학술논문

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학술논문
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'학술논문' 에서의 검색결과 22건 | 목록 10~20

  • 11 .
    Putting genome-wide sequencing in neonates into perspective
    저자
    by Setareh Moghadasi; Emilia K. Bijlsma; Remco van Doorn; Monique Williams; Maartje van Rij, et al. 
    소스
    Genetics in Medicine, 21(5), 1074-1082. Lippincott Williams & Wilkins
    Genetics in Medicine, 21(5), 1074-1082
    Genetics in Medicine
    Genetics in medicine, 21(5), 1074-1082. Lippincott Williams and Wilkins
  • 17 .
    Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group
    저자
    by Luigi Mori; Maria Christina Sini; Michela Biancolella; Florentia Fostira; Andreas Hadjisavvas, et al. 
    소스
    Nielsen, S M, Eccles, D M, Romero, I L, Al-Mulla, F, Balmaña, J, Biancolella, M, Blok, R, Caligo, M A, Calvello, M, Capone, G L, Cavalli, P, Chan, T L C, Claes, K B M, Cortesi, L, Couch, F J, de la Hoya, M, De Toffol, S, Diez, O, Domchek, S M, Eeles, R, Efremidis, A, Fostira, F, Goldgar, D, Hadjisavvas, A, Hansen, T V O, Hirasawa, A, Houdayer, C, Kleiblova, P, Krieger, S, Lázaro, C, Loizidou, M, Manoukian, S, Mensenkamp, A R, Moghadasi, S, Monteiro, A N, Mori, L, Morrow, A, Naldi, N, Nielsen, H R, Olopade, O I, Pachter, N S, Palmero, E I, Pedersen, I S, Piane, M, Puzzo, M, Robson, M, Rossing, M, Sini, M C, Solano, A & Thomassen, M 2018, ' Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes : An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group ', JCO Precision Oncology, vol. 2 . https://doi.org/10.1200/PO.18.00091
    Nielsen, S M, Eccles, D M, Romero, I L, Al-Mulla, F, Balmaña, J, Biancolella, M, Blok, R, Caligo, M A, Calvello, M, Capone, G L, Cavalli, P, Chan, T L C, Claes, K B M, Cortesi, L, Couch, F J, de la Hoya, M, De Toffol, S, Diez, O, Domchek, S M, Eeles, R, Efremidis, A, Fostira, F, Goldgar, D, Hadjisavvas, A, Hansen, T V O, Hirasawa, A, Houdayer, C, Kleiblova, P, Krieger, S, Lázaro, C, Loizidou, M, Manoukian, S, Mensenkamp, A R, Moghadasi, S, Monteiro, A N, Mori, L, Morrow, A, Naldi, N, Nielsen, H R, Olopade, O I, Pachter, N S, Palmero, E I, Pedersen, I S, Piane, M, Puzzo, M, Robson, M, Rossing, M, Sini, M C, Solano, A, Soukupova, J, Tedaldi, G, Teixeira, M, Thomassen, M, Tibiletti, M G, Toland, A, Törngren, T, Vaccari, E, Varesco, L, Vega, A, Wallis, Y, Wappenschmidt, B, Weitzel, J, Spurdle, A B, De Nicolo, A & Gómez-García, E B 2018, ' Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes : An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group ', JCO Precision Oncology, vol. 2 . https://doi.org/10.1200/PO.18.00091
    JCO Precision Oncology, 2, 1-43. American Society of Clinical Oncology
    Journal of clinical oncology 2 (2018). doi:10.1200/PO.18.00091
    info:cnr-pdr/source/autori:Nielsen, Sarah M.; Eccles, Diana M.; Romero, Iris L.; Al-Mulla, Fand; Balmana, Judith; Biancolella, Michela; Blok, Rien; Caligo, Maria Adelaide; Calvello, Mariarosaria; Capone, Gabriele Lorenzo; Cavalli, Pietro; Chan, T. L. Chris; Claes, Kathleen B. M.; Cortesi, Laura; Couch, Fergus J.; de la Hoya, Miguel; de Toffol, Simona; Diez, Orland; Domchek, Susan M.; Eeles, Ros; Efremidis, Anna; Fostira, Florentia; Goldgar, David; Hadjisavvas, Andreas; Hansen, Thomas v O.; Hirasawa, Akira; Houdayer, Claude; Kleiblova, Petra; Krieger, Sophie; Lazaro, Conxi; Loizidou, Maria; Manoukian, Siranoush; Mensenkamp, Arjen R.; Moghadasi, Setareh; Monteiro, Alvaro N.; Mori, Luigi; Morrow, April; Naldi, Nadia; Nielsen, Henriette R.; Olopade, Olufunmilayo, I; Pachter, Nicholas S.; Palrnero, Edenir, I; Pedersen, Inge S.; Piane, Maria; Puzzo, Marianna; Robson, Mark; Rossing, Maria; Sini, Maria Christina; Solano, Angela; Soukupova, Jana; Tedaldi, Gianluca; Teixeira, Manuel; Thomassen, Mads; Tibiletti, Maria Grazia; Toland, Amanda; Torngren, Therese; Vaccari, Erica; Varesco, Liliana; Vega, Ana; Wallis, Yvonne; Wappenschmidt, Barbara; Weitzel, Jeffrey; Spurdle, Amanda B.; De Nicolo, Arcangela; Gomez-Garcia, Encarna B./titolo:Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1%2F2 Breast (and Breast%2FOvarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group/doi:10.1200%2FPO.18.00091/rivista:Journal of clinical oncology/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume:2
    JCO Precision Oncology
  • 17 .
    BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
    저자
    by Ian Tomlinson; Thérèse Truong; Henrik Flyger; Martha J. Shrubsole; Manjeet K. Bolla, et al. 
    소스
    Cancer Research
    Shimelis, H, Mesman, R L S, Von Nicolai, C, Ehlen, A, Guidugli, L, Martin, C, Calléja, F M G R, Meeks, H, Hallberg, E, Hinton, J, Lilyquist, J, Hu, C, Aalfs, C M, Aittomäki, K, Andrulis, I, Anton-Culver, H, Arndt, V, Beckmann, M W, Benitez, J, Bogdanova, N V, Bojesen, S E, Bolla, M K, Borresen-Dale, A L, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Brouwers, B, Brüning, T, Burwinkel, B, Chang-Claude, J, Chenevix-Trench, G, Cheng, C Y, Choi, J Y, Collée, J M, Cox, A, Cross, S S, Czene, K, Darabi, H, Dennis, J, Dörk, T, Dos-Santos-Silva, I, Dunning, A M, Fasching, P A, Figueroa, J, Flyger, H, García-Closas, M, Giles, G G, Glendon, G, Guénel, P, kConFab/AOCS Investigators & NBCS Collaborators 2017, ' BRCA2 hypomorphic missense variants confer moderate risks of breast cancer ', Cancer Research, vol. 77, no. 11, pp. 2789-2799 . https://doi.org/10.1158/0008-5472.CAN-16-2568
    Shimelis, H, Mesman, R L S, Von Nicolai, C, Ehlen, A, Guidugli, L, Martin, C, Calleja, F M, Meeks, H, Hallberg, E, Hinton, J, Lilyquist, J, Hu, C, Aalfs, C M, Aittomaki, K, Andrulis, I L, Anton-culver, H, Arndt, V, Beckmann, M W, Benitez, J J, Bogdanova, N, Bojesen, S E, Bolla, M K, Borresen-dale, A, Brauch, H, Brenner, H, Broeks, A, Brouwers, B, Bruning, T, Burwinkel, B, Chang-claude, J, Chenevix-trench, G, Cheng, C, Choi, J, Collée, J M, Cox, A, Cross, S S, Czene, K, Darabi, H, Dennis, J, Dork, T, Dos Santos Silva, I, Dunning, A M, Fasching, P A, Figueroa, J D, Flyger, H, Garcia-closas, M, Giles, G G, Glendon, G, Guenel, P, Haiman, C A, Hall, P, Hamann, U, Hartman, M, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Ito, H, Jakubowska, A, Kang, D, Kosma, V, Kristensen, V, Lai, K, Lambrechts, D, Le Marchand, L, Li, J, Lindblom, A, Lophatananon, A, Lubinski, J, Machackova, E, Mannermaa, A, Margolin, S, Marme, F, Matsuo, K, Miao, H, Michailidou, K, Milne, R L, Muir, K, Neuhausen, S L, Nevanlinna, H, Olson, J E, Olswold, C, Oosterwijk, J C, Osorio, A, Peterlongo, P, Peto, J, Pharoah, P D P, Pylkäs, K, Radice, P, Rashid, M U, Rhenius, V, Rudolph, A, Sangrajrang, S, Sawyer, E J, Schmidt, M K, Schoemaker, M J, Seynaeve, C M, Shah, M, Shen, C, Shrubsole, M J, Shu, X, Slager, S L, Southey, M C, Stram, D O, Swerdlow, A J, Teo, S H, Tomlinson, I, Torres, D, Truong, T, Van Asperen, C J, Van Der Kolk, L E, Wang, Q, Winqvist, R, Wu, A H, Yu, J, Zheng, W, Zheng, Y, Leary, J, Walker, L C, Foretova, L, Fostira, F, Claes, K, Varesco, L, Moghadasi, S, Easton, D F, Spurdle, A B, Devilee, P, Vrieling, H, Monteiro, A N, Goldgar, D E, Carreira, A, Vreeswijk, M P G & Couch, F J 2017, ' BRCA2 hypomorphic missense variants confer moderate risks of breast cancer ', Cancer Research, vol. 77, no. 11, pp. 2789-2799 . https://doi.org/10.1158/0008-5472.CAN-16-2568
    Cancer Research, 77(11), 2789-2799. AMER ASSOC CANCER RESEARCH
    Cancer Research, 77(11), 2789-2799. American Association for Cancer Research Inc.
