Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Lichtner P"'
Publikováno v:
Annals of Clinical and Translational Neurology
Ann. Clin. Transl. Neurol. 7, 390-396 (2020)
Ann. Clin. Transl. Neurol. 7, 390-396 (2020)
The RBL2 locus has been associated with intelligence and educational attainment but not with a monogenic disorder to date. RBL2 encodes p130, a member of the retinoblastoma protein family, which is involved in mediating neuron survival and death. Pre
Autor:
Tian, Y., Liu, X., Jia, M., Yu, H., Lichtner, P., Shi, Y., Meng, Z., Kou, S., Ho, I.H.T., Jia, B., Cheng, B.C.P., Lam, C.K.M., Tsang, S.H., Wong, S.H., Yu, J., Cheng, C.H.K., Gin, T., Wu, W.K.K., Chen, Z., Chan, M.T.V., Mou, A., Tsang, M.W., Tsang, M.W.M., Kwan, R., Wong, E., Yau, K., Lok, A., Lee, E., Fung, B., Lam, L., Chan, C.S.
Publikováno v:
Anesthesiology 128, 587-597 (2018)
Background The purpose of this study was to evaluate the association between single-nucleotide polymorphisms and chronic postsurgical pain. Methods Using GoldenGate genotyping assays, we genotyped 638 polymorphisms within 54 pain-related genes in 1,1
Autor:
Wang, L, Aasly, J, Annesi, G, Bardien, S, Bozi, M, Brice, A, Carr, J, Chung, S, Clarke, C, Crosiers, D, Deutschländer, A, Eckstein, G, Farrer, M, Goldwurm, S, Garraux, G, Hadjigeorgiou, G, Hicks, A, Hattori, N, Klein, C, Jeon, B, Kim, Y, Lesage, S, Lin, J, Lynch, T, Lichtner, P, Lang, A, Mok, V, Jasinska-Myga, B, Mellick, G, Morrison, K, Opala, G, Pihlstrøm, L, Pramstaller, P, Park, S, Quattrone, A, Rogaeva, E, Ross, O, Stefanis, L, Stockton, J, Silburn, P, Theuns, J, Tan, E, Tomiyama, H, Toft, M, Van Broeckhoven, C, Uitti, R, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yueh, K, Zhao, Y, Gasser, T, Maraganore, D, Krüger, R, Sharma, M, Boyle, RS, Sellbach, A, O'Sullivan, JD, Sutherland, GT, Siebert, GA, Dissanayaka, NN, Pickut, B, Engelborghs, S, Meeus, B, De Deyn, PP, Cras, P, Lang, AE, Tzourio, C, Amouyel, P, Loriot, MA, Mutez, E, Duflot, A, Legendre, JP, Waucquier, N, Riess, O, Berg, D, Schulte, C, Djarmati, A, Hagenah, J, Lohman, K, Auburger, G, Hilker, R, van de Loo, S, Dardiotis, E, Tsimourtou, V, Ralli, S, Kountra, P, Patramani, G, Vogiatzi, C, Funayama, M, Yoshino, H, Li, Y, Imamichi, Y, Toda, T, Satake, W, Valente, EM, Ferraris, A, Dallapiccola, B, Ialongo, T, Brighina, L, Corradi, B, Ferrarese, C, Piolti, MR, Tarantino, P, Annesi, F, Gagliardi, M, Jeon, BS, Klodowska-Duda, G, Boczarska-Jedynak, M, Tan, EK, Belin, AC, Olson, L, Galter, D, Westerlund, M, Sydow, O, Nilsson, C, Puschmann, A, Lin, JJ, Maraganore, DM, Ahlskog, J, de Andrade, M, Lesnick, TG, Rocca, WA, Checkowa, H, Ross, OA, Wszolek, ZK, Uitti, RJ
Publikováno v:
Neurology
Neurology (2015). doi:10.1212/WNL.0000000000002016
info:cnr-pdr/source/autori:Wang L1, Aasly JO1, Annesi G1, Bardien S1, Bozi M1, Brice A1, Carr J1, Chung SJ1, Clarke C1, Crosiers D1, Deutschländer A1, Eckstein G1, Farrer MJ1, Goldwurm S1, Garraux G1, Hadjigeorgiou GM1, Hicks AA1, Hattori N1, Klein C1, Jeon B1, Kim YJ1, Lesage S1, Lin JJ1, Lynch T1, Lichtner P1, Lang AE1, Mok V1, Jasinska-Myga B1, Mellick GD1, Morrison KE1, Opala G1, Pihlstrøm L1, Pramstaller PP1, Park SS1, Quattrone A1, Rogaeva E1, Ross OA1, Stefanis L1, Stockton JD1, Silburn PA1, Theuns J1, Tan EK1, Tomiyama H1, Toft M1, Van Broeckhoven C1, Uitti RJ1, Wirdefeldt K1, Wszolek Z1, Xiromerisiou G1, Yueh KC1, Zhao Y1, Gasser T1, Maraganore DM1, Krüger R1, Sharma M2; GEO-PD Consortium/titolo:Large-scale assessment of polyglutamine repeat expansions in Parkinson disease/doi:10.1212%2FWNL.0000000000002016/rivista:Neurology/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
ResearcherID
Neurology (2015). doi:10.1212/WNL.0000000000002016
