Zobrazeno 1 - 10
of 100
pro vyhledávání: '"P.J.L. Cook"'
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
Publikováno v:
Cytogenetic and Genome Research. 16:7-23
Autor:
D.E. Wilson, P. Shaffer-Berman, E. Solomon, N. Shimizu, S. Goss, P. DeBona, A.G. Steinberg, R.M. Siervogel, A.S. Henderson, T.-S. Chan, J.E. Anderson, A.B. Deisseroth, J.A. Anderson, D. Weil, A.D. Merritt, M. Velivasakis, D. Cox, P. Meera Khan, K.M. Overton, G.B. Côté, E. Lovrien, J.A. Brown, S. Chen, C. Finaz, R.H. Schwartz, I.W. Craig, J. Courval, B. Olaisen, P. Teisberg, J.A. Robinson, P.L. Pearson, M.C. DuVal, N. Busby, M. Ray, T.P. Webb, R.H. Kennett, C.J. Chern, P.J. Davies, I. Schreuder, B. Kaiser McCaw, H. Wyandt, J. Mohr, A. Icén, K.E. Buckton, A.R. Dunn, A.W. Nienhuis, J.V. Higgins, R.G. Worton, P.J.L. Cook, G. Spowart, J.A. Norton, J.E. Noades, R.S. Kucherlapati, W.S. Volkers, T.B. Shows, H. Wang, R.A. Raeburn, Matthew Parks, R.E. Magenis, M. Bobrow, S. Hansen, H.M. Dick, S.H. Boyer, S.H. Hsu, Veronica van Heyningen, K.R.M. Pai, R.A. Fisher, D.P. Aden, C.A. Slaughter, A.B. Bijnen, R.D. Koler, S. Guttormsen, R. Sanger, D. Linder, F. Hecht, D. Bacon, R.B. Surana, P.L. Yu, L.A. Klobutcher, O. Smithies, T.T. Puck, D.A. Hopkinson, D. Warburton, D. Shaw, K. Berg, S.J. Goss, L.L.L. Wijnen, D.A. Meyers, A. Heiberg, T. Gedde-Dahl, E. Hackel, C. Cochet, J. Frézal, C.M. Giles, A.A. Biegel, I.P. Gormley, M. Smith, F.-T. Kao, P. Vuopio, B. Schacter, B. Clark, J.D. Minna, T.A. Tedesco, M.G. Brown, C.J. Glueck, K.G. Orkwiszewski, H. Skre, K. Hirschhorn, N. Van Cong, W.F. Bodmer, W.G. Burgerhout, B.A. Doppert, W. Bodmer, G. Skude, A. Boué, E.A. Jones, K.C. Atwood, S. McDonald, C.M. Croce, E. Eicher, E.S. Seravalli, R.C.P. Go, C.G. Palmer, E.B. Robson, K. Bender, D.A. Aitken, R.P. Creagan, W.F. Anderson, P.H. Gallimore, J.B. Dossetor, W. Putt, M. Lewis, V. Lewis, F.H. Ruddle, J. Ott, H. Eiberg, M. Rivas, T.H. Marshall, M.E. Hodes, K.D. Smith, P. Bowen, A.P.M. Jongsma, R. Bigley, N. Lea, G.F. Brooks, H. Kaita, L. Wisniewski, E.R. Giblett, H.E. Faber, R.C. Elston, P. Couillin, W.B. Bias, H. Koprowski, R. Rebourcet, C.T. Falk, M.T. Yu, L.J. Stevens, U. Francke, J.J. van Rood, G. Pontecorvo, P.E. Polani, D. Patterson, E.W. Lovrien, E.A. Nichols, J.L. Hamerton, D.P. Singal, J.K. McDougall, M.L. Rivas, T. Reber, B.H. Petersen, S. Povey, Erik Thorsby, G. Khoury, E. Tolley, W.R. Breg, T. Hassold, L. Kunkel, R.L. Eddy, L.L. Haley, J. Shuster, M.A. Ferguson-Smith, D.W. Buck, R.M. Denney, K. Lange, F.H. Allen, B.R. Migeon, P. Goodfellow, R. Kucherlapati, L.R. Weitkamp, J. de Grouchy, B.M. Turner, S.S. Wachtel, T. Mohandas, P.M. Conneally, M. Siniscalco, M.D. Poulik, R. Velez, A. Hershberg, B. Moore, G.C. Koo, V.M. Chapman, A. Westerveld, B. Hellkuhl, H.P. Klinger, D. Bootsma, K.K. Namboodiri, G. Wullems, O.J. Miller, P. Gold, P. Perry, P.J. McAlpine, P.A. Lalley, A. Brøgger, J. Schlaut, M.W. Thompson, A. de la Chapelle, B. Chown, A.G. Searle, I. Pagan-Charry, C. Jones, J. van der Horst, H. van Someren, K. Willecke, E. Johnston, J.H. Edwards, W.J. Mellman, K.-H. Grzeschik, S. Ohno, P. Teesdale, C.S.N. Lee, L. Wang, V.S. Turner
Publikováno v:
Cytogenetic and Genome Research. 16:449-452
Publikováno v:
