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Autor:
McRae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Banka, S, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McKee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O’Shea, R, Ogilvie, C, Ong, K-R, Park, S-M, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Vogt, J, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellåker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME
Publikováno v:
2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062
Deciphering Developmental Disorders Study & Crow, Y 2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062
Nature
Deciphering Developmental Disorders Study & Crow, Y 2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062
Nature
Children with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,294 families with children with DDs, and meta-analysed these data with publish
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7e5d7fcf4831a7f999caac0003a6df
Akademický článek
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Autor:
Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Baralle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D'Alessandro, M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, S.L.G., Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O'Shea, R., Ogilvie, C., Park, S., Parker, M.J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Procter, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweier, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Shanrif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E., The Deciphering Developmental Disorders Study, .
Publikováno v:
Nature
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders1, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4849ed517dde51d5c721a6a7dd24d51c
Autor:
Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.
Publikováno v:
European Journal of Human Genetics: EJHG; November 2019, Vol. 27 Issue: 11 p1677-1682, 6p
Autor:
Couch, Fergus J., Xianshu, Wang, Lesley, Mcguffog, Andrew, Lee, Curtis, Olswold, Kuchenbaecker, Karoline B., Penny, Soucy, Zachary, Fredericksen, Daniel, Barrowdale, Joe, Dennis, Gaudet, Mia M., Dicks, Ed, Matthew, Kosel, Sue, Healey, Sinilnikova, Olga M., Adam, Lee, François, Bacot, Daniel, Vincent, Hogervorst, Frans B. L., Susan, Peock, Dominique Stoppa Lyonnet, Anna, Jakubowska, Paolo, Radice, Rita Katharina Schmutzler, Domchek, S. M., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Greene, M. H., Karlan, B. Y., Garber, J., Phelan, C. M., Weitzel, J. N., Montagna, M., Olah, E., Andrulis, I. L., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Nevanlinna, H., Osorio, A., Terry, M. B., Daly, M. B., Van Rensburg, E. J., Hamann, U., Ramus, S. J., Ewart Toland, A., Caligo, M. A., Olopade, O. I., Tung, N., Claes, K., Beattie, M. S., Southey, M. C., Imyanitov, E. N., Tischkowitz, M., Janavicius, R., John, E. M., Kwong, A., Diez, O., Balmana, J., Barkardottir, R. B., Arun, B. K., Rennert, G., Teo, S. H., Ganz, P. A., Campbell, I., Van Der Hout, A. H., Van Deurzen, C. H. M., Seynaeve, C., Gomez Garcia, E. B., Van Leeuwen, F. E., Meijers Heijboer, H. E. J., Gille, J. J. P., Ausems, M. G. E. M., Blok, M. J., Ligtenberg, M. J. L., Rookus, M. A., Devilee, P., Verhoef, S., Van