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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

Autor: Kim, A., Savary, C., Dubourg, C., Carre, W., Mouden, C., Hamdi-Roze, H., Guyodo, H., Douce, J. le, Pasquier, L., Flori, E., Gonzales, M., Beneteau, C., Boute, O., Attie-Bitach, T., Roume, J., Goujon, L., Akloul, L., Odent, S., Watrin, E., Dupe, V., Tayrac, M. de, David, V., Genin, E., Campion, D., Dartigues, J.F.C.O., Deleuze, J.F., Lambert, J.C., Redon, R., Ludwig, T., Grenier-Boley, B., Letort, S., Lindenbaum, P., Meyer, V., Quenez, O., Dina, C., Bellenguez, C., Charbonnier-Le Clezio, C., Giemza, J., Chatel, S., Ferec, C., Marec, H. le, Letenneur, L., Nicolas, G., Rouault, K., Bacq, D., Boland, A., Lechner, D., Wijmenga, C., Swertz, M.A., Slagboom, P.E., Ommen, G.J.B. van, Duijn, C.M. van, Boomsma, D.I., Bakker, P.I.W. de, Bovenberg, J.A., Craen, A.J.M. de, Beekman, M., Hofman, A., Willemsen, G., Wolffenbuttel, B., Platteel, M., Y.P. du, Chen, R.Y., Cao, H.Z., Cao, R., Sun, Y.S., Cao, J.S., Dijk, F. van, Neerincx, P.B.T., Deelen, P., Dijkstra, M., Byelas, G., Kanterakis, A., Bot, J., Ye, K., Lameijer, E.W., Vermaat, M., Laros, J.F.J., Dunnen, J.T. den, Knijff, P. de, Karssen, L.C., Leeuwen, E.M. van, Amin, N., Koval, V., Rivadeneira, F., Estrada, K., Hehirkwa, J.Y., Ligt, J. de, Abdellaoui, A., Hottenga, J.J., Kattenberg, V.M., Enckevort, D. van, Mei, H., Santcroos, M., Schaik, B.D.C. van, Handsaker, R.E., McCarroll, S.A., Eichler, E.E., Ko, A., Sudmant, P., Francioli, L.C., Kloosterman, W.P., Nijman, I.J., Guryev, V., FREX Consortium, GoNL Consortium

Publikováno v: Brain, 142(1), 35-49. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142, 35-49. OXFORD UNIV PRESS
Kim, A, Savary, C, de Tayrac, M, David, V, FREX Consortium, Boomsma, D, Willemsen, G, Abdellaoui, A, Hottenga, J J & Kattenberg, M 2019, ' Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly ', Brain : a journal of neurology, vol. 142, no. 1, pp. 35-49 . https://doi.org/10.1093/brain/awy290
Brain : a journal of neurology, 142(1), 35-49. Oxford University Press
Brain-A Journal of Neurology, 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142(1), 35. Oxford University Press

Kim et al. identify novel genes and disease pathways in the forebrain developmental disorder holoprosencephaly, and show that many cases involve oligogenic inheritance. The findings underline the roles of Sonic Hedgehog and primary cilia in forebrain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c33790c2c548866b2bd58ac9919bb5
https://research.rug.nl/en/publications/9c483394-6d35-4799-b37f-f2b3674e2109

