Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Jolley, Jd"'
Autor:
Burton, PR, Clayton, DG, Cardon, LR, Craddock, N, Deloukas, P, Duncanson, A, Kwiatkowski, DP, McCarthy, MI, Ouwehand, WH, Samani, NJ, Todd, JA, Donnelly, P, Barrett, JC, Davison, D, Easton, D, Evans, DM, Leung, HT, Marchini, JL, Morris, AP, Spencer, CC, Tobin, MD, Attwood, AP, Boorman, JP, Cant, B, Everson, U, Hussey, JM, Jolley, JD, Knight, AS, Koch, K, Meech, E, Nutland, S, Prowse, CV, Stevens, HE, Taylor, NC, Walters, GR, Walker, NM, Watkins, NA, Winzer, T, Jones, RW, McArdle, WL, Ring, SM, Strachan, DP, Pembrey, M, Breen, G, St Clair, D, Caesar, S, Gordon-Smith, K, Jones, L, Fraser, C, Green, EK, Grozeva, D, Hamshere, ML, Holmans, PA, Jones, IR, Kirov, G, Moskivina, V, Nikolov, I, O'Donovan, MC, Owen, MJ, Collier, DA, Elkin, A, Farmer, A, Williamson, R, McGuffin, P, Young, AH, Ferrier, IN, Ball, SG, Balmforth, AJ, Barrett, JH, Bishop, TD, Iles, MM, Maqbool, A, Yuldasheva, N, Hall, AS, Braund, PS, Dixon, RJ, Mangino, M, Stevens, S, Thompson, JR, Bredin, F, Tremelling, M, Parkes, M, Drummond, H, Lees, CW, Nimmo, ER, Satsangi, J, Fisher, SA, Forbes, A, Lewis, CM, Onnie, CM, Prescott, NJ, Sanderson, J, Matthew, CG, Barbour, J, Mohiuddin, MK, Todhunter, CE, Mansfield, JC, Ahmad, T, Cummings, FR, Jewell, DP, Webster, J, Brown, MJ, Lathrop, MG, Connell, J, Dominiczak, A, Marcano, CA, Burke, B, Dobson, R, Gungadoo, J, Lee, KL, Munroe, PB, Newhouse, SJ, Onipinla, A, Wallace, C, Xue, M, Caulfield, M, Farrall, M, Barton, A, Bruce, IN, Donovan, H, Eyre, S, Gilbert, PD, Hilder, SL, Hinks, AM, John, SL, Potter, C, Silman, AJ, Symmons, DP, Thomson, W, Worthington, J, Dunger, DB, Widmer, B, Frayling, TM, Freathy, RM, Lango, H, Perry, JR, Shields, BM, Weedon, MN, Hattersley, AT, Hitman, GA, Walker, M, Elliott, KS, Groves, CJ, Lindgren, CM, Rayner, NW, Timpson, NJ, Zeggini, E, Newport, M, Sirugo, G, Lyons, E, Vannberg, F, Hill, AV, Bradbury, LA, Farrar, C, Pointon, JJ, Wordsworth, P, Brown, MA, Franklyn, JA, Heward, JM, Simmonds, MJ, Gough, SC, Seal, S, Stratton, MR, Rahman, N, Ban, M, Goris, A, Sawcer, SJ, Compston, A, Conway, D, Jallow, M, Rockett, KA, Bumpstead, SJ, Chaney, A, Downes, K, Ghori, MJ, Gwilliam, R, Hunt, SE, Inouye, M, Keniry, A, King, E, McGinnis, R, Potter, S, Ravindrarajah, R, Whittaker, P, Widden, C, Withers, D, Cardin, NJ, Ferreira, T, Pereira-Gale, J, Hallgrimsdo'ttir, IB, Howie, BN, Su, Z, Teo, YY, Vukcevic, D, Bentley, D, Mitchell, SL, Newby, PR, Brand, OJ, Carr-Smith, J, Pearce, SH, Reveille, JD, Zhou, X, Sims, AM, Dowling, A, Taylor, J, Doan, T, Davis, JC, Savage, L, Ward, MM, Learch, TL, Weisman, MH, Brown, M
Publikováno v:
Burton, P R, Clayton, D G, Cardon, L R, Craddock, N, Deloukas, P, Duncanson, A, Kwiatkowski, D P, McCarthy, M I, Ouwehand, W H, Samani, N J, Todd, J A, Donnelly, P, Barrett, J C, Davison, D, Easton, D, Evans, D M, Leung, H-T, Marchini, J L, Morris, A P, Spencer, C C A, Tobin, M D, Attwood, A P, Boorman, J P, Cant, B, Everson, U, Hussey, J M, Jolley, J D, Knight, A S, Koch, K, Meech, E, Nutland, S, Prowse, C V, Stevens, H E, Taylor, N C, Walters, G R, Walker, N M, Watkins, N A, Winzer, T, Jones, R W, McArdle, W L, Ring, S M, Strachan, D P, Pembrey, M, Breen, G, St Clair, D, Caesar, S, Drummond, H, Lees, C W & Nimmo, E R & Satsangi, J 2007, ' Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants ', Nature Genetics, vol. 39, no. 11, pp. 1329-37 . https://doi.org/10.1038/ng.2007.17
We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eb0ae488030d93095bbd731921effd4
https://doi.org/10.1038/ng.2007.17
https://doi.org/10.1038/ng.2007.17
Autor:
Lucas G1, Lluís-Ganella C, Subirana I, Musameh MD, Gonzalez JR, Nelson CP, Sentí M, Myocardial Infarction Genetics Consortium, Wellcome Trust Case Control Consortium, Schwartz SM, Siscovick D, O'Donnell CJ, Melander O, Salomaa V, Purcell S, Altshuler D, Samani NJ, Kathiresan S, Elosua R, Voight BF, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, Siscovick DS, Peltonen L, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Casari G, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Yee J, Friedlander Y, Marrugat J, Lucas G, Sala J, Ramos R, Meigs JB, Williams G, Nathan DM, MacRae CA, Havulinna AS, Berglund G, Deloukas P, Donnelly P, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Kwiatkowski DP, Mathew CG, McCarthy MI, Ouwehand WH, Parkes M, Pembrey M, Rahman N, Stratton MR, Todd JA, Worthington J, Burton PR, Clayton DG, Cardon LR, Craddock N, Duncanson A, Barrett JC, Davison D, Easton D, Evans D, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Ball SG, Balmforth AJ, Barrett JH, Bishop D, Iles MM, Maqbool A, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Cardo LR, Cardin NJ, Ferreira T, Pereira-Gale J, Hallgrimsdottir IB, Howie BN, Su Z, Teo YY, Vukcevic D
