학술논문

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학술논문
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'학술논문' 에서의 검색결과 5건 | 목록 1~10

  • 7 .
    Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
    저자
    by Olufunmilayo I. Olopade; Darcy L. Thull; Raanan Berger; Mary Beth Terry; Michel Longy, et al. 
    소스
    Human Mutation
    Human Mutation, Wiley, 2018, 39 (5), pp.593-620. ⟨10.1002/humu.23406⟩
    Dipòsit Digital de la UB
    Universidad de Barcelona
    Rebbeck, T R, Friebel, T M, Friedman, E, Hamann, U, Huo, D, Kwong, A, Olah, E, Olopade, O I, Solano, A R, Teo, S-H, Thomassen, M, Weitzel, J N, Chan, T L, Couch, F J, Goldgar, D E, Kruse, T A, Palmero, E I, Park, S K, Torres, D, van Rensburg, E J, McGuffog, L, Parsons, M T, Leslie, G, Aalfs, C M, Abugattas, J, Adlard, J, Agata, S, Aittomäki, K, Andrews, L, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Asseryanis, E, Auerbach, L, Azzollini, J, Balmaña, J, Barile, M, Barkardottir, R B, Barrowdale, D, Benitez, J, Berger, A, Berger, R, Blanco, A M, Blazer, K R, Blok, M J, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caldes, T, Caliebe, A, Caligo, M A, Campbell, I, Caputo, S M, Chiquette, J, Chung, W K, Claes, K B M, Collée, J M, Cook, J, Davidson, R, de la Hoya, M, De Leeneer, K, de Pauw, A, Delnatte, C, Diez, O, Ding, Y C, Ditsch, N, Domchek, S M, Dorfling, C M, Velazquez, C, Dworniczak, B, Eason, J, Easton, D F, Eeles, R, Ehrencrona, H, Ejlertsen, B, EMBRACE, Engel, C, Engert, S, Evans, D G, Faivre, L, Feliubadaló, L, Ferrer, S F, Foretova, L, Fowler, J, Frost, D, Galvão, H C R, Ganz, P A, Garber, J, Gauthier-Villars, M, Gehrig, A, GEMO Study Collaborators, Gerdes, A-M, Gesta, P, Giannini, G, Giraud, S, Glendon, G, Godwin, A K, Greene, M H, Gronwald, J, Gutierrez-Barrera, A, Hahnen, E, Hauke, J, HEBON, Henderson, A, Hentschel, J, Hogervorst, F B L, Honisch, E, Imyanitov, E N, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, P, Janavicius, R, Jensen, U B, John, E M, Vijai, J, Kaczmarek, K, Karlan, B Y, Kast, K, KConFab Investigators, Kim, S-W, Konstantopoulou, I, Korach, J, Laitman, Y, Lasa, A, Lasset, C, Lázaro, C, Lee, A, Lee, M H, Lester, J, Lesueur, F, Liljegren, A, Lindor, N M, Longy, M, Loud, J T, Lu, K H, Lubinski, J, Machackova, E, Manoukian, S, Mari, V, Martínez-Bouzas, C, Matrai, Z, Mebirouk, N, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A, Mickys, U, Miller, A, Montagna, M, Moysich, K B, Mulligan, A M, Musinsky, J, Neuhausen, S L, Nevanlinna, H, Ngeow, J, Nguyen, H P, Niederacher, D, Nielsen, H R, Nielsen, F C, Nussbaum, R L, Offit, K, Öfverholm, A, Ong, K-R, Osorio, A, Papi, L, Papp, J, Pasini, B, Pedersen, I S, Peixoto, A, Peruga, N, Peterlongo, P, Pohl, E, Pradhan, N, Prajzendanc, K, Prieur, F, Pujol, P, Radice, P, Ramus, S J, Rantala, J, Rashid, M U, Rhiem, K, Robson, M, Rodriguez, G C, Rogers, M T, Rudaitis, V, Schmidt, A Y, Schmutzler, R K, Senter, L, Shah, P D, Sharma, P, Side, L E, Simard, J, Singer, C F, Skytte, A-B, Slavin, T P, Snape, K, Sobol, H, Southey, M C, Steele, L, Steinemann, D, Sukiennicki, G, Sutter, C, Szabo, C I, Tan, Y Y, Teixeira, M R, Terry, M B, Teulé, A, Thomas, A, Thull, D L, Tischkowitz, M, Tognazzo, S, Toland, A E, Topka, S, Trainer, A H, Tung, N, van Asperen, C J, van der Hout, A H, van der Kolk, L E, van der Luijt, R B, Van Heetvelde, M, Varesco, L, Varon-Mateeva, R, Vega, A, Villarreal-Garza, C, von Wachenfeldt, A, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Weber, B H F, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zidan, J, Zorn, K K, Selkirk, C G H, Hulick, P J, Chenevix-Trench, G, Spurdle, A B, Antoniou, A C & Nathanson, K L 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
    Jensen, U B 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. ' . https://doi.org/10.1002/humu.23406
    Human Mutation, 39, 5, pp. 593-620
    Human Mutation, 39(5), 593-620. Wiley
    Human Mutation: Variation, Informatics and Disease, 39(5), 593-620
    Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
    Consejería de Sanidad de la Comunidad de Madrid
    Rebbeck, T R, Friebel, T M, Friedman, E, Hamann, U, Huo, D, Kwong, A, Olah, E, Olopade, O I, Solano, A R, Teo, S-H, Thomassen, M, Weitzel, J N, Chan, T L, Couch, F J, Goldgar, D E, Kruse, T A, Palmero, E I, Park, S K, Torres, D, van Rensburg, E J, McGuffog, L, Parsons, M T, Leslie, G, Aalfs, C M, Abugattas, J, Adlard, J, Agata, S, Aittomäki, K, Andrews, L, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Asseryanis, E, Auerbach, L, Azzollini, J, Balmaña, J, Barile, M, Barkardottir, R B, Barrowdale, D, Benitez, J, Berger, A, Berger, R, Blanco, A M, Blazer, K R, Blok, M J, Bonadona, V, Gerdes, A-M, Nielsen, H R, Skytte, A-B & EMBRACE 2018, ' Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
    HUMAN MUTATION
    r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
    instname
    Human Mutation, 39, 593-620
    Human Mutation, 39(5), 593-620. Wiley-Liss Inc.