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Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Autor: Couch, F.J., Gaudet, M.M., Antoniou, A.C., Ramus, S.J., Kuchenbaecker, K.B., Soucy, P., Beesley, J., Chen, X.Q., Wang, X.S., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Sinilnikova, O.M., Andrulis, I.L., Ozcelik, H., Mulligan, A.M., Thomassen, M., Gerdes, A.M., Jensen, U.B., Skytte, A.B., Kruse, T.A., Caligo, M.A., Wachenfeldt, A. von, Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P., Nathanson, K.L., Rebbeck, T.R., Domchek, S.M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Gorski, B., Osorio, A., Duran, M., Tejada, M.I., Benitez, J., Hamann, U., Hogervorst, F.B.L., Os, T.A. van, Leeuwen, F.E. van, Meijers-Heijboer, H.E.J., Wijnen, J., Blok, M.J., Kets, M., Hooning, M.J., Oldenburg, R.A., Ausems, M.G.E.M., Peock, S., Frost, D., Ellis, S.D., Platte, R., Fineberg, E., Evans, D.G., Jacobs, C., Eeles, R.A., Adlard, J., Davidson, R., Eccles, D.M., Cole, T., Cook, J., Paterson, J., Brewer, C., Douglas, F., Hodgson, S.V., Morrison, P.J., Walker, L., Porteous, M.E., Kennedy, M.J., Side, L.E., Bove, B., Godwin, A.K., Stoppa-Lyonnet, D., Fassy-Colcombet, M., Castera, L., Cornelis, F., Mazoyer, S., Leone, M., Boutry-Kryza, N., Bressac-de Paillerets, B., Caron, O., Pujol, P., Coupier, I., Delnatte, C., Akloul, L., Lynch, H.T., Snyder, C.L., Buys, S.S., Daly, M.B., Terry, M., Chung, W.K., John, E.M., Miron, A., Southey, M.C., Hopper, J.L., Goldgar, D.E., Singer, C.F., Rappaport, C., Tea, M.K.M., Fink-Retter, A., Hansen, T.V.O., Nielsen, F.C., Arason, A., Vijai, J., Shah, S., Sarrel, K., Robson, M.E., Piedmonte, M., Phillips, K., Basil, J., Rubinstein, W.S., Boggess, J., Wakeley, K., Ewart-Toland, A., Montagna, M., Agata, S., Imyanitov, E.N., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Feliubadalo, L., Brunet, J., Gayther, S.A., Pharoah, P.P.D., Odunsi, K.O., Karlan, B.Y., Walsh, C.S., Olah, E., Teo, S.H., Ganz, P.A., Beattie, M.S., Rensburg, E.J. van, Dorfling, C.M., Diez, O., Kwong, A., Schmutzler, R.K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Heidemann, S., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Fiebig, B., Heinritz, W., Caldes, T., Hoya, M. de la, Muranen, T.A., Nevanlinna, H., Tischkowitz, M., Spurdle, A.B., Neuhausen, S.L., Ding, Y.C., Lindor, N.M., Fredericksen, Z., Pankratz, V.S., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Barile, M., Bernard, L., Viel, A., Giannini, G., Varesco, L., Radice, P., Greene, M.H., Mai, P.L., Easton, D.F., Chenevix-Trench, G., Offit, K., Simard, J., OCGN, SWE-BRCA, HEBON, EMBRACE, GEMO Study Collaborators, kConFab Investigators, Consortium Investigators Modifiers