British Journal of Diseases of the Chest. 77:28-34
In a multicentre survey of alpha 1 antitrypsin deficiency 25 heterozygotes of type SZ were identified. Fourteen index cases were identified through chest clinics and 11 non-index cases through family studies. Emphysema was largely confined to index m
Autor:
T. Gedde-Dahl, P.M Conneally, G.R. Douglas, J. Prosser, E. Grace, J.L. Hamerton, K.-H. Grzeschik, M.A. Ferguson-Smith, P.L. Pearson, G. Corneo, E.A. Nichols, G.J. Wullems, M. Bobrow, N.C. Sun, J.E. Syrett, J.K. McDougall, R. Rebourcet, J. Frézal, V.A. McKusick, F.H. Ruddle, W. Keijzer, A. Westerveld, T.G. Gedde-Dahl, R.M. Baker, R.C. Miller, F. Hecht, P. Goodfellow, B. Olaisen, J. Ott, A.J.J. Reuser, A. Vust, C.W.H. Partridge, D.R. Bolling, J. Fleming, S.E. Gardiner, P.J. McAlpine, D.M. Steffensen, E.R. Giblett, D. Kacian, E.M. Wurzer-Figurelli, R.S. Kucherlapati, T.B. Shows, K. Berg, H. Bosker, K.C. Atwood, M.C. Rattazzi, D.W. Buck, K.W. Jones, A.G.J.M. van der Linden, R.P. Clayton, J. German, W. Prensky, V. Niewczas-Late, D. Bergsma, C.M. Giles, D.A. Meyers, E.M. Eicher, D.S. Borgaonkar, D. Mutton, K.P. Glen, P.M. Ellis, K. Hirschhorn, E. Jones, S. Povey, A. Hoogeveen, J. van der Horst, J.J. van Rood, P.M. Price, B. Bengtsson, W.G. Burgerhout, C.C. Chang, L.R. Weitkamp, R.E. Giles, E. Magenis, H. van Someren, H.M.A. Beyersbergen van Henegouwen, R.A. Buckland, K. Willecke, U. Francke, D. Bootsma, C. Partridge, R. Kennett, E. Johnston, D.A. Hopkinson, A.E. Greene, O. Mutchinick, R.P. Creagan, R.S.K. Chaganti, L. Komarnicki, T. Mohandas, M. Fellous, K. Fenger, J.H. Edwards, G. Beckman, A.S. Henderson, M.L. Rivas, L. Beckman, W.R.T. Los, L.L. Coriell, I. Purdom, N. van Cong, P. Meera Khan, H.A. de Wit-Verbeek, G.B. Côté, A.R. Mitchell, Veronica van Heyningen, S.A. Sørensen, L. Wang, E. Solomon, J.A. Brown, W.S. Volkers, H. Galjaard, J.E. Anderson, C. Pangalos, A.P.M. Jongsma, R. Sanger, S.M. Elsevier, E. Lovrien, A.B. Bijnen, M.K. Fagerhol, J.A. Pierce, M. Lewis, E.H.Y. Chu, W.B. Bias, D. Weil, S. Chen, J. de Wit, C.G. Palmer, P.W. Teesdale, F.A. McMorris, G. Miller, A.D. Merritt, R.G. Davidson, J.R. Gosden, I. Schreuder, W.F. Bodmer, P.J.L. Cook, J.E. Gray, N. Busby, H. Kaita, R.C. Elston, Y.-S. Teng, S.M. Bowser Riley, R.A. Oosterbaan, P.L. Townes, E.B. Robson, H.J. Evans, L.E. Nijenhuis, A. Hagemeijer
Publikováno v:
Cytogenetic and Genome Research. 14:I-VIII
Publikováno v:
Human Heredity. 31:291-295
Contrary to earlier reports from Asia, trisomy 21 is common in Burma and other chromosome abnormalities are found. A variety of dominant, recessive and X-linked genetic disorders occur. Twins are found in 1% of births and MZ and DZ twins are equally
Publikováno v:
British Journal of Diseases of the Chest. 77:14-27
Hereditary deficiency of alpha 1 antitrypsin, the main serum inhibitor of proteolytic enzymes is associated with pulmonary emphysema of early onset. A multicentre survey of this disorder was started in 1976 and details of 166 subjects homozygous for
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
Autor:
John L. Hamerton, P.J.L. Cook
Publikováno v:
Cytogenetic and Genome Research. 13:13-20
Autor:
J.L Hamerton, P.J.L. Cook
Publikováno v:
Cytogenetic and Genome Research. 14:173-182