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Autor:
Grove, J., Ripke, S., Als, T.D., Mattheisen, M., Walters, R.K., Won, H., Pallesen, J., Agerbo, E., Andreassen, O.A., Anney, R., Awashti, S., Belliveau, R., Bettella, F., Buxbaum, J.D., Bybjerg-Grauholm, J., Baekvad-Hansen, M., Cerrato, F., Chambert, K., Christensen, J.H., Churchhouse, C., Dellenvall, K., Demontis, D., Rubeis, S. de, Devlin, B., Djurovic, S., Dumont, A.L., Goldstein, J.I., Hansen, C.S., Hauberg, M.E., Hollegaard, M.V., Hope, S., Howrigan, D.P., Huang, H., Hultman, C.M., Klei, L., Maller, J., Martin, J., Martin, A.R., Moran, J.L., Nyegaard, M., Naeland, T., Palmer, D.S., Palotie, A., Pedersen, C.B., Pedersen, M.G., dPoterba, T., Poulsen, J.B., St Pourcain, B., Qvist, P., Rehnstrom, K., Reichenberg, A., Reichert, J., Robinson, E.B., Roeder, K., Roussos, P., Saemundsen, E., Sandin, S., Satterstrom, F.K., Smith, G.D., Stefansson, H., Steinberg, S., Stevens, C.R., Sullivan, P.F., Turley, P., Walters, G.B., Xu, X.Y., Stefansson, K., Geschwind, D.H., Nordentoft, M., Hougaard, D.M., Werge, T., Mors, O., Mortensen, P.B., Neale, B.M., Daly, M.J., Borglum, A.D., Wray, N.R., Trzaskowski, M., Byrne, E.M., Abdellaoui, A., Adams, M.J., Air, T.M., Andlauer, T.F.M., Bacanu, S.A., Beekman, A.T.F., Bigdeli, T.B., Binder, E.B., Blackwood, D.H.R., Bryois, J., Buttenschon, H.N., Cai, N., Castelao, E., Clarke, T.K., Coleman, J.R.I., Colodro-Conde, L., Couvy-Duchesne, B., Craddock, N., Crawford, G.E., Davies, G., Deary, I.J., Degenhardt, F., Derks, E.M., Direk, N., Dolan, C.V., Dunn, E.C., Eley, T.C., Escott-Price, V., Kiadeh, F.F.H., Finucane, H.K., Forstner, A.J., Frank, J., Gaspar, H.A., Gill, M., Goes, F.S., Gordon, S.D., Hall, L.S., Hansen, T.F., Herms, S., Hickie, I.B., Hoffmann, P., Homuth, G., Horn, C., Hottenga, J.J., Ising, M., Jansen, R., Jorgenson, E., Knowles, J.A., Kohane, I.S., Kraft, J., Kretzschmar, W.W., Krogh, J., Kutalik, Z., Li, Y., Lind, P.A., MacIntyre, D.J., MacKinnon, D.F., Maier, R.M., Maier, W., Marchini, J., Mbarek, H., McGrath, P., McGuffin, P., Medland, S.E., Mehta, D., Middeldorp, C.M., Mihailov, E., Milaneschi, Y., Milani, L., Mondimore, F.M., Montgomery, G.W., Mostafavi, S., Mullins, N., Nauck, M., Ng, B., Nivard, M.G., Nyholt, D.R., O'Reilly, P.F., Oskarsson, H., Owen, M.J., Painter, J.N., Peterson, R.E., Pettersson, E., Peyrot, W.J., Pistis, G., Posthuma, D., Quiroz, J.A., Rice, J.P., Riley, B.P., Rivera, M., Mirza, S.S., Schoevers, R., Schulte, E.C., Shen, L., Shi, J.X., Shyn, S.I., Sigurdsson, E., Sinnamon, G.C.B., Smit, J.H., Smith, D.J., Streit, F., Strohmaier, J., Tansey, K.E., Teismann, H., Teumer, A., Thompson, W., Thomson, P.A., Thorgeirsson, T.E., Traylor, M., Treutlein, J., Trubetskoy, V., Uitterlinden, A.G., Umbricht, D., Auwera, S. van