المؤلفون: Barnes D. R., Silvestri V., Leslie G., McGuffog L., Dennis J., Yang X., Adlard J., Agnarsson B. A., Ahmed M., Aittomaki K., Andrulis I. L., Arason A., Arnold N., Auber B., Azzollini J., Balmana J., Barkardottir R. B., Barrowdale D., Barwell J., Belotti M., Benitez J., Berthet P., Boonen S. E., Borg A., Bozsik A., Brady A. F., Brennan P., Brewer C., Brunet J., Bucalo A., Buys S. S., Caldes T., Caligo M. A., Campbell I., Cassingham H., Christensen L. L., Cini G., Claes K. B. M., Cook J., Coppa A., Cortesi L., Damante G., Darder E., Davidson R., De La Hoya M., De Leeneer K., De Putter R., Del Valle J., Diez O., Ding Y. C., Domchek S. M., Donaldson A., Eason J., Eeles R., Engel C., Evans D. G., Feliubadalo L., Fostira F., Frone M., Frost D., Gallagher D., Gehrig A., Giraud S., Glendon G., Godwin A. K., Goldgar D. E., Greene M. H., Gregory H., Gross E., Hahnen E., Hamann U., Hansen T. V. O., Hanson H., Hentschel J., Horvath J., Izatt L., Izquierdo A., James P. A., Janavicius R., Jensen U. B., Johannsson O. T., John E. M., Kramer G., Kroeldrup L., Kruse T. A., Lautrup C., Lazaro C., Lesueur F., Lopez-Fernandez A., Mai P. L., Manoukian S., Matrai Z., Matricardi L., Maxwell K. N., Mebirouk N., Meindl A., Montagna M., Monteiro A. N., Morrison P. J., Muranen T. A., Murray A., Nathanson K. L., Neuhausen S. L., Nevanlinna H., Nguyen-Dumont T., Niederacher D., Olah E., Olopade O. I., Palli D., Parsons M. T., Pedersen I. S., Peissel B., Perez-Segura P., Peterlongo P., Petersen A. H., Pinto P., Porteous M. E., Pottinger C., Pujana M. A., Radice P., Ramser J., Rantala J., Robson M., Rogers M. T., Ronlund K., Rump A., Sanchez De Abajo A. M., Shah P. D., Sharif S., Side L. E., Singer C. F., Stadler Z., Steele L., Stoppa-Lyonnet D., Sutter C., Tan Y. Y., Teixeira M. R., Teule A., Thull D. L., Tischkowitz M., Toland A. E., Tommasi S., Toss A., Trainer A. H., Tripathi V., Valentini V., Van Asperen C. J., Venturelli M., Viel A., Vijai J., Walker L., Wang-Gohrke S., Wappenschmidt B., Whaite A., Zanna I., Offit K., Thomassen M., Couch F. J., Schmutzler R. K., Simard J., Easton D. F., Chenevix-Trench G., Antoniou A. C., Ottini L.

المساهمون: Barnes, D. R., Silvestri, V., Leslie, G., Mcguffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomaki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmana, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Belotti, M., Benitez, J., Berthet, P., Boonen, S. E., Borg, A., Bozsik, A., Brady, A. F., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldes, T., Caligo, M. A., Campbell, I., Cassingham, H., Christensen, L. L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., De La Hoya, M., De Leeneer, K., De Putter, R., Del Valle, J., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Eeles, R., Engel, C., Evans, D. G., Feliubadalo, L., Fostira, F., Frone, M., Frost, D., Gallagher, D., Gehrig, A., Giraud, S., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gregory, H., Gross, E., Hahnen, E., Hamann, U., Hansen, T. V. O., Hanson, H., Hentschel, J., Horvath, J., Izatt, L., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., Johannsson, O. T., John, E. M., Kramer, G., Kroeldrup, L., Kruse, T. A., Lautrup, C., Lazaro, C., Lesueur, F., Lopez-Fernandez, A., Mai, P. L., Manoukian, S., Matrai, Z., Matricardi, L., Maxwell, K. N., Mebirouk, N., Meindl, A., Montagna, M., Monteiro, A. N., Morrison, P. J., Muranen, T. A.

مصطلحات موضوعية: Aged, 80 and over, BRCA1 Protein, BRCA2 Protein, Genetic Predisposition to Disease, Heterozygote, Human, Male, Mutation, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factor, Breast Neoplasm, Prostatic Neoplasms

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34320204; info:eu-repo/semantics/altIdentifier/wos/WOS:000748167200017; volume:114; issue:1; firstpage:109; lastpage:122; journal:JOURNAL OF THE NATIONAL CANCER INSTITUTE; http://hdl.handle.net/11380/1280528Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122613384

الإتاحة: https://doi.org/10.1093/jnci/djab147Test
http://hdl.handle.net/11380/1280528Test