    Cancer research, 77(11), 2789-2799. American Association for Cancer Research Inc.
    Cancer Research, 77(11), 2789-2799
  • 17 .
    Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
    저자
    by Luigi Mori; Sara González; Elia Grau; Dieter Niederacher; Alexandra C. Kölbl, et al. 
    소스
    Evans, D G, Lalloo, F, Woodward, E & et al. 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification ', Human Mutation . https://doi.org/10.1002/humu.23818
    Human Mutation
    r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
    instname
    Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Debatin, I, del Valle, J, Delnatte, C, Derive, N, Diez, O, Ditsch, N, Domchek, S M, Dutrannoy, V, Eccles, D M, Ehrencrona, H, Enders, U, Evans, D G, Faust, U, Felbor, U, Feroce, I, Fine, M, Galvao, H C R, Gambino, G, Gehrig, A, Gensini, F, Gerdes, A-M, Germani, A, Giesecke, J, Gismondi, V, Gómez, C, Gómez Garcia, E B, González, S, Grau, E, Grill, S, Gross, E, Guerrieri-Gonzaga, A, Guillaud-Bataille, M, Gutiérrez-Enríquez, S, Haaf, T, Hackmann, K, Hansen, T V O, Harris, M, Hauke, J, Heinrich, T, Hellebrand, H, Herold, K N, Honisch, E, Horvath, J, Houdayer, C, Hübbel, V, Iglesias, S, Izquierdo, A, James, P A, Janssen, L A M, Jeschke, U, Kaulfuß, S, Keupp, K, Kiechle, M, Kölbl, A, Krieger, S, Kruse, T A, Kvist, A, Lalloo, F, Larsen, M, Lattimore, V L, Lautrup, C, Ledig, S, Leinert, E, Lewis, A L, Lim, J, Loeffler, M, López-Fernández, A, Lucci-Cordisco, E, Maass, N, Manoukian, S, Marabelli, M, Matricardi, L, Meindl, A, Michelli, R D, Moghadasi, S, Moles-Fernández, A, Montagna, M, Montalban, G, Monteiro, A N, Montes, E, Mori, L, Moserle, L, Müller, C R, Mundhenke, C, Naldi, N, Nathanson, K L, Navarro, M, Nevanlinna, H, Nichols, C B, Niederacher, D, Nielsen, H R, Ong, K, Pachter, N, Palmero, E I, Papi, L, Pedersen, I S, Peissel, B, Pérez-Segura, P, Pfeifer, K, Pineda, M, Pohl-Rescigno, E, Poplawski, N K, Porfirio, B, Quante, A S, Ramser, J, Rei, R M, Revillion, F, Rhiem, K, Riboli, B, Ritter, J, Rivera, D, Rofes, P, Rump, A, Salinas, M, Sánchez de Abajo, A M, Schmidt, G, Schoenwiese, U, Seggewiß, J, Solanes, A, Steinemann, D, Stiller, M, Stoppa-Lyonnet, D, Sullivan, K J, Susman, R, Sutter, C, Tavtigian, S V, Teo, S H, Teulé, A, Thomassen, M, Tibiletti, M G, Tognazzo, S, Toland, A E, Tornero, E, Törngren, T, Torres-Esquius, S, Toss, A, Trainer, A H, van Asperen, C J, van Mackelenbergh, M T, Varesco, L, Vargas-Parra, G, Varon, R, Vega, A, Velasco, Á, Vesper, A-S, Viel, A, Vreeswijk, M P G, Wagner, S A, Waha, A, Walker, L C, Walters, R J, Wang-Gohrke, S, Weber, B H F, Weichert, W, Wieland, K, Wiesmüller, L, Witzel, I, Wöckel, A, Woodward, E R, Zachariae, S, Zampiga, V, Zeder-Göß, C, KConFab Investigators, Lázaro, C, De Nicolo, A, Radice, P, Engel, C, Schmutzler, R K, Goldgar, D E & Spurdle, A B 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
    Dipòsit Digital de la UB
    Universidad de Barcelona
    Repositório Científico de Acesso Aberto de Portugal
    Repositório Científico de Acesso Aberto de Portugal (RCAAP)
    instacron:RCAAP
    Human Mutation, 40(9), 1557-1578. WILEY
    Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Gerdes, A-M, Hansen, T V O, Kruse, T A, Nielsen, H R, Pedersen, I S, Lautrup, C K, Thomassen, M & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
    Human Mutation, Wiley, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩
    Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Gerdes, A-M, Hansen, T V O, Wagner, S A & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
    Human Mutation, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩
    Human Mutation, 40(9), 1557-1578. Wiley
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