info:cnr-pdr/source/autori:Wang L1, Aasly JO1, Annesi G1, Bardien S1, Bozi M1, Brice A1, Carr J1, Chung SJ1, Clarke C1, Crosiers D1, Deutschländer A1, Eckstein G1, Farrer MJ1, Goldwurm S1, Garraux G1, Hadjigeorgiou GM1, Hicks AA1, Hattori N1, Klein C1, Jeon B1, Kim YJ1, Lesage S1, Lin JJ1, Lynch T1, Lichtner P1, Lang AE1, Mok V1, Jasinska-Myga B1, Mellick GD1, Morrison KE1, Opala G1, Pihlstrøm L1, Pramstaller PP1, Park SS1, Quattrone A1, Rogaeva E1, Ross OA1, Stefanis L1, Stockton JD1, Silburn PA1, Theuns J1, Tan EK1, Tomiyama H1, Toft M1, Van Broeckhoven C1, Uitti RJ1, Wirdefeldt K1, Wszolek Z1, Xiromerisiou G1, Yueh KC1, Zhao Y1, Gasser T1, Maraganore DM1, Krüger R1, Sharma M2; GEO-PD Consortium/titolo:Large-scale assessment of polyglutamine repeat expansions in Parkinson disease/doi:10.1212%2FWNL.0000000000002016/rivista:Neurology/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
ResearcherID
Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic Epidemiology of Parkinson9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0fe39026c7bfeb5ea42ba83a45644
https://doi.org/10.1212/wnl.0000000000002016
https://doi.org/10.1212/wnl.0000000000002016
Autor:
Lin, W.Y., Camp, N.J., Ghoussaini, M., Beesley, J., Michailidou, K., Hopper, J.L., Apicella, C., Southey, M.C., Stone, J., Schmidt, M.K., Broeks, A., Van't Veer, L.J., Rutgers, E.J.T., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M.K., Wang, Q., Dennis, J., Sawyer, E.J., Cheng, T., Tomlinson, I., Kerin, M.J., Miller, N., Marme, F., Surowy, H.M., Burwinkel, B., Guenel, P., Truong, T., Menegaux, F., Mulot, C., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Benitez, J., Zamora, M.P., Perez, J.I.A., Menendez, P., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Alvarez, N., Herrera, D., Anton-Culver, H., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R.K., Muller-Myhsok, B., Brauch, H., Bruning, T., Ko, Y.D., Tessier, D.C., Vincent, D., Bacot, F., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Khan, S., Matsuo, K., Ito, H., Iwata, H., Horio, A., Bogdanova, N.V., Antonenkova, N.N., Dork, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Neven, P., Wauters, E., Wildiers, H., Lambrechts, D., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Manoukian, S., Bonanni, B., Couch, F.J., Wang, X.S., Vachon, C., Purrington, K., Giles, G.G., Milne, R.L., Mclean, C., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Teo, S.H., Yip, C.H., Hassan, N., Vithana, E.N., Kristensen, V., Zheng, W., Deming-Halverson, S., Shrubsole, M.J., Long, J.R., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I.L., Knight, J.A., Glendon, G., Tchatchou, S., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Garcia-Closas, M., Figueroa, J., Lissowska, J., Brinton, L., Czene, K., Darabi, H., Eriksson, M., Brand, J.S., Hooning, M.J., Hollestelle, A., Ouweland, A.M.W. van den, Jager, A., Li, J.M., Liu, J.J., Humphreys, K., Shu, X.O., Lu, W., Gao, Y.T., Cai, H., Cross, S.S., Reed, M.W.R., Blot, W., Signorello, L.B., Cai, Q.Y., Pharoah, P.D.P., Perkins, B., Shah, M., Blows, F.M., Kang, D., Yoo, K.Y., Noh, D.Y., Hartman, M., Miao, H., Chia, K.S., Putti, T.C., Hamann, U., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C.S., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Slager, S., Toland, A.E., Yannoukakos, D., Shen, C.Y., Hsiung, C.N., Wu, P.E., Ding, S.L., Ashworth, A., Jones, M., Orr, N., Swerdlow, A.J., Tsimiklis, H., Makalic, E., Schmidt, D.F., Bui, Q.M., Chanock, S.J., Hunter, D.J., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Muranen, T.A., Heikkinen, T., Irwanto, A., Rahman, N., Turnbull, C.A., Waisfisz, Q., Meijers-Heijboer, H.E.J., Adank, M.A., Luijt, R.B. van der, Hall, P., Chenevix-Trench, G., Dunning, A., Easton, D.F., Cox, A., GENICA Network, kConFab Investigators, Australian Ovarian Canc Study Grp, Breast Ovarian Canc Susceptibility
Publikováno v:
Lin, Wei-Yu; Camp, Nicola J; Ghoussaini, Maya; Beesley, Jonathan; Michailidou, Kyriaki; Hopper, John L; et al.(2015). Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.. Human molecular genetics, 24(1), 285-298. doi: 10.1093/hmg/ddu431. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/7wq2m8vb
Human Molecular Genetics, 24(1), 285-298. Oxford University Press
Lin, W Y, Camp, N J, Ghoussaini, M, Beesley, J, Michailidou, K, Hopper, J L, Apicella, C, Southey, M C, Stone, J, Schmidt, M K, Broeks, A, van 't Veer, L J, Rutgers, E J T, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Fasching, P A, Haeberle, L, Ekici, A B, Beckmann, M W, Peto, J, dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, M K, Wang, Q, Dennis, J, Sawyer, E J, Cheng, T, Tomlinson, I, Kerin, M J, Miller, N, Marme, F, Surowy, H M, Burwinkel, B, Guenel, P, Truong, T, Menegaux, F, Mulot, C, Bojesen, S E, Nordestgaard, B G, Nielsen, S F, Flyger, H, Benitez, J, Zamora, M P, Perez, J I A, Menendez, P, Gonzalez-Neira, A, Pita, G, Alonso, M R, Alvarez, N, Herrera, D, Anton-Culver, H, Brenner, H, Dieffenbach, A K, Arndt, V, Stegmaier, C, Meindl, A, Lichtner, P, Schmutzler, R K, Muller-Myhsok, B, Brauch, H, Bruning, T, Ko, Y D, Tessier, D C, Vincent, D, Bacot, F, Nevanlinna, H, Aittomaki, K, Blomqvist, C, Khan, S I, Matsuo, K, Ito, H, Iwata, H, Horio, A, Bogdanova, N V, Antonenkova, N N, Dork, T, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V M, Hartikainen, J M, Wu, A H, Tseng, C C, Berg, D, Stram, D O, Neven, P, Wauters, E, Wildiers, H, Lambrechts, D, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Radice, P, Peterlongo, P, Waisfisz, Q, Meijers-Heijboer, E J, Adank, M A, van der Luijt, R B, Hall, P, Chenevix-Trench, G, Dunning, A, Easton, D F & Cox, A 2015, ' Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk ', Human Molecular Genetics, vol. 24, no. 1, pp. 285-298 . https://doi.org/10.1093/hmg/ddu431
Human Molecular Genetics, 24(1), 285. Oxford University Press
Human molecular genetics, 24(1), 285-298. Oxford University Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Molecular Genetics, 24(1), 285-298
Human Molecular Genetics, 24(1), 285-298. Oxford University Press
Lin, W Y, Camp, N J, Ghoussaini, M, Beesley, J, Michailidou, K, Hopper, J L, Apicella, C, Southey, M C, Stone, J, Schmidt, M K, Broeks, A, van 't Veer, L J, Rutgers, E J T, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Fasching, P A, Haeberle, L, Ekici, A B, Beckmann, M W, Peto, J, dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, M K, Wang, Q, Dennis, J, Sawyer, E J, Cheng, T, Tomlinson, I, Kerin, M J, Miller, N, Marme, F, Surowy, H M, Burwinkel, B, Guenel, P, Truong, T, Menegaux, F, Mulot, C, Bojesen, S E, Nordestgaard, B G, Nielsen, S F, Flyger, H, Benitez, J, Zamora, M P, Perez, J I A, Menendez, P, Gonzalez-Neira, A, Pita, G, Alonso, M R, Alvarez, N, Herrera, D, Anton-Culver, H, Brenner, H, Dieffenbach, A K, Arndt, V, Stegmaier, C, Meindl, A, Lichtner, P, Schmutzler, R K, Muller-Myhsok, B, Brauch, H, Bruning, T, Ko, Y D, Tessier, D C, Vincent, D, Bacot, F, Nevanlinna, H, Aittomaki, K, Blomqvist, C, Khan, S I, Matsuo, K, Ito, H, Iwata, H, Horio, A, Bogdanova, N V, Antonenkova, N N, Dork, T, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V M, Hartikainen, J M, Wu, A H, Tseng, C C, Berg, D, Stram, D O, Neven, P, Wauters, E, Wildiers, H, Lambrechts, D, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Radice, P, Peterlongo, P, Waisfisz, Q, Meijers-Heijboer, E J, Adank, M A, van der Luijt, R B, Hall, P, Chenevix-Trench, G, Dunning, A, Easton, D F & Cox, A 2015, ' Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk ', Human Molecular Genetics, vol. 24, no. 1, pp. 285-298 . https://doi.org/10.1093/hmg/ddu431
Human Molecular Genetics, 24(1), 285. Oxford University Press
Human molecular genetics, 24(1), 285-298. Oxford University Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Molecular Genetics, 24(1), 285-298
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccbe1d4295dddb879eb50fb7e95872a6