der, Hemert, A.M. van, Viktorin, A., Visscher, P.M., Wang, Y.P., Webb, B.T., Weinsheimer, S.M., Wellmann, J., Willemsen, G., Witt, S.H., Wu, Y., Xi, H.S., Yang, J., Zhang, F.T., Arolt, V., Baune, B.T., Berger, K., Boomsma, D.I., Cichon, S., Dannlowski, U., Geus, E.J.C. de, DePaulo, J.R., Domenici, E., Domschke, K., Esko, T., Grabe, H.J., Hamilton, S.P., Hayward, C., Heath, A.C., Kendler, K.S., Kloiber, S., Lewis, G., Li, Q.S., Lucae, S., Madden, P.A.F., Magnusson, P.K., Martin, N.G., McIntosh, A.M., Metspalu, A., Muller-Myhsok, B., Nothen, M.M., O'Donovan, M.C., Paciga, S.A., Pedersen, N.L., Penninx, B.W.J.H., Perlis, R.H., Porteous, D.J., Potash, J.B., Preisig, M., Rietschel, M., Schaefer, C., Schulze, T.G., Smoller, J.W., Tiemeier, H., Uher, R., Volzke, H., Weissman, M.M., Lewis, C.M., Levinson, D.F., Breen, G., Agee, M., Alipanahi, B., Auton, A., Bell, R.K., Bryc, K., Elson, S.L., Fontanillas, P., Furlotte, N.A., Hromatka, B.S., Huber, K.E., Kleinman, A., Litterman, N.K., McIntyre, M.H., Mountain, J.L., Noblin, E.S., Northover, C.A.M., Pitts, S.J., Sathirapongsasuti, J.F., Sazonova, O.V., Shelton, J.F., Shringarpure, S., Tung, J.Y., Vacic, V., Wilson, C.H., Psychiat Genomics Consortium, BUPGEN, 23andMe Re
Publikováno v:
NATURE GENETICS
Nature Genetics, 51(3), 431-444. Nature Publishing Group
Grove, J, Ripke, S, Als, T D, Mattheisen, M, Walters, R K, Won, H, Pallesen, J, Agerbo, E, Andreassen, O A, Anney, R, Awashti, S, Belliveau, R, Bettella, F, Buxbaum, J D, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Christensen, J H, Churchhouse, C, Dellenvall, K, Demontis, D, De Rubeis, S, Devlin, B, Djurovic, S, Dumont, A L, Goldstein, J I, Hansen, C S, Hauberg, M E, Hollegaard, M V, Hope, S, Howrigan, D P, Huang, H, Hultman, C M, Klei, L, Maller, J, Martin, J, Pedersen, C B, Davey Smith, G, Pourcain, B S & the 23 and Me Research Team 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature genetics, 51(3), 431-444. Nature Publishing Group
Maller, J, Martin, J, Martin, A, Moran, J, Nyegaard, M, Naerland, T, Palmer, D, Palotie, A, Bocker Perdersen, C, Giortz Pedersen, M, dPoterba, T, Buchhave Poulsen, J, St Poucain, B, Qvist, P, Rehnstrom, K, Reichenberg, A, Reichert, J, Robinson, E B, Roeder, K, Roussos, P, Saemundsen, E, Sandin, S, Satterstrom, F K, Smith, G D, Stefansson, H, Steinberg, S, Stevens, C R, Sullivan, P F, Turley, P, Walters, G B, Xu, X, Stefansson, K, Geschwind, D H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O & Mortensen, P B & Neale, B M & Daly, M J & Borglum, A D 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-+ . https://doi.org/10.1038/s41588-019-0344-8
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Grove, J, Abdellaoui, A, Derks, E M, Dolan, C V, Hottenga, J J, Jansen, R, Mbarek, H, Middeldorp, C M, Milaneschi, Y, Nivard, M G, Posthuma, D, Willemsen, G, Boomsma, D I, de Geus, E J C, Penninx, B W J H, Børglum, A D, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium & 23Andme Research Team 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature Genetics
Nature Genetics, 51(3), 431-+. Nature Publishing Group