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e41730 (2012)
PLoS ONE; 7(8) (2012)
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS ONE
PLoS ONE; 7(8) (2012)
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS ONE
The genetic loci that have been found by genome-wide association studies to modulate risk of coronary heart disease explain only a fraction of its total variance, and gene-gene interactions have been proposed as a potential source of the remaining he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7137cbffdf8bbffb8903d1b32b7d981
http://www.plosone.org/article/fetchObjectAttachment.action?uri=info:doi/10.1371/journal.pone.0041730&representation=PDF
http://www.plosone.org/article/fetchObjectAttachment.action?uri=info:doi/10.1371/journal.pone.0041730&representation=PDF
Autor:
Reilly MP, Li M, He J, Ferguson JF, Stylianou IM, Mehta NN, Burnett MS, Devaney JM, Knouff CW, Thompson JR, Horne BD, Stewart AF, Assimes TL, Wild PS, Allayee H, Nitschke PL, Patel RS, Myocardial Infarction Genetics Consortium, Wellcome Trust Case Control Consortium, Martinelli N, Girelli D, Quyyumi AA, Anderson JL, Erdmann J, Hall AS, Schunkert H, Quertermous T, Blankenberg S, Hazen SL, Roberts R, Kathiresan S, Samani NJ, Epstein SE, Rader DJ, Qasim AN, DerOhannessian SL, Qu L, Cappola TP, Chen Z, Matthai W, Hakonarson HH, Wilensky R, Kent KM, Lindsay JM, Pichard AD, Satler L, Waksman R, Knoupf CW, Walker MC, Waterworth DM, Mosser V, Braund PS, Wright B, Balmforth AJ, Ball SG, Chen L, Wells GA, McPherson R, Lackner K, Munzel TF, Schillert A, Schnabel R, Zeller T, Ziegler A, Absher D, Hlatky MA, Iribaren C, Knowles JW, Linsel Nitschke P, König IR, Hengstenberg C, Nahrstaedt J, Peters A, Schreiber S, Wichmann E, Willenborg C, Su S, Bouzyk M, Vaccarino V, Zafari AM, Carlquist JF, Muhlestein JB, Olivieri O, Barnard J, Hartiala J, Tang WH, Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskvina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Barrett JH, Bishop DT, Iles MM, Maqbool A, Yuldasheva N, Dixon RJ, Mangino M, Stevens S, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Mathew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop M, Connell J, Dominiczak A, Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hider SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Dunger DB, Widmer B, Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SC, Seal S, Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Ferreira T, Pereira Gale J, Hallgrimsdóttir IB, Bowie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Meigs JB, Williams G, Nathan DM, MacRae CA, O'Donnell CJ, Ardissino D, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Mannucci PM, Schwartz SM, Siscovick DS, Yee J, Friedlander Y, Elosua R, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Salomaa V, Havulinna AS, Peltonen L, Melander O, Berglund G, Voight BF, Hirschhorn JN, Asselta R, Duga S, Spreafico M, Musunuru K, Daly MJ, Purcell S, Surti A, Guiducci C, Gianniny L, Mirel D, Parkin M, Burtt N, Gabriel SB, CASARI , GIORGIO NEVIO
BACKGROUND: We tested whether genetic factors distinctly contribute to either development of coronary atherosclerosis or, specifically, to myocardial infarction in existing coronary atherosclerosis. METHODS: We did two genome-wide association studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ce2b0c437bbc1bd43bd9fc77d063fa
http://hdl.handle.net/11562/1028982
http://hdl.handle.net/11562/1028982
Autor:
Jostins, Luke, Ripke, Stephan, Weersma, Rinse K., Duerr, Richard H., Mcgovern, Dermot P., Hui, Ken Y., Lee, James C., Philip Schumm, L., Sharma, Yashoda, Anderson, Carl A., Essers, Jonah, Mitrovic, Mitja, Ning, Kaida, Cleynen, Isabelle, Theatre, Emilie, Spain, Sarah L., Raychaudhuri, Soumya, Goyette, Philippe, Wei, Zhi, Abraham, Clara, Achkar, Jean Paul, Ahmad, Tariq, Amininejad, Leila, Ananthakrishnan, Ashwin N., Andersen, Vibeke, Andrews, Jane M., Baidoo, Leonard, Balschun, Tobias, Bampton, Peter A., Bitton, Alain, Boucher, Gabrielle, Brand, Stephan, Büning, Carsten, Cohain, Ariella, Cichon, Sven, D'Amato, Mauro, De Jong, Dirk, Devaney, Kathy L., Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Ferguson, Lynnette R., Franchimont, Denis, Fransen, Karin, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jürgen, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hedl, Matija, Xinli, Hu, Karlsen, Tom H., Kupcinskas, Limas, Kugathasan, Subra, Latiano, Anna, Laukens, Debby, Lawrance, Ian C., Lees, Charlie W., Louis, Edouard, Mahy, Gillian, Mansfield, John, Morgan, Angharad R., Mowat, Craig, Newman, William, Palmieri, Orazio, Ponsioen, Cyriel Y., Potocnik, Uros, Prescott, Natalie J., Regueiro, Miguel, Rotter, Jerome I., Russell, Richard K., Sanderson, Jeremy D., Sans, Miquel, Satsangi, Jack, Schreiber, Stefan, Simms, Lisa