Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Conrad, Df"'
Autor:
Wyrwoll, MJ, Gaasbeek, CM, Golubickaite, I, Stakaitis, R, Oud, MS, Nagirnaja, L, Dion, C, Sindi, EB, Leitch, HG, Jayasena, CN, Sironen, A, Dicke, A-K, Rotte, N, Stallmeyer, B, Kliesch, S, Grangeiro, CHP, Araujo, TF, Lasko, P, Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers, K, Smits, RM, Ramos, L, Xavier, MJ, Conrad, DF, Almstrup, K, Veltman, JA, Tüttelmann, F, Van der Heijden, GW
Publikováno v:
Wyrwoll, M J, Gaasbeek, C M, Golubickaite, I, Stakaitis, R, Oud, M S, Nagirnaja, L, Dion, C, Sindi, E B, Leitch, H G, Jayasena, C N, Sironen, A, Dicke, A-K, Rotte, N, Stallmeyer, B, Kliesch, S, Grangeiro, C H P, Araujo, T F, Lasko, P, D'Hauwers, K, Smits, R M, Ramos, L, Xavier, M J, Conrad, D F, Almstrup, K, Veltman, J A, Tüttelmann, F, van der Heijden, G W & Genetics of Male Infertility Initiative (GEMINI) consortium 2022, ' The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans ', American Journal of Human Genetics, vol. 109, no. 10, pp. 1850-1866 . https://doi.org/10.1016/j.ajhg.2022.09.002
American Journal of Human Genetics, 109, 10, pp. 1850-1866
American Journal of Human Genetics, 109, 1850-1866
American Journal of Human Genetics, 109, 10, pp. 1850-1866
American Journal of Human Genetics, 109, 1850-1866
Contains fulltext : 282942.pdf (Publisher’s version ) (Open Access) Infertility affects around 7% of the male population and can be due to severe spermatogenic failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651bdd0e39b0065428325e62a6a8c971
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/282942
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/282942
Autor:
Houston, BJ, Riera-Escamilla, A, Wyrwoll, MJ, Salas-Huetos, A, Xavier, MJ, Nagirnaja, L, Friedrich, C, Conrad, DF, Aston, KI, Krausz, C, Tuttelmann, F, O'Bryan, MK, Veltman, JA, Oud, MS
Publikováno v:
HUMAN REPRODUCTION UPDATE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
BACKGROUND: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7dd2d6af768fb35148a10f9dbfa4ae3a
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7702
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7702
Autor:
Hardy, JJ, Wyrwoll, MJ, Mcfadden, W, Malcher, A, Rotte, N, Pollock, NC, Munyoki, S, Veroli, MV, Houston, BJ, Xavier, MJ, Kasak, L, Punab, M, Laan, M, Kliesch, S, Schlegel, P, Jaffe, T, Hwang, K, Vukina, J, Brieno-Enriquez, MA, Orwig, K, Yanowitz, J, Buszczak, M, Veltman, JA, Oud, M, Nagirnaja, L, Olszewska, M, O'Bryan, MK, Conrad, DF, Kurpisz, M, Tuttelmann, F, Yatsenko, AN, Krausz C.G., GEMINI Consortium
Publikováno v:
HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Male infertility impacts millions of couples yet, the etiology of primary infertility remains largely unknown. A critical element of successful spermatogenesis is maintenance of genome integrity. Here, we present a genomic study of spermatogenic fail
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::cc2d66cd1c29200ee21563e9d8377f49
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4741
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4741
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
Akademický článek
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Akademický článek
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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:
Ogloblinsky MC; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Bocher O; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Institute of Translational Genomics, Helmholtz Zentrum München, Munich, Germany., Aloui C; Inserm, NeuroDiderot, Unité Mixte de Recherche, Université Paris Cité, Paris, France., Leutenegger AL; Inserm, NeuroDiderot, Unité Mixte de Recherche, Université Paris Cité, Paris, France., Ozisik O; INSERM, Marseille Medical Genetics (MMG), Aix Marseille University, Marseille, France., Baudot A; INSERM, Marseille Medical Genetics (MMG), Aix Marseille University, Marseille, France., Tournier-Lasserve E; Inserm, NeuroDiderot, Unité Mixte de Recherche, Université Paris Cité, Paris, France.; Assistance Publique-Hôpitaux de Paris, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France., Castillo-Madeen H; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, Oregon, USA., Lewinsohn D; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, Oregon, USA., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, Oregon, USA., Génin E; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Centre Hospitalier Régional Universitaire de Brest, Brest, France., Marenne G; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
Publikováno v:
Genetic epidemiology [Genet Epidemiol] 2024 Sep 24. Date of Electronic Publication: 2024 Sep 24.