Grove, J, Ripke, S, Als, T D, Mattheisen, M, Walters, R K, Won, H, Pallesen, J, Agerbo, E, Andreassen, O A, Anney, R, Awashti, S, Belliveau, R, Bettella, F, Buxbaum, J D, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Christensen, J H, Churchhouse, C, Dellenvall, K, Demontis, D, de Rubeis, S, Devlin, B, Djurovic, S, Dumont, A L, Goldstein, J I, Hansen, C S, Hauberg, M E, Hollegaard, M V, Beekman, A T F, Jansen, R, Middeldorp, C M, Milaneschi, Y, Peyrot, W J, Posthuma, D, Schoevers, R, Smit, J H, de Geus, E J C, Smit, J H, de Geus, E J C, Penninx, B W J H, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Stefansson, K, Geschwind, D H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O, Bo Mortensen, P, Neale, B M, Daly, M J & Børglum, A D 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature Genetics, 51(3), 431-+. NATURE PUBLISHING GROUP
Grove, J, Ripke, S, Als, T D, Mattheisen, M, Walters, R K, Won, H, Pallesen, J, Agerbo, E, Andreassen, O A, Anney, R, Awashti, S, Belliveau, R, Bettella, F, Buxbaum, J D, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Christensen, J H, Churchhouse, C, Dellenvall, K, Demontis, D, De Rubeis, S, Devlin, B, Djurovic, S, Dumont, A L, Goldstein, J I, Hansen, C S, Hauberg, M E, Hollegaard, M V, Hope, S, Howrigan, D P, Huang, H, Hultman, C M, Klei, L, Maller, J, Martin, J, Martin, A R, Moran, J L, Nyegaard, M, Nærland, T, Palmer, D S, Palotie, A, Pedersen, C B, Pedersen, M G, dPoterba, T, Poulsen, J B, Pourcain, B S, Qvist, P, Rehnström, K, Reichenberg, A, Reichert, J, Robinson, E B, Roeder, K, Roussos, P, Saemundsen, E, Sandin, S, Satterstrom, F K, Smith, G D, Stefansson, H, Steinberg, S, Stevens, C, Sullivan, P F, Turley, P, Walters, G B, Xu, X, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Stefansson, K, Geschwind, D H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O, Mortensen, P B, Neale, B M, Daly, M J & Børglum, A D 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature Genetics, 51(3), 431-444. Nature Publishing Group
Grove, J, Ripke, S, Als, T D, Mattheisen, M, Walters, R K, Won, H, Pallesen, J, Agerbo, E, Andreassen, O A, Anney, R, Awashti, S, Belliveau, R, Bettella, F, Buxbaum, J D, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Christensen, J H, Churchhouse, C, Dellenvall, K, Demontis, D, De Rubeis, S, Devlin, B, Djurovic, S, Dumont, A L, Goldstein, J I, Hansen, C S, Hauberg, M E, Hollegaard, M V, Hope, S, Howrigan, D P, Huang, H, Hultman, C M, Klei, L, Maller, J, Martin, J, Pedersen, C B, Davey Smith, G, Pourcain, B S & the 23 and Me Research Team 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature genetics, 51(3), 431-444. Nature Publishing Group