A., Sventoraityte, Jurgita, Targan, Stephan R., Taylor, Kent D., Tremelling, Mark, Verspaget, Hein W., De Vos, Martine, Wijmenga, Cisca, Wilson, David C., Winkelmann, Juliane, Xavier, Ramnik J., Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K., Zhao, Hongyu, Silverberg, Mark S., Annese, Vito, Hakonarson, Hakon, Brant, Steven R., Radford Smith, Graham, Mathew, Christopher G., Rioux, John D., Schadt, Eric E., Daly, Mark J., Franke, Andre, Parkes, Miles, Vermeire, Severine, Barrett, Jeffrey C., Cho, Judy H., Barclay, M, Peyrin Biroulet, L, Chamaillard, M, Colombel, Jf, Cottone, M, Croft, A, D'Incà, R, Halfvarson J, Hanigan K, Henderson, P, Hugot, Jp, Karban, A, Kennedy, Na, Khan, Ma, Lémann, M, Levine, A, Massey, D, Milla, M, Montgomery, Gw, Ng, Sm, Oikonomou, I, Peeters, H, Proctor, Dd, Rahier, Jf, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, Laura, Taylor, Km, Törkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, Mh, Zhang, H, Zhang, W, Andrews, Jm, Bampton, Pa, Florin, Th, Gearry, R, Krishnaprasad, K, Lawrance, Ic, Mahy, G, Radford Smith, G, Roberts, Rl, Simms, La, Amininijad, L, Cleynen, I, Dewit, O, Franchimont, D, Georges, M, Laukens, D, Theatre, E, Vermeire, S, Aumais, G, Baidoo, L, Barrie AM 3rd, Beck, K, Bernard, Ej, Binion, Dg, Bitton, A, Brant, Sr, Cho, Jh, Cohen, A, Croitoru, K, Daly, Mj, Datta, Lw, Deslandres, C, Duerr, Rh, Dutridge, D, Ferguson, J, Fultz, J, Goyette, P, Greenberg, Gr, Haritunians, T, Jobin, G, Katz, S, Lahaie, Rg, Mcgovern, Dp, Nelson, L, Ning, K, Paré, P, Regueiro, Md, Rioux, Jd, Ruggiero, E, Schumm, L, Schwartz, M, Scott, R, Sharma, Y, Silverberg, Ms, Spears, D, Steinhart, A, Stempak, Jm, Swoger, Jm, Tsagarelis, C, Zhang, C, Zhao, H, Aerts, J, Ahmad, T, Arbury, H, Attwood, A, Auton, A, Ball, Sg, Balmforth, Aj, Barnes, C, Barrett, Jc, Barroso, I, Barton, A, Bennett, Aj, Bhaskar, S, Blaszczyk, K, Bowes, J, Brand, Oj, Braund, Ps, Bredin, F, Breen, G, Brown, Mj, Bruce, In, Bull, J, Burren, Os, Burton, J, Byrnes, J, Caesar, S, Cardin, N, Clee, Cm, Coffey, Aj, Connell, Jm, Conrad, Df, Cooper, Jd, Dominiczak, Af, Downes, K, Drummond, He, Dudakia, D, Dunham, A, Ebbs, B, Eccles, D, Edkins, S, Edwards, C, Elliot, A, Emery, P, Evans, Dm, Evans, G, Eyre, S, Farmer, A, Ferrier, In, Flynn, E, Forbes, A, Forty, L, Franklyn, Ja, Frayling, Tm, Freathy, Rm, Giannoulatou, E, Gibbs, P, Gilbert, P, Gordon Smith, K, Gray, E, Green, E, Groves, Cj, Grozeva, D, Gwilliam, R, Hall, A, Hammond, N, Hardy, M, Harrison, P, Hassanali, N, Hebaishi, H, Hines, S, Hinks, A, Hitman, Ga, Hocking, L, Holmes, C, Howard, E, Howard, P, Howson, Jm, Hughes, D, Hunt, S, Isaacs, Jd, Jain, M, Jewell, Dp, Johnson, T, Jolley, Jd, Jones, Ir, Jones, La, Kirov, G, Langford, Cf, Lango Allen, H, Lathrop, Gm, Lee, J, Lee, Kl, Lees, C, Lewis, K, Lindgren, Cm, Maisuria Armer, M, Maller, J, Mansfield, J, Marchini, Jl, Martin, P, Massey, Dc, Mcardle, Wl, Mcguffin, P, Mclay, Ke, Mcvean, G, Mentzer, A, Mimmack, Ml, Morgan, Ae, Morris, Ap, Mowat, C, Munroe, Pb, Myers, S, Newman, W, Nimmo, Er, O'Donovan, Mc, Onipinla, A, Ovington, Nr, Owen, Mj, Palin, K, Palotie, A, Parnell, K, Pearson, R, Pernet, D, Perry, Jr, Phillips, A, Plagnol, V, Prescott, Nj, Prokopenko, I, Quail, Ma, Rafelt, S, Rayner, Nw, Reid, Dm, Renwick, A, Ring, Sm, Robertson, N, Robson, S, Russell, E, St Clair, D, Sambrook, Jg, Sanderson, Jd, Sawcer, Sj, Schuilenburg, H, Scott, Ce, Seal, S, Shaw Hawkins, S, Shields, Bm, Simmonds, Mj, Smyth, Dj, Somaskantharajah, E, Spanova, K, Steer, S, Stephens, J, Stevens, He, Stirrups, K, Stone, Ma, Strachan, Dp, Su, Z, Symmons, Dp, Thompson, Jr, Thomson, W, Tobin, Md, Travers, Me, Turnbull, C, Vukcevic, D, Wain, Lv, Walker, M, Walker, Nm, Wallace, C, Warren Perry, M, Watkins, Na, Webster, J, Weedon, Mn, Wilson, Ag, Woodburn, M, Wordsworth, Bp, Yau, C, Young, Ah, Zeggini, E, Brown, Ma, Burton, Pr, Caulfield, Mj, Compston, A, Farrall, M, Gough, Sc, Hall, As, Hattersley, At, Hill, Av, Mathew, Cg, Pembrey, M, Satsangi, J, Stratton, Mr, Worthington, J, Hurles, Me, Duncanson, A, Ouwehand, Wh, Parkes, M, Rahman, N, Todd, Ja, Samani, Nj, Kwiatkowski, Dp, Mccarthy, Mi, Craddock, N, Deloukas, P, Donnelly, P, Blackwell, Jm, Bramon, E, Casas, Jp, Corvin, A, Jankowski, J, Markus, Hs, Palmer, Cn, Plomin, R, Rautanen, A, Trembath, Rc, Viswanathan, Ac, Wood, Nw, Spencer, Cc, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Pirinen, M, Strange, A, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P.
Publikováno v:
Nature, 491, 119-124
Nature, 491(7422), 119-124. Nature Publishing Group