Os, T. A. M., Wijnen, J. T., Frost, D., Ellis, S., Fineberg, E., Platte, R., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., Eccles, D. M., Cook, J., Brewer, C., Douglas, F., Hodgson, S., Morrison, P. J., Side, L. E., Donaldson, A., Houghton, C., Rogers, M. T., Dorkins, H., Eason, J., Gregory, H., Mccann, E., Murray, A., Calender, A., Hardouin, A., Berthet, P., Delnatte, C., Nogues, C., Lasset, C., Houdayer, C., Leroux, D., Rouleau, E., Prieur, F., Damiola, F., Sobol, H., Coupier, I., Venat Bouvet, L., Castera, L., Gauthier Villars, M., Leone, M., Pujol, P., Mazoyer, S., Bignon, Y. J., Zlowocka Perlowska, E., Gronwald, J., Lubinski, J., Durda, K., Jaworska, K., Huzarski, T., Spurdle, A. B., Viel, A., Peissel, B., Bonanni, B., Melloni, G., Ottini, Laura, Papi, L., Varesco, L., Tibiletti, M. G., Peterlongo, P., Volorio, S., Manoukian, S., Pensotti, V., Arnold, N., Engel, C., Deissler, H., Gadzicki, D., Gehrig, A., Kast, K., Rhiem, K., Meindl, A., Niederacher, D., Ditsch, N., Plendl, H., Preisler Adams, S., Engert, S., Sutter, C., Varon Mateeva, R., Wappenschmidt, B., Weber, B. H. F., Arver, B., Stenmark Askmalm, M., Loman, N., Rosenquist, R., Einbeigi, Z., Nathanson, K. L., Rebbeck, T. R., Blank, S. V., Cohn, D. E., Rodriguez, G. C., Small, L., Friedlander, M., Bae Jump, V. L., Fink Retter, A., Rappaport, C., Gschwantler Kaulich, D., Pfeiler, G., Tea, M. K., Lindor, N. M., Kaufman, B., Shimon Paluch, S., Laitman, Y., Skytte, A. B., Gerdes, A. M., Pedersen, I. S., Moeller, S. T., Kruse, T. A., Jensen, U. B., Vijai, J., Sarrel, K., Robson, M., Kauff, N., Mulligan, A. M., Glendon, G., Ozcelik, H., Ejlertsen, B., Nielsen, F. C., Jonson, L., Andersen, M. K., Ding, Y. C., Steele, L., Foretova, L., Teule, A., Lazaro, C., Brunet, J., Pujana, M. A., Mai, P. L., Loud, J. T., Walsh, C., Lester, J., Orsulic, S., Narod, S. A., Herzog, J., Sand, S. R., Tognazzo, S., Agata, S., Vaszko, T., Weaver, J., Stavropoulou, A. V., Buys, S. S., Romero, A., De La Hoya, M., Aittomaki, K., Muranen, T. A., Duran, M., Chung, W. K., Lasa, A., Dorfling, C. M., Miron, A., Benitez, J., Senter, L., Huo, D., Chan, S. B., Sokolenko, A. P., Chiquette, J., Tihomirova, L., Friebel, T. M., Agnarsson, B. A., K. H., Lu, Lejbkowicz, F., James, P. A., Hall, P., Dunning, A. M., Tessier, D., Cunningham, J., Slager, S. L., Wang, C., Hart, S., Stevens, K., Simard, J., Pastinen, T., Pankratz, V. S., Offit, K., Easton, D. F., Chenevix Trench, G., Antoniou, A. C., Thorne, H., Niedermayr, E., Borg, A., Olsson, H., Jernstrom, H., Henriksson, K., Harbst, K., Soller, M., Kristoffersson, U., Ofverholm, A., Nordling, M., Karlsson, P., Von Wachenfeldt, A., Liljegren, A., Lindblom, A., Bustinza, G. B., Rantala, J., Melin, B., Ardnor, C. E., Emanuelsson, M., Ehrencrona, H., Pigg, M. H., Liedgren, S., Hogervorst, F. B. L., Schmidt, M. K., De Lange, J., Collee, J. M., Van Den Ouweland, A. M. W., Hooning, M. J., Van Asperen, C. J., Tollenaar, R. A., Van Cronenburg, T. C. T. E. F., Kets, C. M., Mensenkamp, A. R., Van Der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Oosterwijk, J. C., Van Der Hout, H., Mourits, M. J., De