Maller, J, Martin, J, Martin, A, Moran, J, Nyegaard, M, Naerland, T, Palmer, D, Palotie, A, Bocker Perdersen, C, Giortz Pedersen, M, dPoterba, T, Buchhave Poulsen, J, St Poucain, B, Qvist, P, Rehnstrom, K, Reichenberg, A, Reichert, J, Robinson, E B, Roeder, K, Roussos, P, Saemundsen, E, Sandin, S, Satterstrom, F K, Smith, G D, Stefansson, H, Steinberg, S, Stevens, C R, Sullivan, P F, Turley, P, Walters, G B, Xu, X, Stefansson, K, Geschwind, D H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O & Mortensen, P B & Neale, B M & Daly, M J & Borglum, A D 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-+ . https://doi.org/10.1038/s41588-019-0344-8
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Grove, J, Abdellaoui, A, Derks, E M, Dolan, C V, Hottenga, J J, Jansen, R, Mbarek, H, Middeldorp, C M, Milaneschi, Y, Nivard, M G, Posthuma, D, Willemsen, G, Boomsma, D I, de Geus, E J C, Penninx, B W J H, Børglum, A D, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium & 23Andme Research Team 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature Genetics
Nature Genetics, 51(3), 431-+. Nature Publishing Group
Grove, J, Ripke, S, Als, T D, Mattheisen, M, Walters, R K, Won, H, Pallesen, J, Agerbo, E, Andreassen, O A, Anney, R, Awashti, S, Belliveau, R, Bettella, F, Buxbaum, J D, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Christensen, J H, Churchhouse, C, Dellenvall, K, Demontis, D, de Rubeis, S, Devlin, B, Djurovic, S, Dumont, A L, Goldstein, J I, Hansen, C S, Hauberg, M E, Hollegaard, M V, Beekman, A T F, Jansen, R, Middeldorp, C M, Milaneschi, Y, Peyrot, W J, Posthuma, D, Schoevers, R, Smit, J H, de Geus, E J C, Smit, J H, de Geus, E J C, Penninx, B W J H, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Stefansson, K, Geschwind, D H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O, Bo Mortensen, P, Neale, B M, Daly, M J & Børglum, A D 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature Genetics, 51(3), 431-+. NATURE PUBLISHING GROUP
Grove, J, Ripke, S, Als, T D, Mattheisen, M, Walters, R K, Won, H, Pallesen, J, Agerbo, E, Andreassen, O A, Anney, R, Awashti, S, Belliveau, R, Bettella, F, Buxbaum, J D, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Christensen, J H, Churchhouse, C, Dellenvall, K, Demontis, D, De Rubeis, S, Devlin, B, Djurovic, S, Dumont, A L, Goldstein, J I, Hansen, C S, Hauberg, M E, Hollegaard, M V, Hope, S, Howrigan, D P, Huang, H, Hultman, C M, Klei, L, Maller, J, Martin, J, Martin, A R, Moran, J L, Nyegaard, M, Nærland, T, Palmer, D S, Palotie, A, Pedersen, C B, Pedersen, M G, dPoterba, T, Poulsen, J B, Pourcain, B S, Qvist, P, Rehnström, K, Reichenberg, A, Reichert, J, Robinson, E B, Roeder, K, Roussos, P, Saemundsen, E, Sandin, S, Satterstrom, F K, Smith, G D, Stefansson, H, Steinberg, S, Stevens, C, Sullivan, P F, Turley, P, Walters, G B, Xu, X, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Stefansson, K, Geschwind, D H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O, Mortensen, P B, Neale, B M, Daly, M J & Børglum, A D 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Published in final edited form as: Nat Genet. 2019 March ; 51(3): 431–444. doi:10.1038/s41588-019-0344-8.