https://doi.org/10.1093/hmg/ddu431
https://doi.org/10.1093/hmg/ddu431
Autor:
Sharma, M, Wenning, G, Krüger, R, European Multiple-System Atrophy Study Group (Sharma, M, Lichtner, P, Albanese, Donatella, Barone, P, Berciano, J, Bloem, Br, Coelho, M, Goldwurm, S, Infante, J, Klockgether, T, Ortega-Cubero, S, Del Sorbo, F, Pezzoli, G, Canesi, M, Tesei, S, Zecchinelli, A, Sacilotto, G, Meucci, N, Mariani, C, Cilia, R, Zini, M, Siri, C, Pellecchia, Mt, Picillo, M, Amboni, M, Schulte, C, Martí, Mj, Sampaio, C, Ferreira, J, Levin, J, Nilsson, Cf, Widner, H, Østergaard, K, Oertel, W, Pastor, P, Storch, A, Seppi, K, Geser, F, Krismer, F, Mahlknecht, P, Sprenger, Fs, Schöls, L, Tolosa, E, Wüllner, U, van de Warrenburg BP, Poewe, W, Gasser, T, Krüger, R. ).
Publikováno v:
The New England journal of medicine 371(1), 80-83 (2014). doi:10.1056/NEJMc1311763
To the Editor: Tsuji and colleagues (July 18 issue)1 report that variants in the gene encoding coenzyme Q2 (COQ2) increase the risk of multiple-system atrophy. They observed homozygous COQ2 variants encoding the substitutions M78V and V343A in a cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b872d7d0bdd6e3c0eb5d9c8a06baaaf
http://hdl.handle.net/11386/4707172
http://hdl.handle.net/11386/4707172
Autor:
Khan, S., Greco, D., Michailidou, K., Milne, R.L., Muranen, T.A., Heikkinen, T., Aaltonen, K., Dennis, J., Bolla, M.K., Liu, J., Hall, P., Irwanto, A., Humphreys, K., Li, J., Czene, K., Chang-Claude, J., Hein, R., Rudolph, A., Seibold, P., Flesch-Janys, D., Fletcher, O., Peto, J., Silva, I.D., Johnson, N., Gibson, L., Aitken, Z., Hopper, J.L., Tsimiklis, H., Bui, M., Makalic, E., Schmidt, D.F., Southey, M.C., Apicella, C., Stone, J., Waisfisz, Q., Meijers-Heijboer, H., Adank, M.A., Luijt, R.B. van der, Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Turnbull, C., Rahman, N., Chanock, S.J., Hunter, D.J., Cox, A., Cross, S.S., Reed, M.W.R., Schmidt, M.K., Broeks, A., Van't Veer, L.J., Hogervorst, F.B., Fasching, P.A., Schrauder, M.G., Ekici, A.B., Beckmann, M.W., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Benitez, J., Zamora, P.M., Perez, J.I.A., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Pharoah, P.D.P., Dunning, A.M., Shah, M., Luben, R., Brown, J., Couch, F.J., Wang, X., Vachon, C., Olson, J.E., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M.R., Guenel, P., Truong, T., Laurent-Puig, P., Mulot, C., Marme, F., Burwinkel, B., Schneeweiss, A., Sohn, C., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Andrulis, I.L., Knight, J.A., Tchatchou, S., Mulligan, A.M., Dork, T., Bogdanova, N.V., Antonenkova, N.N., Anton-Culver, H., Darabi, H., Eriksson, M., Garcia-Closas, M., Figueroa, J., Lissowska, J., Brinton, L., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Kristensen, V.N., Slager, S., Toland, A.E., Ambrosone, C.B., Yannoukakos, D., Lindblom, A., Margolin, S., Radice, P., Peterlongo, P., Barile, M., Mariani, P., Hooning, M.J., Martens, J.W.M., Collee, J.M., Jager, A., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Giles, G.G., McLean, C., Brauch, H., Bruning, T., Ko, Y.D., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Jones, M., Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Kataja, V., Kosma, V.M., Hartikainen, J.M., Mannermaa, A., Hamann, U., Chenevix-Trench, G., Blomqvist, C., Aittomaki, K., Easton, D.F., Nevanlinna, H., KConFab Investigators, Australian Ovarian Canc Study Grp, GENICA Network
Publikováno v:
PLoS ONE, 9(11)
PLOS ONE
PLoS ONE 9:e109973 (2014)
PLoS ONE
PLoS ONE, 9(11):e109973. Public Library of Science