Jostins, L, Ripke, S, Weersma, R K, Duerr, R H, McGovern, D P, Hui, K Y, Lee, J C, Schumm, L P, Sharma, Y, Anderson, C A, Essers, J, Mitrovic, M, Ning, K, Cleynen, I, Theatre, E, Spain, S L, Raychaudhuri, S, Goyette, P, Wei, Z, Abraham, C, Achkar, J-P, Ahmad, T, Amininejad, L, Ananthakrishnan, A N, Andersen, V, Andrews, J M, Baidoo, L, Balschun, T, Bampton, P A, Bitton, A, Boucher, G, Brand, S, Büning, C, Cohain, A, Cichon, S, D'Amato, M, De Jong, D, Devaney, K L, Dubinsky, M, Edwards, C, Ellinghaus, D, Ferguson, L R, Franchimont, D, Fransen, K, Gearry, R, Georges, M, Gieger, C, Glas, J, Haritunians, T, Hart, A & International IBD Genetics Consortium (IIBDGC) 2012, ' Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease ', Nature, vol. 491, no. 7422, pp. 119-24 . https://doi.org/10.1038/nature11582
Jostins, L, Ripke, S, Weersma, R K, Duerr, R H, McGovern, D P, Hui, K Y, Lee, J C, Schumm, L P, Sharma, Y, Anderson, C A, Essers, J, Mitrovic, M, Ning, K, Cleynen, I, Theatre, E, Spain, S L, Raychaudhuri, S, Goyette, P, Wei, Z, Abraham, C, Achkar, J-P, Ahmad, T, Amininejad, L, Ananthakrishnan, A N, Andersen, V, Andrews, J M, Baidoo, L, Balschun, T, Bampton, P A, Bitton, A, Boucher, G, Brand, S, Büning, C, Cohain, A, Cichon, S, D'Amato, M, De Jong, D, Devaney, K L, Dubinsky, M, Edwards, C, Ellinghaus, D, Ferguson, L R, Franchimont, D, Fransen, K, Gearry, R, Georges, M, Lees, C W, Satsangi, J, Wilson, D & Henderson, P 2012, ' Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease ', Nature, vol. 491, no. 7422, pp. 119-124 . https://doi.org/10.1038/nature11582
Nature, 491, pp. 119-124
Nature, 491(7422), 119-124
Nature, 491(7422), 119-124. Nature Publishing Group
Jostins, L, Ripke, S, Weersma, R K, Duerr, R H, McGovern, D P, Hui, K Y, Lee, J C, Schumm, L P, Sharma, Y, Anderson, C A, Essers, J, Mitrovic, M, Ning, K, Cleynen, I, Theatre, E, Spain, S L, Raychaudhuri, S, Goyette, P, Wei, Z, Abraham, C, Achkar, J-P, Ahmad, T, Amininejad, L, Ananthakrishnan, A N, Andersen, V, Andrews, J M, Baidoo, L, Balschun, T, Bampton, P A, Bitton, A, Boucher, G, Brand, S, Büning, C, Cohain, A, Cichon, S, D'Amato, M, De Jong, D, Devaney, K L, Dubinsky, M, Edwards, C, Ellinghaus, D, Ferguson, L R, Franchimont, D, Fransen, K, Gearry, R, Georges, M, Gieger, C, Glas, J, Haritunians, T, Hart, A & International IBD Genetics Consortium (IIBDGC) 2012, ' Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease ', Nature, vol. 491, no. 7422, pp. 119-24 . https://doi.org/10.1038/nature11582
Jostins, L, Ripke, S, Weersma, R K, Duerr, R H, McGovern, D P, Hui, K Y, Lee, J C, Schumm, L P, Sharma, Y, Anderson, C A, Essers, J, Mitrovic, M, Ning, K, Cleynen, I, Theatre, E, Spain, S L, Raychaudhuri, S, Goyette, P, Wei, Z, Abraham, C, Achkar, J-P, Ahmad, T, Amininejad, L, Ananthakrishnan, A N, Andersen, V, Andrews, J M, Baidoo, L, Balschun, T, Bampton, P A, Bitton, A, Boucher, G, Brand, S, Büning, C, Cohain, A, Cichon, S, D'Amato, M, De Jong, D, Devaney, K L, Dubinsky, M, Edwards, C, Ellinghaus, D, Ferguson, L R, Franchimont, D, Fransen, K, Gearry, R, Georges, M, Lees, C W, Satsangi, J, Wilson, D & Henderson, P 2012, ' Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease ', Nature, vol. 491, no. 7422, pp. 119-124 . https://doi.org/10.1038/nature11582
Nature, 491, pp. 119-124
Nature, 491(7422), 119-124
Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other populations(1). Genome-wide association studies and subsequent meta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0177730ac9d2f7f8840bd9e4da9ec22
http://hdl.handle.net/2066/108139
http://hdl.handle.net/2066/108139
Autor:
Romagnoni, A., Jegou, S., Van Steen, K., Wainrib, G., Hugot, J. -P., Peyrin-Biroulet, L., Chamaillard, M., Colombel, J. -F., Cottone, M., D'Amato, M., D'Inca, R., Halfvarson, J., Henderson, P., Karban, A., Kennedy, N. A., Khan, M. A., Lemann, M., Levine, A., Massey, D., Milla, M., S. M. E., Ng, Oikonomou, I., Peeters, H., Proctor, D. D., Rahier, J. -F., Rutgeerts, P., Seibold, F., Stronati, L., Taylor, K. M., Torkvist, L., Ublick, K., Van Limbergen, J., Van Gossum, A., Vatn, M. H., Zhang, H., Zhang, W., Andrews, J. M., Bampton, P. A., Barclay, M., Florin, T. H., Gearry, R., Krishnaprasad, K., Lawrance, I. C., Mahy, G., Montgomery, G. W., Radford-Smith, G., Roberts, R. L., Simms, L. A., Hanigan, K., Croft, A., Amininijad, L., Cleynen, I., Dewit, O., Franchimont, D., Georges, M., Laukens, D., Theatre, E., Vermeire, S., Aumais, G., Baidoo, L., Barrie, A. M., Beck, K., Bernard, E. -J., Binion, D. G., Bitton, A., Brant, S. R., Cho, J. H., Cohen, A., Croitoru, K., Daly, M. J., Datta, L. W., Deslandres, C., Duerr, R. H., Dutridge, D., Ferguson, J., Fultz, J., Goyette, P., Greenberg, G. R., Haritunians, T., Jobin, G., Katz, S., Lahaie, R. G., Mcgovern, D. P., Nelson, L., S. M., Ng, Ning, K., Pare, P., Regueiro, M. D., Rioux, J. D., Ruggiero, E., Schumm, L. P., Schwartz, M., Scott, R., Sharma, Y., Silverberg, M. S., Spears, D., Steinhart, A. H., Stempak, J. M., Swoger, J. M., Tsagarelis, C., Zhang, C., Zhao, H., Aerts, J., Ahmad, T., Arbury, H., Attwood, A., Auton, A., Ball, S. G., Balmforth, A. J., Barnes, C., Barrett, J. C., Barroso, I., Barton, A., Bennett, A. J., Bhaskar, S., Blaszczyk, K., Bowes, J., Brand, O. J., Braund, P. S., Bredin, F., Breen, G., Brown, M. J., Bruce, I. N., Bull, J., Burren, O. S., Burton, J., Byrnes, J., Caesar, S., Cardin, N., Clee, C. M., Coffey, A. J., MC