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% o
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c44d1833f2fd2c00737f8057983ac2
http://livrepository.liverpool.ac.uk/3045243/1/_NG-A47659R1_Borglum_Edver_1543433314_1_1543434422_1_final20181204.docx
http://livrepository.liverpool.ac.uk/3045243/1/_NG-A47659R1_Borglum_Edver_1543433314_1_1543434422_1_final20181204.docx
Autor:
Nersisyan, Lilit, Nikoghosyan, Maria, Arakelyan, Arsen, Francioli, Laurent, Menelaou, A. (Androniki), Pulit, S.L. (Sara L.), Elbers, C.C. (Clara C.), Kloosterman, Wigard, van Setten, J. (Jessica), Nijman, Isaac, Renkens, Ivo, de Bakker, P.I.W. (Paul I. W.), Dijk, Freerk, Neerincx, Pieter, Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, H. (Heorhiy), van der Velde, K.J. (K. Joeri), Platteel, Mathieu, Swertz, M.A. (Morris A.), Wijmenga, Cisca, Palamara, P.F. (Pier Francesco), Pe’er, I. (Itsik), Ye, K. (Kai), Lameijer, Eric-Wubbo, Moed, M.H. (Matthijs H.), Beekman, M. (Marian), Craen, Anton, Suchiman, H.E.D. (H. Eka D.), Slagboom, Eline, Guryev, Victor, Abdellaoui, Abdel, Jan Hottenga, J. (Jouke), Kattenberg, M. (Mathijs), Willemsen, Gonneke, Boomsma, Dorret, van Leeuwen, E.M. (Elisabeth M.), Karssen, Lennart, Amin, N. (Najaf), Rivadeneira, F. (Fernando), Isaacs, A. (Aaron), Hofman, A. (Albert), Uitterlinden, André, Duijn, Cornelia, van Oven, M. (Mannis), Kayser, M. (Manfred), Vermaat, Martijn, Laros, Jeroen, Dunnen, Johan, Enckevort, David, Mei, Hailiang, Li, M. (Mingkun), Stoneking, M. (Mark), Schaik, Barbera, Bot, Jan, Marschall, Tobias, Schönhuth, Alexander, Hehir-Kwa, Jayne, Handsaker, Robert, Polak, P. (Paz), Sohail, M. (Mashaal), Vuzman, D. (Dana), Estrada, Karol, McCarroll, S.A. (Steven A.), Sunyaev, S.R. (Shamil R.), Hormozdiari, Fereydoun, Koval, Vyacheslav, Medina-Gomez, C. (Carolina), Oostra, B. (Ben), Veldink, Jan, van den Berg, L.H. (Leonard H.), Pitts, S.J. (Steven J.), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D.R. (David R.), Knijff, Peter, Li, Q. (Qibin), Li, Y. (Yingrui), Du, Yuanping, Chen, Ruoyan, Cao, H. (Hongzhi), Wang, J. (Jun), Li, N. (Ning), Cao, S. (Sujie), Bovenberg, Jasper, Ommen, Gert-Jan, The Genome of the Netherlands Consortium
Publikováno v:
Nersisyan, L, Nikoghosyan, M, Francioli, L C, Menelaou, A, Pulit, S L, Elbers, C C, Kloosterman, W P, van Setten, J, Nijman, I J, Renkens, I, de Bakker, P I W, van Dijk, F, Neerincx, P B T, Deelen, P, Kanterakis, A, Dijkstra, M, Byelas, H, van der Velde, K J, Platteel, M, Swertz, M A, Wijmenga, C, Palamara, P F, Pe'er, I, Ye, K, Lameijer, E-W, Moed, M H, Beekman, M, de Craen, A J M, Suchiman, H E D, Slagboom, P E, Guryev, V, Abdellaoui, A, Hottenga, J J, Kattenberg, M, Willemsen, G, Boomsma, D I, van Leeuwen, E M, Karssen, L C, Amin, N, Rivadeneira, F, Isaacs, A, Hofman, A, Uitterlinden, A G, van Duijn, C M, van Oven, M, Kayser, M, Vermaat, M, Laros, J F J, den Dunnen, J T, van Enckevort, D, Mei, H, Li, M, Stoneking, M, van Schaik, B D C, Bot, J, Marschall, T, Schonhuth, A, Hehir-Kwa, J Y, Handsaker, R E, Polak, P, Sohail, M, Vuzman, D, Estrada, K, McCarroll, S A, Sunyaev, S R, Hormozdiari, F, Koval, V, Medina-Gomez, C, Oostra, B, Veldink, J H, van den Berg, L H, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, de Knijff, P, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Wang, J, Li, N, Cao, S, Bovenberg, J A, van Ommen, G-J B & Arakelyan, A 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, 18758 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports, 9(1):18758, 1-9. Nature Publishing Group