Bock, G. H., Peock, S., Miedzybrodzka, Z., Morrison, P., Jeffers, L., Cole, T., Ong, K. R., Hoffman, J., James, M., Paterson, J., Taylor, A., Kennedy, M. J., Barton, D., Porteous, M., Drummond, S., Kivuva, E., Searle, A., Goodman, S., Hill, K., Davidson, R., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Jacobs, C., Langman, C., Brady, A., Melville, A., Randhawa, K., Barwell, J., Serra Feliu, G., Ellis, I., Lalloo, F., Taylor, J., Side, L., Male, A., Berlin, C., Collier, R., Claber, O., Jobson, I., Walker, L., Mcleod, D., Halliday, D., Durell, S., Stayner, B., Shanley, S., Rahman, N., Houlston, R., Stormorken, A., Bancroft, E., Page, E., Ardern Jones, A., Kohut, K., Wiggins, J., Castro, E., Killick, E., Martin, S., Rea, G., Kulkarni, A., Quarrell, O., Bardsley, C., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Lehmann, A., Eccles, D., Lucassen, A., Crawford, G., Mcbride, D., Smalley, S., Sinilnikova, O., Barjhoux, L., Verny Pierre, C., Giraud, S., Stoppa Lyonnet, D., Buecher, B., Moncoutier, V., Belotti, M., Tirapo, C., De Pauw, A., Bressac De Paillerets, B., Caron, O., Uhrhammer, N., Bonadona, V., Handallou, S., Bourdon, V., Noguchi, T., Remenieras, A., Eisinger, F., Peyrat, J. P., Fournier, J., Revillion, F., Vennin, P., Adenis, C., Lidereau, R., Demange, L., Muller, D., Fricker, J. P., Barouk Simonet, E., Bonnet, F., Bubien, V., Sevenet, N., Longy, M., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Dreyfus, H., Rebischung, C., Peysselon, M., Coron, F., Faivre, L., Lebrun, M., Kientz, C., Ferrer, S. F., Frenay, M., Mortemousque, I., Coulet, F., Colas, C., Soubrier, F., Sokolowska, J., Bronner, M., Lynch, H. T., Snyder, C. L., Angelakos, M., Maskiell, J., Dite, G.
Publikováno v:
Couch, F J, Wang, X S, McGuffog, L, Lee, A, Olswold, C, Kuchenbaecker, K B, Soucy, P, Fredericksen, Z, Barrowdale, D, Dennis, J, Gaudet, M M, Dicks, E, Kosel, M, Healey, S, Sinilnikova, O M, Bacot, F, Vincent, D, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Jakubowska, A, Radice, P, Schmutzler, R K, Domchek, S M, Piedmonte, M, Singer, C F, Friedman, E, Thomassen, M, Hansen, T V O, Neuhausen, S L, Szabo, C I, Blanco, I, Greene, M H, Karlan, B Y, Garber, J, Phelan, C M, Weitzel, J N, Montagna, M, Olah, E, Andrulis, I L, Godwin, A K, Yannoukakos, D, Goldgar, D E, Caldes, T, Nevanlinna, H, Osorio, A, Terry, M B, Daly, M B, van Rensburg, E J, Hamann, U, Ramus, S J, Toland, A E, Caligo, M A, Olopade, O I, Tung, N, Claes, K, Beattie, M S, Southey, M C, Imyanitov, E N, Tischkowitz, M, Janavicius, R, John, E M, Kwong, A, Diez, O, Balmana, J, Barkardottir, R B, Arun, B K, Rennert, G, Teo, S H, Ganz, P A, Campbell, I, van der Hout, A H, van Deurzen, C H M, Seynaeve, C, Garcia, E B G, van Leeuwen, F E, Meijers-Heijboer, H E J, Gille, J J P, Ausems, M G E M, Blok, M J, Ligtenberg, M J L, Rookus, M A, Devilee, P, Verhoef, S, van Os, T A M, Wijnen, J T, Frost, D, Ellis, S, Fineberg, E, Platte, R, Evans, D G, Izatt, L, Eeles, R A, Adlard, J, Eccles, D M, Cook, J, Brewer, C, Douglas, F & Hodgson, S 2013, ' Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk ', PLoS Genetics, vol. 9, no. 3, e1003212 . https://doi.org/10.1371/journal.pgen.1003212
Plos Genetics, 9
kConFab Investigators 2013, ' Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk ', P L o S Genetics, vol. 9, no. 3, e1003212., pp. 1-21 . https://doi.org/10.1371/journal.pgen.1003212
Plos Genetics, 9(3):1003212. Public Library of Science
Plos Genetics, 9, 3
PLoS Genetics