Connell, J., Conrad, D. F., Cooper, J. D., Dominiczak, A. F., Downes, K., Drummond, H. E., Dudakia, D., Dunham, A., Ebbs, B., Eccles, D., Edkins, S., Edwards, C., Elliot, A., Emery, P., Evans, D. M., Evans, G., Eyre, S., Farmer, A., Ferrier, I. N., Flynn, E., Forbes, A., Forty, L., Franklyn, J. A., Frayling, T. M., Freathy, R. M., Giannoulatou, E., Gibbs, P., Gilbert, P., Gordon-Smith, K., Gray, E., Green, E., Groves, C. J., Grozeva, D., Gwilliam, R., Hall, A., Hammond, N., Hardy, M., Harrison, P., Hassanali, N., Hebaishi, H., Hines, S., Hinks, A., Hitman, G. A., Hocking, L., Holmes, C., Howard, E., Howard, P., Howson, J. M. M., Hughes, D., Hunt, S., Isaacs, J. D., Jain, M., Jewell, D. P., Johnson, T., Jolley, J. D., Jones, I. R., Jones, L. A., Kirov, G., Langford, C. F., Lango-Allen, H., Lathrop, G. M., Lee, J., Lee, K. L., Lees, C., Lewis, K., Lindgren, C. M., Maisuria-Armer, M., Maller, J., Mansfield, J., Marchini, J. L., Martin, P., Massey, D. C., Mcardle, W. L., Mcguffin, P., Mclay, K. E., Mcvean, G., Mentzer, A., Mimmack, M. L., Morgan, A. E., Morris, A. P., Mowat, C., Munroe, P. B., Myers, S., Newman, W., Nimmo, E. R., O'Donovan, M. C., Onipinla, A., Ovington, N. R., Owen, M. J., Palin, K., Palotie, A., Parnell, K., Pearson, R., Pernet, D., Perry, J. R., Phillips, A., Plagnol, V., Prescott, N. J., Prokopenko, I., Quail, M. A., Rafelt, S., Rayner, N. W., Reid, D. M., Renwick, A., Ring, S. M., Robertson, N., Robson, S., Russell, E., Clair, D. S., Sambrook, J. G., Sanderson, J. D., Sawcer, S. J., Schuilenburg, H., Scott, C. E., Seal, S., Shaw-Hawkins, S., Shields, B. M., Simmonds, M. J., Smyth, D. J., Somaskantharajah, E., Spanova, K., Steer, S., Stephens, J., Stevens, H. E., Stirrups, K., Stone, M. A., Strachan, D. P., Su, Z., Symmons, D. P. M., Thompson, J. R., Thomson, W., Tobin, M. D., Travers, M. E., Turnbull, C., Vukcevic, D., Wain, L. V., Walker, M., Walker, N. M., Wallace, C., Warren-Perry, M., Watkins, N. A., Webster, J., Weedon, M. N., Wilson, A. G., Woodburn, M., Wordsworth, B. P., Yau, C., Young, A. H., Zeggini, E., Brown, M. A., Burton, P. R., Caulfield, M. J., Compston, A., Farrall, M., Gough, S. C. L., Hall, A. S., Hattersley, A. T., Hill, A. V. S., Mathew, C. G., Pembrey, M., Satsangi, J., Stratton, M. R., Worthington, J., Hurles, M. E., Duncanson, A., Ouwehand, W. H., Parkes, M., Rahman, N., Todd, J. A., Samani, N. J., Kwiatkowski, D. P., Mccarthy, M. I., Craddock, N., Deloukas, P., Donnelly, P., Blackwell, J. M., Bramon, E., Casas, J. P., Corvin, A., Jankowski, J., Markus, H. S., Palmer, C. N., Plomin, R., Rautanen, A., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Pirinen, M., Strange, A., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Jayakumar, A., Mccann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P.
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-18 (2019)
Scientific reports, Vol. 9, no. 1, p. 10351 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-18 (2019)
Scientific reports, Vol. 9, no. 1, p. 10351 (2019)
Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machin
Autor:
Peter Holmans, Udo Seedorf, Beverley M. Shields, Peter McGruffin, Arne Pfeufer, Steve Eyre, Nathalie J. Prescott, Michael Boehnke, Valentina Moskovina, Abiodun Onipinla, Leena Peltonen, Nadira Yuldasheva, Peter M. Nilsson, Valeria Romanazzi, Vincent Mooser, Göran Berglund, Alistair S. Hall, Dominic P. Kwiatkowski, Barry Widmer, Benjamin F. Voight, Stefania Bandinelli, Mark M. Iles, Sven Bergmann, Thomas Meitinger, James P. Boorman, Simonetta Guarrera, Nazneen Rahman, Murielle Bochud, Graham A. Hitman, Emma Keniry, Nelson B. Freimer, Richard Dobson, Francis S. Collins, Gerjan Navis, Jennifer L. Pointon, Richard N. Bergman, Ruth J. F. Loos, Roberto Lorbeer, Carolina A. Braga Marcano, Christian Gieger, Florian Ernst, Xin Yuan, Catherine Potter, Hazel E. Drummond, Allan H. Young, George Kirov, John F. Peden, Helen Stevens, David Clayton, Mattijs E. Numans, Katherine Gordon-Smith, Anne Farmer, Alastair Forbes, M. Khalid Mohiuddin, John A. Todd, Christopher G. Mathew, David A. Collier, Mark I. McCarthy, Francesca Bredin, Clive M. Onnie, Dan Davidson, Markus Perola, Pamela Whittaker, Yvonne T. van der Schouw, Rathi Ravindrarajan, I. C.A. Spencer, Teresa Ferreira, Nilesh J. Samani, Serge Hercberg, Gonçalo R. Abecasis, Christopher J. Groves, Nicholas John Craddock, Angela Döring, Edward G. Lakatta, Muminatou Jallow, Wendy