Scientific Reports, 9(1):18758. Nature Publishing Group
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, 9. NATURE PUBLISHING GROUP
Nature Scientific Reports, 9(1)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, 9:18758. Nature Publishing Group
Scientific reports, 9(1):18758. Nature Publishing Group
Scientific reports, vol 9, iss 1
Nersisyan, L, Arakelyan, A, Abdellaoui, A, Jan Hottenga, J, Kattenberg, M, Willemsen, G, Boomsma, D I & The Genome of the Netherlands consortium 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, no. 1, 18758, pp. 1-9 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports
Scientific Reports, 9(1):18758, 1-9. Nature Publishing Group
Scientific Reports, 9(1):18758. Nature Publishing Group
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, 9. NATURE PUBLISHING GROUP
Nature Scientific Reports, 9(1)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, 9:18758. Nature Publishing Group
Scientific reports, 9(1):18758. Nature Publishing Group
Scientific reports, vol 9, iss 1
Nersisyan, L, Arakelyan, A, Abdellaoui, A, Jan Hottenga, J, Kattenberg, M, Willemsen, G, Boomsma, D I & The Genome of the Netherlands consortium 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, no. 1, 18758, pp. 1-9 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports
Telomere length (TL) regulation is an important factor in ageing, reproduction and cancer development. Genetic, hereditary and environmental factors regulating TL are currently widely investigated, however, their relative contribution to TL variabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbec0f3bca0eb566284734623f469e3
https://curis.ku.dk/ws/files/237702127/WGS_based_telomere_length_analysis_in_Dutch_family_trios_implicates_stronger_maternal_inheritance_and_a_role_for_RRM1_gene.pdf
https://curis.ku.dk/ws/files/237702127/WGS_based_telomere_length_analysis_in_Dutch_family_trios_implicates_stronger_maternal_inheritance_and_a_role_for_RRM1_gene.pdf
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Autor:
Francioli, L.C., Polak, P.P., Koren, A., Menelaou, A., Chun, S., Renkens, I., van Duijn, C.M., Swertz, M.A., Wijmenga, C., van Ommen, G.J., Slagboom, P.E., Boomsma, D.I., Ye, K., Guryev, V., Arndt, P.F., Kloosterman, W.P., Bakker, P.I.W., Sunyaev, S.R., Dijk, F., Neerincx, P.B.T., Pulit, S.L., Deelen, P., Elbers, C.C., Palamara, P.F., Pe'er, I., Abdellaoui, A., van Oven, M., Vermaat, M., Li, M., Laros, J.F.J., Stoneking, M., de Knijff, P., Kayser, M., Veldink, J.H., Van den Berg, L.H., Byelas, H., den Dunnen, J.T., Dijkstra, M., Amin, N., van der Velde, K.J., Hottenga, J.J., van Setten, J., van Leeuwen, E.M., Kanterakis, A., Kattenberg, V.M., Karssen, L.C., van Schaik, B.D.C., Bot, J., Nijman, I.J., van Enckevort, D., Mei, H., Koval, V., Estrada, K., Medina-Gomez, C., Lameijer, E.W., Moed, M.H., Hehir-Kwa, J.Y., Handsaker, R.E., McCarroll, S.A., Vuzman, D., Sohail, M., Hormozdiari, F., Marschall, T., Schönhuth, A., Beekman, M., de Craen, A.J., Suchiman, H.E.D., Hofman, A., Oostra, B., Isaacs, A., Rivadeneira, F., Uitterlinden, A.G., Willemsen, G., Platteel, M., Pitts, S.J., Potluri, S., Sundar, P., Cox, D.R., Li, Q., Li, Y., Du, Y., Chen, R., Cao, H., Li, N., Cao, S., Wang, J., Bovenberg, J.A., Brandsma, M.