Publikováno v: Couch, F J, Gaudet, M M, Antoniou, A C, Ramus, S J, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X Q, Wang, X S, Kirchhoff, T, McGuffog, L, Barrowdale, D, Lee, A, Healey, S, Sinilnikova, O M, Andrulis, I L, Ozcelik, H, Mulligan, A M, Thomassen, M, Gerdes, A M, Jensen, U B, Skytte, A B, Kruse, T A, Caligo, M A, von Wachenfeldt, A, Barbany-Bustinza, G, Loman, N, Soller, M, Ehrencrona, H, Karlsson, P, Nathanson, K L, Rebbeck, T R, Domchek, S M, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Zlowocka, E, Huzarski, T, Byrski, T, Gronwald, J, Cybulski, C, Gorski, B, Osorio, A, Duran, M, Tejada, M I, Benitez, J, Hamann, U, Hogervorst, F B L, Os, T A, van Leeuwen, F E, Meijers-Heijboer, E J, van Wijnen, J, Blok, M J, Kets, M, Hooning, M J, Oldenburg, R A, Ausems, M G E M, Peock, S, Frost, D, Ellis, S D, Platte, R, Fineberg, E, Evans, D G, Jacobs, C, Eeles, R A, Adlard, J, Davidson, R, Eccles, D M, Cole, T, Cook, J, Paterson, J, Brewer, C, Douglas, F, Hodgson, SV, Morrison, P J, Walker, L, Porteous, M E, Kennedy, M J, Side, L E, Bove, B, Godwin, A K, Stoppa-Lyonnet, D, Fassy-Colcombet, M, Castera, L, Cornelis, F, Mazoyer, S, Leone, M, Boutry-Kryza, N, Bressac-de Paillerets, B, Caron, O, Pujol, P, Coupier, I, Delnatte, C, Akloul, L, Lynch, H T, Snyder, C L, Buys, S S & Daly, M B 2012, ' Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers ', Cancer Epidemiology Biomarkers and Prevention, vol. 21, no. 4, pp. 645-657 . https://doi.org/10.1158/1055-9965.EPI-11-0888
Couch, F J, Gaudet, M M, Antoniou, A C, Ramus, S J, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, Wang, X, Kirchhoff, T, McGuffog, L, Barrowdale, D, Lee, A, Healey, S, Sinilnikova, O M, Andrulis, I L, Ozcelik, H, Mulligan, A M, Thomassen, M, Gerdes, A-M, Jensen, U B, Skytte, A-B, Kruse, T A, Caligo, M A, von Wachenfeldt, A, Barbany-Bustinza, G, Loman, N, Soller, M, Ehrencrona, H, Karlsson, P, Nathanson, K L, Rebbeck, T R, Domchek, S M, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Zlowocka, E, Huzarski, T, Byrski, T, Gronwald, J, Cybulski, C, Górski, B, Osorio, A, Durán, M, Tejada, M I, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A & OCGN 2012, ' Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers ', Cancer Epidemiology, Biomarkers & Prevention, vol. 21, no. 4, pp. 645-57 . https://doi.org/10.1158/1055-9965.EPI-11-0888
Cancer Epidemiology Biomarkers and Prevention, 21(4), 645-657. American Association for Cancer Research Inc.
Cancer Epidemiology Biomarkers & Prevention; Vol 21
Cancer Epidemiology, Biomarkers and Prevention, 21(4), 645-657
Cancer Epidemiology, Biomarkers & Prevention, 21, 4, pp. 645-57
Digital.CSIC. Repositorio Institucional del CSIC
instname
Couch, F J, Gaudet, M M, Antoniou, A C, Ramus, S J, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, Wang, X, Kirchhoff, T, McGuffog, L, Barrowdale, D, Lee, A R, Healey, S, Sinilnikova, O M, Andrulis, I L, Ozcelik, H, Mulligan, A M, Thomassen, M, Gerdes, A-M A, Jensen, U B, Skytte, A-B S, Kruse, T A, Caligo, M A, von Wachenfeldt, A, Barbany-Bustinza, G, Loman, N, Soller, M, Ehrencrona, H, Karlsson, P W, Nathanson, K L, Rebbeck, T R, Domchek, S M, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Zlowocka, E, Huzarski, T, Byrski, T, Gronwald, J, Cybulski, C, Górski, B, Osorio, A, Durán, M, Tejada, M I, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A & OCGN 2012, ' Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers ', Cancer Epidemiology, Biomarkers & Prevention, vol. 21, no. 4, pp. 645-57 . https://doi.org/10.1158/1055-9965.EPI-11-0888
Cancer Epidemiology Biomarkers & Prevention, 21(4), 645-657. American Association for Cancer Research Inc.
Cancer Epidemiology, Biomarkers & Prevention, 21, 645-57
Cancer epidemiology, biomarkers & prevention, 21(4), 645-657. American Association for Cancer Research Inc.

PMCID: PMC3319317.-- et al.
[Background]: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored association

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b949799806fed1689a9d24c254b3c62
https://research.vumc.nl/en/publications/f7b6f7f2-aac8-4050-a221-f53efa006269

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