    Digital.CSIC. Repositorio Institucional del CSIC
    EMBRACE, GEMO Study Collaborators, HEBON & KConFab Investigators 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
    EMBRACE 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
    Human mutation, 39(5), 593-620. Wiley-Liss Inc.
    The CIMBA Consortium & Evans, D G 2018, ' Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations ', Human Mutation . https://doi.org/10.1002/humu.23406
    Rebbeck, TR; Friebel, TM; Friedman, E; Hamann, U; Huo, D; Kwong, A; et al.(2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. HUMAN MUTATION, 39(5), 593-620. doi: 10.1002/humu.23406. UCLA: Retrieved from: http://www.escholarship.org/uc/item/3q49q09h
  • 7 .
    Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
    저자
    by Eitan Friedman; Mattias Van Heetvelde; Jennifer B. Permuth; Joseph Vijai; Patricia A. Ganz, et al. 
    소스
    Nature Genetics, 49(5), 680-691. Nature Publishing Group
    Digital.CSIC. Repositorio Institucional del CSIC
    instname
    Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J, Chornokur, G, Earp, M A, Lyra, P C, Lee, J M, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A R, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, C M, Aben, K K H, Adams, M, Adlard, J, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arnold, N, Arun, B K, Arver, B, Azzollini, J, Balmaña, J, Banerjee, S N, Barjhoux, L, Barkardottir, R B, Bean, Y T, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Birrer, M J, Bjorge, L, Black, A, Blankstein, K, Blok, M J, Pedersen, I S & AOCS study group 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, no. 5, pp. 680-691 . https://doi.org/10.1038/ng.3826
    Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
    Consejería de Sanidad de la Comunidad de Madrid
    Nature Genetics, 49(5), 680. Nature Publishing Group
    Recercat. Dipósit de la Recerca de Catalunya
    Nature Genetics, 49(5), 680-+. Nature Publishing Group
    NATURE GENETICS
    Nature Genetics
    Nature genetics, 49(5), 680-691. Nature Publishing Group
    Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J, Chornokur, G, Earp, M A, Lyra, P C, Lee, J M, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, C M, Aben, K K H, Adams, M, Adlard, J, Andrulis, I L, Anton-Culver, H, Antonenkova, N, Aravantinos, G, Arnold, N, Arun, B K, Arver, B, Azzollini, J, Balmana, J, Banerjee, S N, Barjhoux, L, Barkardottir, R B, Bean, Y, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Birrer, M J, Bjorge, L, Black, A, Blankstein, K, Blok, M J, Jensen, U B, AOCS Study Grp, EMEMBRACE Study, GEMO Study Collaborators, HEBON Study & OPAL Study Grp 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, no. 5, pp. 680-+ . https://doi.org/10.1038/ng.3826
    Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J, Chornokur, G, Earp, M A, Lyra, P C, Lee, J M, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, C M, Aben, K K H, Adams, M, Adlard, J, Andrulis, I L, Anton-Culver, H, Antonenkova, N, Aravantinos, G, Arnold, N, Arun, B K, Arver, B, Azzollini, J, Balmaña, J, Banerjee, S N, Barjhoux, L, Barkardottir, R B, Bean, Y, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Birrer, M J, Bjorge, L, Black, A, Blankstein, K, Hooning, M J, Meijers-Heijboer, H, HEBON Study, AOCS study group, EMBRACE Study, OPAL study group, KConFab Investigators & GEMO Study Collaborators 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, no. 5, pp. 680-691 . https://doi.org/10.1038/ng.3826
    Dipòsit Digital de la UB
    Universidad de Barcelona
    Nature Genetics, Nature Publishing Group, 2017, 49 (5), pp.680-691. ⟨10.1038/ng.3826⟩
    Nature Genetics, 49(5), 680
    Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J & Orr, N 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, pp. 680-691 . https://doi.org/10.1038/ng.3826
    Nature Genetics, 49, 5, pp. 680-691
    Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J, Chornokur, G, Earp, M A, Lyra, P C, Lee, J M, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, C M, Aben, K K H, Adams, M, Adlard, J, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arnold, N, Arun, B K, Arver, B, Azzollini, J, Balmaña, J, Banerjee, S N, Barjhoux, L, Barkardottir, R B, Bean, Y, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Birrer, M J, Bjorge, L, Bojesen, A, Gerdes, A-M, Kruse, T A, Thomassen, M & AOCS study group 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, no. 5, pp. 680-691 . https://doi.org/10.1038/ng.3826
    Nature Genetics, 49, 680-691
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