Publikováno v:
Nature Genetics, 47(7), 822-826.e3. Nature Publishing Group
Nature Genetics
Nature Genetics, 47(7), 822-826. Nature Publishing Group
Nature genetics
Nature Genetics, 47(7), 822-+. Nature Publishing Group
Nature Genetics, 47(7), 822
Francioli, L C, Polak, P P, Koren, A, Menelaou, A, Chun, S, Renkens, I, van Duijn, C M, Swertz, M A, Wijmenga, C, van Ommen, G J, Slagboom, P E, Boomsma, D I, Ye, K, Guryev, V, Arndt, P F, Kloosterman, W P, Bakker, P I W, Sunyaev, S R, Dijk, F, Neerincx, P B T, Pulit, S L, Deelen, P, Elbers, C C, Palamara, P F, Pe'er, I, Abdellaoui, A, van Oven, M, Vermaat, M, Li, M, Laros, J F J, Stoneking, M, de Knijff, P, Kayser, M, Veldink, J H, Van den Berg, L H, Byelas, H, den Dunnen, J T, Dijkstra, M, Amin, N, van der Velde, K J, Hottenga, J J, van Setten, J, van Leeuwen, E M, Kanterakis, A, Kattenberg, V M, Karssen, L C, van Schaik, B D C, Bot, J, Nijman, I J, van Enckevort, D, Mei, H, Koval, V, Estrada, K, Medina-Gomez, C, Lameijer, E W, Moed, M H, Hehir-Kwa, J Y, Handsaker, R E, McCarroll, S A, Vuzman, D, Sohail, M, Hormozdiari, F, Marschall, T, Schönhuth, A, Beekman, M, de Craen, A J, Suchiman, H E D, Hofman, A, Oostra, B, Isaacs, A, Rivadeneira, F, Uitterlinden, A G, Willemsen, G, Platteel, M, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, J A & Brandsma, M 2015, ' Genome-wide patterns and properties of de novo mutations in humans ', Nature Genetics, vol. 47, no. 7, pp. 822-826 . https://doi.org/10.1038/ng.3292
Nature Genetics
Nature Genetics, 47(7), 822-826. Nature Publishing Group
Nature genetics
Nature Genetics, 47(7), 822-+. Nature Publishing Group
Nature Genetics, 47(7), 822
Francioli, L C, Polak, P P, Koren, A, Menelaou, A, Chun, S, Renkens, I, van Duijn, C M, Swertz, M A, Wijmenga, C, van Ommen, G J, Slagboom, P E, Boomsma, D I, Ye, K, Guryev, V, Arndt, P F, Kloosterman, W P, Bakker, P I W, Sunyaev, S R, Dijk, F, Neerincx, P B T, Pulit, S L, Deelen, P, Elbers, C C, Palamara, P F, Pe'er, I, Abdellaoui, A, van Oven, M, Vermaat, M, Li, M, Laros, J F J, Stoneking, M, de Knijff, P, Kayser, M, Veldink, J H, Van den Berg, L H, Byelas, H, den Dunnen, J T, Dijkstra, M, Amin, N, van der Velde, K J, Hottenga, J J, van Setten, J, van Leeuwen, E M, Kanterakis, A, Kattenberg, V M, Karssen, L C, van Schaik, B D C, Bot, J, Nijman, I J, van Enckevort, D, Mei, H, Koval, V, Estrada, K, Medina-Gomez, C, Lameijer, E W, Moed, M H, Hehir-Kwa, J Y, Handsaker, R E, McCarroll, S A, Vuzman, D, Sohail, M, Hormozdiari, F, Marschall, T, Schönhuth, A, Beekman, M, de Craen, A J, Suchiman, H E D, Hofman, A, Oostra, B, Isaacs, A, Rivadeneira, F, Uitterlinden, A G, Willemsen, G, Platteel, M, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, J A & Brandsma, M 2015, ' Genome-wide patterns and properties of de novo mutations in humans ', Nature Genetics, vol. 47, no. 7, pp. 822-826 . https://doi.org/10.1038/ng.3292
Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect(1-10). Here we analyze 11,020 de novo mutations from the whole genomes of 250 familie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcffa53d5a79b0ce9e9a5a500dbe44cb
https://research.rug.nl/en/publications/eb8bb667-af9e-4a22-b523-97671a070699
https://research.rug.nl/en/publications/eb8bb667-af9e-4a22-b523-97671a070699
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