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS genetics, 9(3):e1003212. PUBLIC LIBRARY SCIENCE
PLoS Genetics; 9(3), no e1003212 (2013)
PLoS Genetics, 9(3)
PLoS Genetics, 2013, 9, pp.e1003212. ⟨10.1371/journal.pgen.1003212⟩
Digital.CSIC. Repositorio Institucional del CSIC
PLoS Genetics (print), 9(3). Public Library of Science
Couch, F J, Wang, X, McGuffog, L, Lee, A R, Olswold, C, Kuchenbaecker, K B, Soucy, P, Fredericksen, Z, Barrowdale, D, Dennis, J, Gaudet, M M, Dicks, E, Kosel, M, Healey, S, Sinilnikova, O M, Lee, A, Bacot, F, Vincent, D, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Jakubowska, A, Radice, P, Schmutzler, R K, Domchek, S M, Piedmonte, M, Singer, C F, Friedman, E, Thomassen, M, Hansen, T V O, Neuhausen, S L, Szabo, C I, Blanco, I, Greene, M H, Karlan, B Y, Garber, J, Phelan, C M, Weitzel, J N, Montagna, M, Olah, E, Andrulis, I L, Godwin, A K, Yannoukakos, D, Goldgar, D E, Caldes, T, Nevanlinna, H, Skytte, A-B, Gerdes, A-M, Moeller, S T, Kruse, T A & kConFab Investigators 2013, ' Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk ', P L o S Genetics, vol. 9, no. 3, pp. e1003212 . https://doi.org/10.1371/journal.pgen.1003212
PLOS GENETICS
PLoS Genetics, Vol 9, Iss 3, p e1003212 (2013)
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS Genetics, 9(3):e1003212. Public Library of Science
Recercat. Dipósit de la Recerca de Catalunya
Couch, F J, Wang, X, McGuffog, L, Lee, A R, Olswold, C, Kuchenbaecker, K B, Soucy, P, Fredericksen, Z, Barrowdale, D, Dennis, J, Gaudet, M M, Dicks, E, Kosel, M, Healey, S, Sinilnikova, O M, Lee, A, Bacot, F, Vincent, D, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Jakubowska, A, Investigators, K, Radice, P, Schmutzler, R K, Domchek, S M, Piedmonte, M, Singer, C F, Friedman, E, Thomassen, M, Hansen, T V O, Neuhausen, S L, Szabo, C I, Blanco, I, Greene, M H, Karlan, B Y, Garber, J, Phelan, C M, Weitzel, J N, Montagna, M, Olah, E, Andrulis, I L, Godwin, A K, Yannoukakos, D, Goldgar, D E, Caldes, T, Nevanlinna, H, Osorio, A, Pedersen, I S, Jensen, U B, SWE-BRCA & Skytte, A-B S 2013, ' Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk ', PLoS genetics, vol. 9, no. 3, pp. e1003212 . https://doi.org/10.1371/journal.pgen.1003212
PLoS Genetics, Public Library of Science, 2013, 9, pp.e1003212. ⟨10.1371/journal.pgen.1003212⟩
PLoS Genetics; Vol 9
PLoS genetics, 9(3). Public Library of Science
Plos Genetics, 9(3). Public Library of Science
Plos Genetics, 9
kConFab Investigators 2013, ' Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk ', P L o S Genetics, vol. 9, no. 3, e1003212., pp. 1-21 . https://doi.org/10.1371/journal.pgen.1003212
Plos Genetics, 9(3):1003212. Public Library of Science
Plos Genetics, 9, 3
PLoS Genetics
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS genetics, 9(3):e1003212. PUBLIC LIBRARY SCIENCE
PLoS Genetics; 9(3), no e1003212 (2013)
PLoS Genetics, 9(3)
PLoS Genetics, 2013, 9, pp.e1003212. ⟨10.1371/journal.pgen.1003212⟩
Digital.CSIC. Repositorio Institucional del CSIC
PLoS Genetics (print), 9(3). Public Library of Science