Khan, S, Greco, D, Michailidou, K, Milne, R L, Muranen, T A, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, M K, Liu, J, Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, dos Santos Silva, I, Johnson, N, Gibson, L, Aitken, Z, Hopper, J L, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, D F, Southey, M C, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H, Adank, M A, van der Luijt, R B, Meindl, A, Schmutzler, R K, Müller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, S J, Hunter, D J, Cox, A, Cross, S S, Reed, M W R, Orr, N & kConFab Investigators 2014, ' MicroRNA related polymorphisms and breast cancer risk ' PloS one, vol. 9, no. 11, e109973 . DOI: 10.1371/journal.pone.0109973
Khan, S M, Greco, D, Michailidou, K, Milne, R L, Muranen, T A, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, M K, Liu, J, Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, dos, S S I, Johnson, N, Gibson, L, Aitken, Z, Hopper, J L, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, D F, Southey, M C, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H E, Adank, M A, van der Luijt, R B, Meindl, A, Schmutzler, R K, Muller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, S J, Hunter, D J, Cox, A, Cross, S S, Reed, M W, Schmidt, M K, Broeks, A, van 't Veer, L J, Hogervorst, FB, Fasching, P A, Schrauder, M G, Ekici, A B, Beckmann, M W, Bojesen, S E, Nordestgaard, B G, Nielsen, S F, Flyger, H, Benitez, J, Zamora, P M, Perez, J I, Haiman, C A, Henderson, B E, Schumacher, F, Le, M L, Pharoah, P D, Dunning, A M, Shah, M, Luben, R, Brown, J, Couch, F J, Wang, X, Vachon, C, Olson, J E, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, M R, Guenel, P, Truong, T, Laurent-Puig, P, Mulot, C, Marme, F, Burwinkel, B, Schneeweiss, A, Sohn, C, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Andrulis, I L, Knight, J A, Tchatchou, S, Mulligan, A M, Dork, T, Bogdanova, N V, Easton, D F & Nevanlinna, H 2014, ' MicroRNA related polymorphisms and breast cancer risk ', PLoS ONE, vol. 9, no. 11, e109973 . https://doi.org/10.1371/journal.pone.0109973
PLoS One (print), 9(11). Public Library of Science
PLoS ONE, Vol 9, Iss 11, p e109973 (2014)
PLOS ONE
PLoS ONE 9:e109973 (2014)
PLoS ONE
PLoS ONE, 9(11):e109973. Public Library of Science
Khan, S, Greco, D, Michailidou, K, Milne, R L, Muranen, T A, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, M K, Liu, J, Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, dos Santos Silva, I, Johnson, N, Gibson, L, Aitken, Z, Hopper, J L, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, D F, Southey, M C, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H, Adank, M A, van der Luijt, R B, Meindl, A, Schmutzler, R K, Müller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, S J, Hunter, D J, Cox, A, Cross, S S, Reed, M W R, Orr, N & kConFab Investigators 2014, ' MicroRNA related polymorphisms and breast cancer risk ' PloS one, vol. 9, no. 11, e109973 . DOI: 10.1371/journal.pone.0109973
Khan, S M, Greco, D, Michailidou, K, Milne, R L, Muranen, T A, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, M K, Liu, J, Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, dos, S S I, Johnson, N, Gibson, L, Aitken, Z, Hopper, J L, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, D F, Southey, M C, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H E, Adank, M A, van der Luijt, R B, Meindl, A, Schmutzler, R K, Muller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, S J, Hunter, D J, Cox, A, Cross, S S, Reed, M W, Schmidt, M K, Broeks, A, van 't Veer, L J, Hogervorst, FB, Fasching, P A, Schrauder, M G, Ekici, A B, Beckmann, M W, Bojesen, S E, Nordestgaard, B G, Nielsen, S F, Flyger, H, Benitez, J, Zamora, P M, Perez, J I, Haiman, C A, Henderson, B E, Schumacher, F, Le, M L, Pharoah, P D, Dunning, A M, Shah, M, Luben, R, Brown, J, Couch, F J, Wang, X, Vachon, C, Olson, J E, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, M R, Guenel, P, Truong, T, Laurent-Puig, P, Mulot, C, Marme, F, Burwinkel, B, Schneeweiss, A, Sohn, C, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Andrulis, I L, Knight, J A, Tchatchou, S, Mulligan, A M, Dork, T, Bogdanova, N V, Easton, D F & Nevanlinna, H 2014, ' MicroRNA related polymorphisms and breast cancer risk ', PLoS ONE, vol. 9, no. 11, e109973 . https://doi.org/10.1371/journal.pone.0109973