L. McArdle, David Bentley, Susana Eyheramendy, Uwe Völker, Christopher Newton-Cheh, Jaspal S. Kooner, Hugh Watkins, Gavin Lucas, H. T. Leung, Marjo Ritta Jarvelin, Johanna Kuusisto, Wiek H. van Gilst, Wendy Thomson, Lou R. Cardon, Harold Snieder, Marju Orho-Melander, Patricia B. Munroe, Toshiko Tanaka, Jeffrey C. Barrett, Azhar Maqbool, Henry Völzke, John M. C. Connell, Elaine R. Nimmo, John R. B. Perry, Michael R. Stratton, Ralph McGinnis, Pekka Jousilahti, Michiel L. Bots, Ian Jones, Elizabeth Meech, Matthew A. Brown, Johannie Gungadoo, Jian'an Luan, Jilur Ghori, Richard J. Dixon, N. Charlotte Onland-Moret, Fulvio Ricceri, Anthony J. Balmforth, Catherine E. Todhunter, Inês Barroso, Sheila Bingham, Timo T. Valle, Fredrik O. Vannberg, Diana Zelenika, Stephen Sawcer, Anneli Pouta, David M. Evans, Cuno S. P. M. Uiterwaal, Pilar Galan, Georg Homuth, Hannah Donovan, David J. Conway, Paul Elliott, Alessandra Allione, Paul E. de Jong, Miles Parkes, Amy Chaney, John C. Chambers, Toby Johnson, Isaac Subirana, Vesela Gateva, Cathryn M. Lewis, Christopher J. O'Donnell, Hana Lango, David Schlessinger, Mark J. Caulfield, Thorsten Reffelmann, Jamie Barbour, Karen L. Mohlke, Sarah E. Hunt, Thilo Winzer, Frances M K Williams, Christopher Mathew, I. Wallace, Anuj Goel, Jaakko Tuomilehto, Louise V. Wain, Gabriel Crawford, Samantha L. Hider, Detelinea Grozeva, Elaine K. Green, Paul D. Gilbert, Peter S. Braund, Jaume Marrugat, Rainer Rettig, Pim van der Harst, Yik Ying Teo, Andrew P. Morris, Guiseppe Matullo, Serena Sanna, Cristen J. Willer, Suzannah Bumpstead, Niall C. Taylor, Jacques S. Beckmann, Pierre Meneton, Elin Org, Luigi Ferrucci, Doug Easton, Sheila Seal, Joanne M. Heward, Anne U. Jackson, Eleftheria Zeggini, Rachel M. Freathy, Maris Laan, Paul Wordsworth, Sarah Nutland, Kerstin Koch, Sian Ceasar, Anders Hamsten, Judith M. Hussey, Tariq Ahmad, Derek P. Jewell, Paul Scheet, Charlie W. Lees, C Farrar, Christopher Prowse, Markku Laakso, David St Clair, Kate Downes, Diederick E. Grobbee, Paul Burton, Simon C. Potter, Ian N. Bruce, Tim D. Spector, Anne Barton, H.-Erich Wichmann, Matthew J. Simmonds, David Hadley, Cecilia M. Lindgren, Gérard Waeber, Nigel W. Rayner, Melanie J. Newport, Manjinder S. Sandhu, Audrey Duncanson, Guangju Zhai, Simon Heath, Susan M. Ring, Alessandra Di Gregorio, Richard Williamson, Nicholas J. Wareham, Zhan Su, Olle Melander, John R. Thompson, Alexander Teumer, Sheila A. Fisher, Lachlan J. M. Coin, Leif Groop, Giovanni Tognoni, Amanda Elkin, Alan J. Silman, Jack Satsangi, Jane Worthington, Martin Farrall, John Webster, Niall Cardin, Neil Walker, Anna F. Dominiczak, Jeremy D. Sanderson, Damjan Vukcevic, Bryan Howie, Silvia Polidoro, Stephen G. Ball, Mark Tremelling, Stephen Newhouse, Stephen M. Schwartz, Lori L. Bonnycastle, Chris Wallace, Kijoung Song, Mario A. Morken, I. Nicol Ferrier, Beverley Barke, Paolo Vineis, Manuela Uda, Deborah P M Symmons, Emily J. Lyons, Mingzhan Xue, Timothy M. Frayling, Stephen C.L. Cough, David Withers, Adrian V. S. Hill, Suzanne Stevens, Jennifer Jolley, Marcus Dörr, Kirk A. Rockett, David B. Dunger, Mark Walker, Jayne A. Franklyn, Lisa Jones, David S. Siscovick, Ann-Christine Syvänen, Laura J. Scott, Morris J. Brown, Barbera Cant, Michael Inouye, Feng Zhang, Carlotta Sacerdote, Katherine S. Elliott, Jonathan Marchini, Peter Donnely, Michael John Owen, An Goris, Marcus Prembey, Andrew T. Hattersley, Gerome Breen, Marian L. Hamshere, Thomas Illig, Samer S. Najjar, Nicole Soranzo, Kay-Tee Khaw, Graham R. Walters, Willem H. Ouwehand, David P. Strachan, Martin D. Tobin, Alastair Compston, John C. Mansfield, David Altshuler, Salvatore Panico, Sekar Kathiresan, Dawn M. Waterworth, Michael N. Weedon, D. Timothy Bishop, Claire Bryan, Alexandra S. Knight, Kate L. Lee, Paul F. O'Reilly, Massimo Mangino, Michael Conlon O'Donovan, Jing Hua Zhao, Konstantinos A. Papadakis, Jennifer H. Barrett, Joanne Pereira-Gale, N J Timpson, Stephan B. Felix, Panos Deloukas, Nicholas A. Watkins, Anna-Liisa Hartikainen, Peter Vollenweider, Richard Jones, Anne Hinks, Fraser Cummings, Noha Lim, Linda A. Bradbury, Rhian G. William, Nita G. Forouhi, Roberto Eluosa, Ingeleif B. Hallgrimsdottir, Giorgio Sirugo, Robert Luben, Veikko Salomaa, Robert Clarke, Sally John, Ursula Everson, Emma King, Ivan Nikolov, Heather M. Stringham, Antony P. Attwood, Angelo Scuteri
Publikováno v:
Nature Genetics, vol. 41, no. 6, pp. 666-676
Nature Genetics; Vol 41
Nature Genetics, 41(6), 666-676. Nature Publishing Group
Nature Genetics, 41, 666. Nature Publishing Group