Couch, F J, Wang, X, McGuffog, L, Lee, A R, Olswold, C, Kuchenbaecker, K B, Soucy, P, Fredericksen, Z, Barrowdale, D, Dennis, J, Gaudet, M M, Dicks, E, Kosel, M, Healey, S, Sinilnikova, O M, Lee, A, Bacot, F, Vincent, D, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Jakubowska, A, Radice, P, Schmutzler, R K, Domchek, S M, Piedmonte, M, Singer, C F, Friedman, E, Thomassen, M, Hansen, T V O, Neuhausen, S L, Szabo, C I, Blanco, I, Greene, M H, Karlan, B Y, Garber, J, Phelan, C M, Weitzel, J N, Montagna, M, Olah, E, Andrulis, I L, Godwin, A K, Yannoukakos, D, Goldgar, D E, Caldes, T, Nevanlinna, H, Skytte, A-B, Gerdes, A-M, Moeller, S T, Kruse, T A & kConFab Investigators 2013, ' Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk ', P L o S Genetics, vol. 9, no. 3, pp. e1003212 . https://doi.org/10.1371/journal.pgen.1003212
PLOS GENETICS
PLoS Genetics, Vol 9, Iss 3, p e1003212 (2013)
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS Genetics, 9(3):e1003212. Public Library of Science
Recercat. Dipósit de la Recerca de Catalunya
Couch, F J, Wang, X, McGuffog, L, Lee, A R, Olswold, C, Kuchenbaecker, K B, Soucy, P, Fredericksen, Z, Barrowdale, D, Dennis, J, Gaudet, M M, Dicks, E, Kosel, M, Healey, S, Sinilnikova, O M, Lee, A, Bacot, F, Vincent, D, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Jakubowska, A, Investigators, K, Radice, P, Schmutzler, R K, Domchek, S M, Piedmonte, M, Singer, C F, Friedman, E, Thomassen, M, Hansen, T V O, Neuhausen, S L, Szabo, C I, Blanco, I, Greene, M H, Karlan, B Y, Garber, J, Phelan, C M, Weitzel, J N, Montagna, M, Olah, E, Andrulis, I L, Godwin, A K, Yannoukakos, D, Goldgar, D E, Caldes, T, Nevanlinna, H, Osorio, A, Pedersen, I S, Jensen, U B, SWE-BRCA & Skytte, A-B S 2013, ' Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk ', PLoS genetics, vol. 9, no. 3, pp. e1003212 . https://doi.org/10.1371/journal.pgen.1003212
PLoS Genetics, Public Library of Science, 2013, 9, pp.e1003212. ⟨10.1371/journal.pgen.1003212⟩
PLoS Genetics; Vol 9
PLoS genetics, 9(3). Public Library of Science
Plos Genetics, 9(3). Public Library of Science
This is an open-access article distributed under the terms of the Creative Commons Attribution License.-- CIMBA et al.
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-m
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::977d68472191e441a9af93425ef49847
https://research.vumc.nl/en/publications/bcc1545a-afb1-4d84-b0a1-4bfa08ea8a06
https://research.vumc.nl/en/publications/bcc1545a-afb1-4d84-b0a1-4bfa08ea8a06
Autor:
Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Thomassen, M., Gerdes, A.-M., Caligo, M. A., Friedman, E., Laitman, Y., Kaufman, B., Paluch, S. S., Borg, A., Karlsson, P., Stenmark Askmalm, M., Barbany Bustinza, G., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benitez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, H. J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Paterson, J., Eason, J., Godwin, A. K., Remon, M.-A., Moncoutier, V., Gauthier-Villars, M., Lasset, C., Giraud, S., Hardouin, A., Berthet, P., Sobol, H., Eisinger, F., Bressac de Paillerets, B., Caron, O., Delnatte, C., Goldgar, D., Miron, A., Ozcelik, H., Buys, S., Southey, M. C., Terry, M. B., Singer, C. F., Dressler, A.-C., Tea, M.