PLoS One (print), 9(11). Public Library of Science
PLoS ONE, Vol 9, Iss 11, p e109973 (2014)
Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, an
Autor:
Sinner, M.F., Tucker, N.R., Lunetta, K.L., Ozaki, K., Smith, J.G., Trompet, S., Bis, J.C., Lin, H.H., Chung, M.K., Nielsen, J.B., Lubitz, S.A., Krijthe, B.P., Magnani, J.W., Ye, J.C., Gollob, M.H., Tsunoda, T., Muller-Nurasyid, M., Lichtner, P., Peters, A., Dolmatova, E., Kubo, M., Smith, J.D., Psaty, B.M., Smith, N.L., Jukema, W., Chasman, D.I., Albert, C.M., Ebana, Y., Furukawa, T., MacFarlane, P.W., Harris, T.B., Darbar, D., Dorr, M., Holst, A.G., Svendsen, J.H., Hofman, A., Uitterlinden, A.G., Gudnason, V., Isobe, M., Malik, R., Dichgans, M., Rosand, J., Wagoner, D.R. van, Benjamin, E.J., Milan, D.J., Melander, O., Heckbert, S.R., Ford, I., Liu, Y.M., Barnard, J., Olesen, M.S., Stricker, B.H.C., Tanaka, T., Kaeaeb, S., Ellinor, P.T., METASTROKE Consortium AFGen Consor
Publikováno v:
Circulation, 130(15), 1225-+. Lippincott Williams & Wilkins
Circulation
Circulation, 130(15), 1225
Circulation
Circulation, 130(15), 1225
Background— Atrial fibrillation (AF) affects >30 million individuals worldwide and is associated with an increased risk of stroke, heart failure, and death. AF is highly heritable, yet the genetic basis for the arrhythmia remains incompletely under
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df2e6712ebfd70426018aca455397086
https://pure.eur.nl/en/publications/1c7ae07f-5e57-4f01-aca5-d1c2cb37dc7f
https://pure.eur.nl/en/publications/1c7ae07f-5e57-4f01-aca5-d1c2cb37dc7f
Autor:
Michailidou, K., Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R.L., Schmidt, M.K., Chang-Claude, J., Bojesen, S.E., Bolla, M.K., Wang, Q., Dicks, E., Lee, A., Turnbull, C., Rahman, N., Fletcher, O., Peto, J., Gibson, L., Silva, I.D., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Czene, K., Irwanto, A., Liu, J.J., Waisfisz, Q., Meijers-Heijboer, H., Adank, M., Luijt, R.B. van der, Hein, R., Dahmen, N., Beckman, L., Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Hopper, J.L., Southey, M.C., Makalic, E., Schmidt, D.F., Uitterlinden, A.G., Hofman, A., Hunter, D.J., Chanock, S.J., Vincent, D., Bacot, F., Tessier, D.C., Canisius, S., Wessels, L.F.A., Haiman, C.A., Shah, M., Luben, R., Brown, J., Luccarini, C., Schoof, N., Humphreys, K., Li, J.M., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Couch, F.J., Wang, X.S., Vachon, C., Stevens, K.N., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M.R., Rudolph, A., Nickels, S., Flesch-Janys, D., Johnson, N., Aitken, Z., Aaltonen, K., Heikkinen, T., Broeks, A., Van't Veer, L.J., Schoot, C.E. van der, Guenel, P., Truong, T., Laurent-Puig, P., Menegaux, F., Marme, F., Schneeweiss, A., Sohn, C., Burwinke, B., Zamora, M.P., Perez, J.I.A., Pita, G., Alonso, M.R., Cox, A., Brock, I.W., Cross, S.S., Reed, M.W.R., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Henderson, B.E., Schumacher, F., Marchand, L. le, Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Lindblom, A., Margolin, S., Hooning, M.J., Hollestelle, A., Ouweland, A.M.W. van