Newton-Cheh, C, Johnson, T, Gateva, V, Tobin, M D, Bochud, M, Coin, L, Najjar, S S, Zhao, J H, Heath, S C, Eyheramendy, S, Papadakis, K, Voight, B F, Scott, L J, Zhang, F, Farrall, M, Tanaka, T, Wallace, C, Chambers, J C, Khaw, K-T, Nilsson, P, van der Harst, P, Polidoro, S, Grobbee, D E, Onland-Moret, N C, Bots, M L, Wain, L V, Elliott, K S, Teumer, A, Luan, J, Lucas, G, Kuusisto, J, Burton, P R, Hadley, D, McArdle, W L, Brown, M, Dominiczak, A, Newhouse, S J, Samani, N J, Webster, J, Zeggini, E, Beckmann, J S, Bergmann, S, Lim, N, Song, K, Vollenweider, P, Waeber, G, Waterworth, D M, Yuan, X & Groop, L & Orho-Melander, M 2009, ' Genome-wide association study identifies eight loci associated with blood pressure ', Nature Genetics, vol. 41, no. 6, pp. 666-76 . https://doi.org/10.1038/ng.361
Nature genetics
Nature Genetics
Nature Genetics; Vol 41
Nature Genetics, 41(6), 666-676. Nature Publishing Group
Nature Genetics, 41, 666. Nature Publishing Group
Newton-Cheh, C, Johnson, T, Gateva, V, Tobin, M D, Bochud, M, Coin, L, Najjar, S S, Zhao, J H, Heath, S C, Eyheramendy, S, Papadakis, K, Voight, B F, Scott, L J, Zhang, F, Farrall, M, Tanaka, T, Wallace, C, Chambers, J C, Khaw, K-T, Nilsson, P, van der Harst, P, Polidoro, S, Grobbee, D E, Onland-Moret, N C, Bots, M L, Wain, L V, Elliott, K S, Teumer, A, Luan, J, Lucas, G, Kuusisto, J, Burton, P R, Hadley, D, McArdle, W L, Brown, M, Dominiczak, A, Newhouse, S J, Samani, N J, Webster, J, Zeggini, E, Beckmann, J S, Bergmann, S, Lim, N, Song, K, Vollenweider, P, Waeber, G, Waterworth, D M, Yuan, X & Groop, L & Orho-Melander, M 2009, ' Genome-wide association study identifies eight loci associated with blood pressure ', Nature Genetics, vol. 41, no. 6, pp. 666-76 . https://doi.org/10.1038/ng.361
Nature genetics
Nature Genetics
Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for assoc
Autor:
Simeoni I; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Stephens JC; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Hu F; Department of Haematology, University of Cambridge, Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;, Deevi SV; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Megy K; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Bariana TK; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;, Lentaigne C; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;, Schulman S; Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;, Sivapalaratnam S; Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;, Vries MJ; Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;, Westbury SK; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;, Greene D; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Papadia S; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Alessi MC; Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;, Attwood AP; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Ballmaier M; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;, Baynam G; School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia; Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia; Office of Population Health Genomics, WA Department of Health, East Perth, Australia; Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia; Telethon Kids Institute, Subiaco, Australia;, Bermejo E; Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;, Bertoli M; San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;, Bray PF; Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;, Bury L; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;, Cattaneo M; Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;, Collins P; Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;, Daugherty LC; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Favier R; Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;, French DL; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA;, Furie B; Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;, Gattens M; Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Germeshausen M; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;, Ghevaert C; Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Goodeve AC; Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;, Guerrero JA; Department of Haematology, University of Cambridge., Hampshire DJ; Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;, Hart DP; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;, Heemskerk JW; Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;, Henskens YM; Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;, Hill M; Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;, Hogg N; Cancer Research UK London Research Institute, London, United Kingdom;, Jolley JD; Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;, Kahr WH; Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;, Kelly AM; Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;, Kerr R; Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;, Kostadima M; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Kunishima S; Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;, Lambert