-K., Hansen, T. V. O., Johannsson, O., Piedmonte, M., Rodriguez, G. C., Basil, J. B., Blank, S., Toland, A. E., Montagna, M., Isaacs, C., Blanco, I., Gayther, S. A., Moysich, K. B., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Sutter, C., Gadzicki, D., Fiebig, B., Caldes, T., Laframboise, R., Nevanlinna, H., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Peterlongo, P., Manoukian, S., Bernard, L., Radice, P., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Stoppa-Lyonnet, D., Mazoyer, S., Sinilnikova, O. M., Dumont, M., Greene, M., Glendon, G., Selander, T., Weerasooriya, N., Nordling, M., Bergman, A., Einbeigi, Z., Stenmark-Askmalm, M., Liedgren, S., Loman, N., Olsson, H., Kristoffersson, U., Soller, M., Jernstrom, H., Harbst, K., Henriksson, K., Lindblom, A., Arver, B., von Wachenfeldt, A., Liljegren, A., Barbany-Bustinza, G., Rantala, J., Melin, B., Gronberg, H., Stattin, E.-L., Emanuelsson, M., Ehrencrona, H., Torres, D., Rashid, M. U., Seidel-Renkert, A., Hogervorst, F. B. L., Verhoef, S., Verheus, M., van't Veer, L. J., van Leeuwen, F. E., Collee, M., Jager, A., Hooning, M. J., Tilanus-Linthorst, M. M. A., Seynaeve, C., Wijnen, J. T., Vreeswijk, M. P., Tollenaar, R. A., Ligtenberg, M. J., Hoogerbrugge, N., Ausems, M. G., van der Luijt, R. B., van Os, T. A., Gille, J. J. P., Waisfisz, Q., Meijers-Heijboer, H. E. J., Gomez-Garcia, E. B., van Roozendaal, C. E., Blok, M. J., Caanen, B., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., Vasen, H. F., Cook, M., Platte, R., Miedzybrodzka, Z., Gregory, H., Morrison, P., Jeffers, L., Cole, T., Ong, K.-r., Hoffman, J., Donaldson, A., James, M., Downing, S., Taylor, A., Murray, A., Rogers, M. T., McCann, E., Kennedy, M. J., Barton, D., Porteous, M., Drummond, S., Brewer, C., Kivuva, E., Searle, A., Goodman, S., Hill, K., Davidson, R., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Jacobs, C., Langman, C., Whaite, A., Dorkins, H., Barwell, J., Chu, C., Miller, J., Ellis, I., Houghton, C., Lalloo, F., Taylor, J., Side, L., Male, A., Berlin, C., Collier, R., Douglas, F., Claber, O., Jobson, I., Walker, L., McLeod, D., Halliday, D., Durell, S., Stayner, B., Shanley, S., Rahman, N., Houlston, R., Bancroft, E., D'Mello, L., Page, E., Ardern-Jones, A., Kohut, K., Wiggins, J., Castro, E., Mitra, A., Robertson, L., Cook, J., Quarrell, O., Bardsley, C., Hodgson, S., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Eccles, D., Lucassen, A., Crawford, G., McBride, D., Smalley, S., Sinilnikova, O., Leone, M., Buecher, B., Houdayer, C., Belotti, M., Tirapo, C., de Pauw, A., Bressac-de-Paillerets, B., Remenieras, A., Byrde, V., Lenoir, G., Bignon, Y.-J., Uhrhammer, N., Bonadona, V., Bourdon, V., Noguchi, T., Coulet, F., Colas, C., Soubrier, F., Coupier, I., Pujol, P., Peyrat, J.-P., Fournier, J., Revillion, F., Vennin, P., Adenis, C., Rouleau, E., Lidereau, R., Demange, L., Nogues, C., Muller, D., Fricker, J.-P., Longy, M., Sevenet, N., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Leroux, D., Dreyfus, H., Rebischung, C., Coron, F., Faivre, L., Prieur, F., Lebrun, M., Ferrer, S. F., Frenay, M., Venat-Bouvet, L., Mortemousque, I., Lynch, H. T., Snyder, C. L., Ejlertsen, B., Andersen, M. K., Kjaergaard, S., Senter, L., Sweet, K., O'Connor, M., Craven, C., Pharoah, P., Ramus, S., Pye, C., Harrington, P., Wozniak, E., Varon-Mateeva, R., Kast, K., Preisler-Adams, S., Deissler, H., Schonbuchner, I., Heinritz, W., Schafer, D., Aittomaki, K., Blomqvist, C., Heikkinen, T., Erkkila, R. N. I., Thorne, H., Niedermayr, E., de la Hoya, M., Perez-Segura, P.