den, Jager, A., Bui, Q.M., Stone, J., Dite, G.S., Apicella, C., Tsimiklis, H., Giles, G.G., Severi, G., Baglietto, L., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Swerdlown, A., Ashworth, A., Orr, N., Jones, M., Figueroa, J., Lissowska, J., Brinton, L., Goldberg, M.S., Labreche, F., Dumont, M., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Brauch, H., Hamann, U., Bruning, T., Radice, P., Peterlongo, P., Manouldan, S., Bonanni, B., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Bogdanova, N.V., Antonenkova, N.N., Dork, T., Kristensen, V.N., Anton-Culver, H., Slager, S., Toland, A.E., Edge, S., Fostira, F., Kang, D., Yoo, K.Y., Noh, D.Y., Matsuo, K., Ito, H., Iwata, H., Sueta, A., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Shu, X.O., Lu, W., Gao, Y.T., Cai, H., Teo, S.H., Yip, C.H., Phuah, S.Y., Cornes, B.K., Hartman, M., Miao, H., Lim, W.Y., Sng, J.H., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Shen, C.Y., Hsiung, C.N., Wu, P.E., Ding, S.L., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Blot, W.J., Signorello, L.B., Cai, Q.Y., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J.R., Simard, J., Garcia-Closas, M., Pharoah, P.D.P., Chenevix-Trench, G., Dunning, A.M., Benitez, J., Easton, D.F., Breast Ovarian Canc Susceptibility, Hereditary Breast Ovarian Canc Res, kConFab Investigators, Australian Ovarian Can Study Grp, GENICA Gene Environm Interaction B
Publikováno v:
Nature genetics, 45(4). Nature Publishing Group
Nature Genetics; Vol 45
Nature Genetics, 45(4), 353-361
Nature Genetics, 45(4), 353-361. Nature Publishing Group
Michailidou, K, Hall, P, Gonzalez-Neira, A, Ghoussaini, M, Dennis, J, Milne, R L, Schmidt, M K, Chang-Claude, J, Bojesen, S E, Bolla, M K, Wang, Q, Dicks, E, Lee, A, Turnbull, C, Rahman, N, Fletcher, O, Peto, J, Gibson, L, Silva, I D, Nevanlinna, H, Muranen, T A, Aittomaki, K, Blomqvist, C, Czene, K, Irwanto, A, Liu, J J, Waisfisz, Q, Meijers-Heijboer, H, Adank, M, van der Luijt, R B, Hein, R, Dahmen, N, Beckman, L, Meindl, A, Schmutzler, R K, Muller-Myhsok, B, Lichtner, P, Hopper, J L, Southey, M C, Makalic, E, Schmidt, D F, Uitterlinden, A G, Hofman, A, Hunter, D J, Chanock, S J, Vincent, D, Bacot, F, Tessier, D C, Canisius, S, Wessels, L F A, Haiman, C A, Shah, M, Luben, R, Brown, J C, Luccarini, C, Schoof, N, Humphreys, K, Li, J M, Nordestgaard, B G, Nielsen, S F, Flyger, H, Couch, F J, Wang, X S, Vachon, C, Stevens, K N, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, M R, Rudolph, A, Nickels, S, Flesch-Janys, D, Johnson, N, Aitken, Z, Aaltonen, K, Heikkinen, T, Broeks, A, van 't Veer, L J, van der Schoot, C E, Guenel, P, Truong, T, Laurent-Puig, P, Menegaux, F, Marme, F, Schneeweiss, A, Sohn, C, Burwinke, B, Zamora, M P, Perez, J I A, Pita, G, Alonso, M R, Cox, A, Brock, I W, Cross, S S, Reed, M W R, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Benitez, J & Easton, D F 2013, ' Large-scale genotyping identifies 41 new loci associated with breast cancer risk ', Nature Genetics, vol. 45, no. 4, pp. 353-361 . https://doi.org/10.1038/ng.2563
Nature Genetics
Nature Genetics; Vol 45
Nature Genetics, 45(4), 353-361
Nature Genetics, 45(4), 353-361. Nature Publishing Group
Michailidou, K, Hall, P, Gonzalez-Neira, A, Ghoussaini, M, Dennis, J, Milne, R L, Schmidt, M K, Chang-Claude, J, Bojesen, S E, Bolla, M K, Wang, Q, Dicks, E, Lee, A, Turnbull, C, Rahman, N, Fletcher, O, Peto, J, Gibson, L, Silva, I D, Nevanlinna, H, Muranen, T A, Aittomaki, K, Blomqvist, C, Czene, K, Irwanto, A, Liu, J J, Waisfisz, Q, Meijers-Heijboer, H, Adank, M, van der Luijt, R B, Hein, R, Dahmen, N, Beckman, L, Meindl, A, Schmutzler, R K, Muller-Myhsok, B, Lichtner, P, Hopper, J L, Southey, M C, Makalic, E, Schmidt, D F, Uitterlinden, A G, Hofman, A, Hunter, D J, Chanock, S J, Vincent, D, Bacot, F, Tessier, D C, Canisius, S, Wessels, L F A, Haiman, C A, Shah, M, Luben, R, Brown, J C, Luccarini, C, Schoof, N, Humphreys, K, Li, J M, Nordestgaard, B G, Nielsen, S F, Flyger, H, Couch, F J, Wang, X S, Vachon, C, Stevens, K N, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, M R, Rudolph, A, Nickels, S, Flesch-Janys, D, Johnson, N, Aitken, Z, Aaltonen, K, Heikkinen, T, Broeks, A, van 't Veer, L J, van der Schoot, C E, Guenel, P, Truong, T, Laurent-Puig, P, Menegaux, F, Marme, F, Schneeweiss, A, Sohn, C, Burwinke, B, Zamora, M P, Perez, J I A, Pita, G, Alonso, M R, Cox, A, Brock, I W, Cross, S S, Reed, M W R, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Benitez, J & Easton, D F 2013, ' Large-scale genotyping identifies 41 new loci associated with breast cancer risk ', Nature Genetics, vol. 45, no. 4, pp. 353-361 . https://doi.org/10.1038/ng.2563