MP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;, Liesner R; Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;, López JA; Puget Sound Blood Center, Research Institute, Seattle, WA;, Mapeta RP; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Mathias M; Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;, Millar CM; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;, Nathwani A; Department of Haematology, University College London Cancer Institute, London, United Kingdom;, Neerman-Arbez M; Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;, Nurden AT; Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;, Nurden P; Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;, Othman M; Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;, Peerlinck K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;, Perry DJ; Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Poudel P; Institute of Cancer Research, London, United Kingdom;, Reitsma P; Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;, Rondina MT; University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;, Smethurst PA; Department of Haematology, University of Cambridge, Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;, Stevenson W; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia; Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;, Szkotak A; Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;, Tuna S; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., van Geet C; Institute of Cancer Research, London, United Kingdom;, Whitehorn D; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Wilcox DA; Children's Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;, Zhang B; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;, Revel-Vilk S; Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;, Gresele P; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;, Bellissimo DB; Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;, Penkett CJ; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Laffan MA; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;, Mumford AD; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom; School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;, Rendon A; Department of Haematology, University of Cambridge, Genomics England Limited, London, United Kingdom; and., Gomez K; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;, Freson K; Institute of Cancer Research, London, United Kingdom;, Ouwehand WH; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom., Turro E; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;
Publikováno v:
Blood [Blood] 2016 Jun 09; Vol. 127 (23), pp. 2791-803. Date of Electronic Publication: 2016 Apr 15.
Autor:
Westbury SK; School of Clinical Sciences, University of Bristol, Bristol, UK., Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK ; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK ; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, UK., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK ; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK ; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, UK., Lentaigne C; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, UK ; Imperial College Healthcare NHS Trust, DuCane Road, London, UK., Kelly AM; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK ; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK., Bariana TK; Department of Haematology, University College London Cancer Institute, London, UK ; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK., Simeoni I; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK ; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK., Pillois X; Institut Hospitalo-Universitaire LIRYC, PTIB, Hôpital Xavier Arnozan, Pessac, France., Attwood A; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK ; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK., Austin S; Department of Haematology, Guys and St Thomas' NHS Foundation Trust, London, UK., Jansen SB; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK ; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK., Bakchoul T; Institut für Immunologie und Transfusionsmedizin Universitätsmedizin Ernst-Moritz-Arndt Universität, Greifswald, Germany., Crisp-Hihn A; 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Genome medicine [Genome Med] 2015 Apr 09; Vol. 7 (1), pp. 36. Date of Electronic Publication: 2015 Apr 09 (Print Publication: 2015).
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Nature [Nature] 2012 Oct 11; Vol. 490 (7419), pp. 267-72. Date of Electronic Publication: 2012 Sep 16.
Autor:
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Nature genetics [Nat Genet] 2012 Feb 26; Vol. 44 (4), pp. 435-9, S1-2. Date of Electronic Publication: 2012 Feb 26.