Publikováno v:
Human Molecular Genetics, 20(23), 4732-4747
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4732-47. ⟨10.1093/hmg/ddr388⟩
Human Molecular Genetics, 20(23), 4732-4747. Oxford University Press
Human Molecular Genetics, 20, 23, pp. 4732-47
Human Molecular Genetics, 20, 4732-47
Human molecular genetics, 20(23), 4732-4747. Oxford University Press
Cox, D G, Simard, J, Sinnett, D, Hamdi, Y, Soucy, P, Ouimet, M, Barjhoux, L, Verny-Pierre, C, McGuffog, L, Healey, S, Szabo, C, Greene, M H, Mai, P L, Andrulis, I L, Thomassen, M, Gerdes, A M, Caligo, M A, Friedman, E, Laitman, Y, Kaufman, B, Paluch, S S, Borg, A, Karlsson, P, Askmalm, M S, Bustinza, G B, Nathanson, K L, Domchek, S M, Rebbeck, T R, Benitez, J, Hamann, U, Rookus, M A, van den Ouweland, A M W, Ausems, M G E M, Aalfs, C M, van Asperen, C J, Devilee, P, Gille, J J P, Peock, S, Frost, D, Evans, D G, Eeles, R, Izatt, L, Adlard, J, Paterson, J, Eason, J, Godwin, A K, Remon, M A, Moncoutier, V, Gauthier-Villars, M, Lasset, C, Giraud, S, Hardouin, A, Berthet, P, Sobol, H, Eisinger, F, de Paillerets, B B, Caron, O, Delnatte, C, Goldgar, D, Miron, A, Ozcelik, H, Buys, S, Southey, M C, Terry, M B, Singer, C F, Dressler, A C, Tea, M K, Hansen, T V O, Johannsson, O, Piedmonte, M, Rodriguez, G C, Basil, J B, Blank, S, Toland, A E, Montagna, M, Isaacs, C, Blanco, I, Gayther, S A, Moysich, K B, Schmutzler, R K, Wappenschmidt, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Sutter, C, Gadzicki, D, Fiebig, B, Caldes, T, Laframboise, R, Nevanlinna, H, Chen, X Q, Beesley, J, Spurdle, A B, Neuhausen, S L, Ding, Y C, Couch, F J & Wang, X S 2011, ' Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers ', Human Molecular Genetics, vol. 20, no. 23, pp. 4732-4747 . https://doi.org/10.1093/hmg/ddr388
Human Molecular Genetics; Vol 20
Human Molecular Genetics, 2011, 20 (23), pp.4732-47. ⟨10.1093/hmg/ddr388⟩
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4732-47. 〈10.1093/hmg/ddr388〉
Cox, D G, Simard, J, Sinnett, D, Hamdi, Y, Soucy, P, Ouimet, M, Barjhoux, L, Verny-Pierre, C, McGuffog, L, Healey, S, Szabo, C, Greene, M H, Mai, P L, Andrulis, I L, Thomassen, M, Gerdes, A-M, Caligo, M A, Friedman, E, Laitman, Y, Kaufman, B, Paluch, S S, Borg, A, Karlsson, P, Stenmark Askmalm, M, Barbany Bustinza, G, Nathanson, K L, Domchek, S M, Rebbeck, T R, Benítez, J, Hamann, U, Rookus, M A, van den Ouweland, A M W, Ausems, M G E M, Aalfs, C M, van Asperen, C J, Devilee, P, Gille, H J J P, Peock, S, Frost, D, Evans, D G, Eeles, R, Izatt, L, Adlard, J, Paterson, J, Eason, J, Godwin, A K, Remon, M-A, Moncoutier, V, Gauthier-Villars, M, Lasset, C & Ontario Cancer Genetics Network 2011, ' Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers ', Human Molecular Genetics, vol. 20, no. 23, pp. 4732-4747 . https://doi.org/10.1093/hmg/ddr388
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4732-47. ⟨10.1093/hmg/ddr388⟩