Nature Genetics
Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67ce99d85e1e04916e33425529f5e91
http://hdl.handle.net/10379/12885
http://hdl.handle.net/10379/12885
Autor:
Gao, C., Patel, C. J., Michailidou, K., Peters, U., Gong, J., Schildkraut, J., Schumacher, F. R., Zheng, W., Boffetta, P., Stucker, I., Willett, W., Gruber, S., Easton, D. F., Hunter, D. J., Sellers, T. A., Haiman, C., Henderson, B. E., Hung, R. J., Amos, C., Pierce, B. L., Lindström, S., Kraft, P., Hunter, D., Henderson, B., Sellers, T., Hopper, J. L., Southey, M. C., Makalic, E., Schmidt, D. F., Fletcher, O., Peto, J., Gibson, L., Silva, I. S., Waisfisz, Q., Meijers-Heijboer, H., Adank, M., van der Luijt, R. B., Uitterlinden, A. G., Hofman, A., Meindl, A., Schmutzler, R. K., Müller-Myhsok, B., Lichtner, P., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Chang-Claude, J., Hein, R., Dahmen, N., Beckman, L., Hall, P., Czene, K., Irwanto, A., Liu, J., Turnbull, C., Rahman, N., Cramer, D., Terry, K., Sutphen, R., Narod, S., Phelan, C., Risch, H., Pharoah, P., Gayther, S., Menon, U., Wentzensen, N.
Publikováno v:
On behalf of: the Colorectal Transdisciplinary Study (CORECT), Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE), Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI) & Transdisciplinary Research in Cancer of the Lung (TRICL) 2016, ' Mendelian randomization study of adiposity-related traits and risk of breast, ovarian, prostate, lung and colorectal cancer ', International Journal of Epidemiology, vol. 45, no. 3, pp. 896-908 . https://doi.org/10.1093/ije/dyw129
International Journal of Epidemiology
International Journal of Epidemiology, 45(3), 896-908. Oxford University Press
International Journal of Epidemiology
International Journal of Epidemiology, 45(3), 896-908. Oxford University Press
Background: Adiposity traits have been associated with risk of many cancers in observational studies, but whether these associations are causal is unclear. Mendelian randomization (MR) uses genetic predictors of risk factors as instrumental variables
Autor:
Rautanen, Anna, Mills, Tara C., Gordon, Anthony C., Hutton, Paula, Steffens, Michael, Nuamah, Rosamond, Chiche, Jean-Daniel, Parks, Tom, Chapman, Stephen J., Davenport, Emma E., Elliott, Katherine S., Bion, Julian, Lichtner, Peter, Meitinger, Thomas, Wienker, Thomas F., Caulfield, Mark, Mein, Charles, Bloos, Frank, Bobek, Ilona, Cotogni, Paolo, Sramek, Vladimir, Sarapuu, Silver, Kobilay, Makbule, Ranieri, V Marco, Rello, Jordi, Sirgo, Gonzalo, Weiss, Yoram G., Russwurm, Stefan, Schneider, E. Marion, Reinhart, Konrad, Holloway, Paul A. H., Knight, Julian C., Garrard, Chris S., Russell, James A., Walley, Keith R., Stüber, Frank, Hill, Adrian V S., Hinds, Charles J., Universitat Autònoma de Barcelona
Publikováno v:
Rautanen, Anna; Mills, Tara C; Gordon, Anthony C; Hutton, Paula; Steffens, Michael; Nuamah, Rosamond; Chiche, Jean-Daniel; Parks, Tom; Chapman, Stephen J; Davenport, Emma E; Elliott, Katherine S; Bion, Julian; Lichtner, Peter; Meitinger, Thomas; Wienker, Thomas F; Caulfield, Mark J; Mein, Charles; Bloos, Frank; Bobek, Ilona; Cotogni, Paolo; ... (2015). Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study. The lancet. Respiratory medicine, 3(1), pp. 53-60. Elsevier 10.1016/S2213-2600(14)70290-5
Lancet Resp. Med. 3, 53-60 (2014)
Lancet Resp. Med. 3, 53-60 (2014)
Background: Sepsis continues to be a major cause of death, disability, and health-care expenditure worldwide. Despite evidence suggesting that host genetics can influence sepsis outcomes, no specific loci have yet been convincingly replicated. The ai