Autor:
Stallmeyer B; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Bühlmann C; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Stakaitis R; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Portland, OR, USA.; Laboratory of Molecular Neurooncology, Neuroscience Institute, Lithuanian University of Health Sciences, Kaunas, Lithuania., Dicke AK; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Ghieh F; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Meier L; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Zoch A; Centre for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, UK.; Wellcome Centre for Cell Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK., MacKenzie MacLeod D; Centre for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, UK.; Wellcome Centre for Cell Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK., Steingröver J; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Okutman Ö; Laboratoire de Génétique Médicale LGM, institut de génétique médicale d'Alsace IGMA, INSERM UMR 1112, Université de Strasbourg, Strasbourg, France.; Hôpital Universitaire de Bruxelles, Hôpital Erasme, Service de Gynécologie-Obstétrique, Clinique de Fertilité, Université libre de Bruxelles (ULB), Bruxelles, Belgium., Fietz D; Institute of Veterinary Anatomy, Histology and Embryology, Justus-Liebig-Universität Gießen, Gießen, Germany., Pilatz A; Clinic for Urology, Paediatric Urology and Andrology, Justus Liebig University Gießen, Gießen, Germany., Riera-Escamilla A; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau, Barcelona, Catalonia, Spain., Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Ruckert C; Centre of Medical Genetics, Department of Medical Genetics, University of Münster, Münster, Germany., Di Persio S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany., Neuhaus N; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany., Gurbuz AS; Department of Gynecology and Obstetrics Novafertil IVF Center, Konya, Turkey., Şalvarci A; Department of Andrology Novafertil IVF Center, Konya, Turkey., Le May N; Laboratoire de Génétique Médicale LGM, institut de génétique médicale d'Alsace IGMA, INSERM UMR 1112, Université de Strasbourg, Strasbourg, France., McEleny K; Newcastle Fertility Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Friedrich C; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., van der Heijden G; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, The Netherlands., Wyrwoll MJ; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany.; Centre for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, UK., Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Krausz C; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau, Barcelona, Catalonia, Spain.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', University of Florence, University Hospital Careggi, Florence, Italy., Viville S; Laboratoire de Génétique Médicale LGM, institut de génétique médicale d'Alsace IGMA, INSERM UMR 1112, Université de Strasbourg, Strasbourg, France.; Laboratoire de Diagnostic Génétique, UF3472-génétique de l'infertilité, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Portland, OR, USA., O'Carroll D; Centre for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, UK.; Wellcome Centre for Cell Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK., Tüttelmann F; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany. frank.tuettelmann@ukmuenster.de.
Publikováno v:
Nature communications [Nat Commun] 2024 Aug 09; Vol. 15 (1), pp. 6637. Date of Electronic Publication: 2024 Aug 09.
Autor:
Houston BJ; School of BioSciences and Bio21 Molecular Sciences and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia. brendan.houston@unimelb.edu.au., Nguyen J; School of BioSciences and Bio21 Molecular Sciences and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Merriner DJ; School of BioSciences and Bio21 Molecular Sciences and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., O'Connor AE; School of BioSciences and Bio21 Molecular Sciences and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Lopes AM; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal., Nagirnaja L; Division of Genetics, Oregon National Primate Research Center, Beaverton, OR, USA.; Genetics of Male Infertility Initiative (GEMINI) Consortium, Beaverton, OR, USA., Friedrich C; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Kliesch S; Centre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster, Münster, Germany., Tüttelmann F; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany.; International Male Infertility Genomics Consortium (IMIGC), Newcastle-upon-Tyne, UK., Aston KI; Genetics of Male Infertility Initiative (GEMINI) Consortium, Beaverton, OR, USA.; International Male Infertility Genomics Consortium (IMIGC), Newcastle-upon-Tyne, UK.; Department of Surgery (Urology), University of Utah, Salt Lake City, UT, USA., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Beaverton, OR, USA.; Genetics of Male Infertility Initiative (GEMINI) Consortium, Beaverton, OR, USA.; International Male Infertility Genomics Consortium (IMIGC), Newcastle-upon-Tyne, UK., Hobbs RM; Centre for Reproductive Health, Hudson Institute of Medical Research, Clayton, VIC, Australia.; Department of Molecular and Translational Sciences, School of Clinical Sciences, Monash University, Clayton, VIC, Australia., Dunleavy JEM; School of BioSciences and Bio21 Molecular Sciences and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., O'Bryan MK; School of BioSciences and Bio21 Molecular Sciences and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia. moira.obryan@unimelb.edu.au.; Genetics of Male Infertility Initiative (GEMINI) Consortium, Beaverton, OR, USA. moira.obryan@unimelb.edu.au.; International Male Infertility Genomics Consortium (IMIGC), Newcastle-upon-Tyne, UK. moira.obryan@unimelb.edu.au.
Publikováno v:
Cell death & disease [Cell Death Dis] 2024 Jul 12; Vol. 15 (7), pp. 499. Date of Electronic Publication: 2024 Jul 12.