Human Molecular Genetics, 20(23), 4732-4747. Oxford University Press
Human Molecular Genetics, 20, 23, pp. 4732-47
Human Molecular Genetics, 20, 4732-47
Human molecular genetics, 20(23), 4732-4747. Oxford University Press
Cox, D G, Simard, J, Sinnett, D, Hamdi, Y, Soucy, P, Ouimet, M, Barjhoux, L, Verny-Pierre, C, McGuffog, L, Healey, S, Szabo, C, Greene, M H, Mai, P L, Andrulis, I L, Thomassen, M, Gerdes, A M, Caligo, M A, Friedman, E, Laitman, Y, Kaufman, B, Paluch, S S, Borg, A, Karlsson, P, Askmalm, M S, Bustinza, G B, Nathanson, K L, Domchek, S M, Rebbeck, T R, Benitez, J, Hamann, U, Rookus, M A, van den Ouweland, A M W, Ausems, M G E M, Aalfs, C M, van Asperen, C J, Devilee, P, Gille, J J P, Peock, S, Frost, D, Evans, D G, Eeles, R, Izatt, L, Adlard, J, Paterson, J, Eason, J, Godwin, A K, Remon, M A, Moncoutier, V, Gauthier-Villars, M, Lasset, C, Giraud, S, Hardouin, A, Berthet, P, Sobol, H, Eisinger, F, de Paillerets, B B, Caron, O, Delnatte, C, Goldgar, D, Miron, A, Ozcelik, H, Buys, S, Southey, M C, Terry, M B, Singer, C F, Dressler, A C, Tea, M K, Hansen, T V O, Johannsson, O, Piedmonte, M, Rodriguez, G C, Basil, J B, Blank, S, Toland, A E, Montagna, M, Isaacs, C, Blanco, I, Gayther, S A, Moysich, K B, Schmutzler, R K, Wappenschmidt, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Sutter, C, Gadzicki, D, Fiebig, B, Caldes, T, Laframboise, R, Nevanlinna, H, Chen, X Q, Beesley, J, Spurdle, A B, Neuhausen, S L, Ding, Y C, Couch, F J & Wang, X S 2011, ' Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers ', Human Molecular Genetics, vol. 20, no. 23, pp. 4732-4747 . https://doi.org/10.1093/hmg/ddr388
Human Molecular Genetics; Vol 20
Human Molecular Genetics, 2011, 20 (23), pp.4732-47. ⟨10.1093/hmg/ddr388⟩
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4732-47. 〈10.1093/hmg/ddr388〉
Cox, D G, Simard, J, Sinnett, D, Hamdi, Y, Soucy, P, Ouimet, M, Barjhoux, L, Verny-Pierre, C, McGuffog, L, Healey, S, Szabo, C, Greene, M H, Mai, P L, Andrulis, I L, Thomassen, M, Gerdes, A-M, Caligo, M A, Friedman, E, Laitman, Y, Kaufman, B, Paluch, S S, Borg, A, Karlsson, P, Stenmark Askmalm, M, Barbany Bustinza, G, Nathanson, K L, Domchek, S M, Rebbeck, T R, Benítez, J, Hamann, U, Rookus, M A, van den Ouweland, A M W, Ausems, M G E M, Aalfs, C M, van Asperen, C J, Devilee, P, Gille, H J J P, Peock, S, Frost, D, Evans, D G, Eeles, R, Izatt, L, Adlard, J, Paterson, J, Eason, J, Godwin, A K, Remon, M-A, Moncoutier, V, Gauthier-Villars, M, Lasset, C & Ontario Cancer Genetics Network 2011, ' Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers ', Human Molecular Genetics, vol. 20, no. 23, pp. 4732-4747 . https://doi.org/10.1093/hmg/ddr388
Item does not contain fulltext Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::207eefc35a6fe3701311eaf6bee86cb8
http://hdl.handle.net/1887/88113
http://hdl.handle.net/1887/88113