi.nlm.nih.gov/3930871