المؤلفون: Barnes D. R., Silvestri V., Leslie G., McGuffog L., Dennis J., Yang X., Adlard J., Agnarsson B. A., Ahmed M., Aittomaki K., Andrulis I. L., Arason A., Arnold N., Auber B., Azzollini J., Balmana J., Barkardottir R. B., Barrowdale D., Barwell J., Belotti M., Benitez J., Berthet P., Boonen S. E., Borg A., Bozsik A., Brady A. F., Brennan P., Brewer C., Brunet J., Bucalo A., Buys S. S., Caldes T., Caligo M. A., Campbell I., Cassingham H., Christensen L. L., Cini G., Claes K. B. M., Cook J., Coppa A., Cortesi L., Damante G., Darder E., Davidson R., de la Hoya M., De Leeneer K., de Putter R., Del Valle J., Diez O., Ding Y. C., Domchek S. M., Donaldson A., Eason J., Eeles R., Engel C., Evans D. G., Feliubadalo L., Fostira F., Frone M., Frost D., Gallagher D., Gehrig A., Giraud S., Glendon G., Godwin A. K., Goldgar D. E., Greene M. H., Gregory H., Gross E., Hahnen E., Hamann U., Hansen T. V. O., Hanson H., Hentschel J., Horvath J., Izatt L., Izquierdo A., James P. A., Janavicius R., Jensen U. B., Johannsson O. T., John E. M., Kramer G., Kroeldrup L., Kruse T. A., Lautrup C., Lazaro C., Lesueur F., Lopez-Fernandez A., Mai P. L., Manoukian S., Matrai Z., Matricardi L., Maxwell K. N., Mebirouk N., Meindl A., Montagna M., Monteiro A. N., Morrison P. J., Muranen T. A., Murray A., Nathanson K. L., Neuhausen S. L., Nevanlinna H., Nguyen-Dumont T., Niederacher D., Olah E., Olopade O. I., Palli D., Parsons M. T., Pedersen I. S., Peissel B., Perez-Segura P., Peterlongo P., Petersen A. H., Pinto P., Porteous M. E., Pottinger C., Pujana M. A., Radice P., Ramser J., Rantala J., Robson M., Rogers M. T., Ronlund K., Rump A., Sanchez de Abajo A. M., Shah P. D., Sharif S., Side L. E., Singer C. F., Stadler Z., Steele L., Stoppa-Lyonnet D., Sutter C., Tan Y. Y., Teixeira M. R., Teule A., Thull D. L., Tischkowitz M., Toland A. E., Tommasi S., Toss A., Trainer A. H., Tripathi V., Valentini V., van Asperen C. J., Venturelli M., Viel A., Vijai J., Walker L., Wang-Gohrke S., Wappenschmidt B., Whaite A., Zanna I., Offit K., Thomassen M., Couch F. J., Schmutzler R. K., Simard J., Easton D. F., Chenevix-Trench G., Antoniou A. C., Ottini L.

المساهمون: Barnes, D. R., Silvestri, V., Leslie, G., Mcguffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomaki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmana, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Belotti, M., Benitez, J., Berthet, P., Boonen, S. E., Borg, A., Bozsik, A., Brady, A. F., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldes, T., Caligo, M. A., Campbell, I., Cassingham, H., Christensen, L. L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., de la Hoya, M., De Leeneer, K., de Putter, R., Del Valle, J., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Eeles, R., Engel, C., Evans, D. G., Feliubadalo, L., Fostira, F., Frone, M., Frost, D., Gallagher, D., Gehrig, A., Giraud, S., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gregory, H., Gross, E., Hahnen, E., Hamann, U., Hansen, T. V. O., Hanson, H., Hentschel, J., Horvath, J., Izatt, L., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., Johannsson, O. T., John, E. M., Kramer, G., Kroeldrup, L., Kruse, T. A., Lautrup, C., Lazaro, C., Lesueur, F., Lopez-Fernandez, A., Mai, P. L., Manoukian, S., Matrai, Z., Matricardi, L., Maxwell, K. N., Mebirouk, N., Meindl, A., Montagna, M., Monteiro, A. N., Morrison, P. J., Muranen, T. A.

العلاقة: volume:114; issue:1; firstpage:109; lastpage:122; numberofpages:14; journal:JNCI Journal of the National Cancer Institute; http://hdl.handle.net/11390/1219382Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122613384

الإتاحة: https://doi.org/10.1093/jnci/djab147Test
http://hdl.handle.net/11390/1219382Test

المؤلفون: Copeland, H., Low, K.J., Wynn, S., Ahmed, A., Arthur, V., Balasubramanian, M., Bennett, K., Berg, J., Bertoli, M., Bryson, L., Bucknall, C., Campbell, J., Chandler, K., Chauhan, J., Clarkson, A., Coles, R., Conti, H., Costello, P., Coupar, T., Craig, A., Dean, J., Dillon, A., Dixit, A., Drew, K., Eason, J., Forzano, F., Foulds, N., Gardham, A., Ghali, N., Green, A., Hanna, W., Harrison, R., Hegarty, M., Higgs, J., Holder, M., Irving, R., Jain, V., Johnson, K., Jolley, R., Jones, W., Jones, G., Joss, S., Kalinauskiene, R., Kanini, F., Kavanagh, K., Khan, M., Khan, N., Kivuva, E., Lahiri, N., Lakhani, N., Lampe, A., Lynch, S.A., Mansour, S., Marsden, A., Massey, H., McKee, S., Mohammed, S., Naik, S., Nesarajah, M., Newbury-Ecob, R., Osborne, F., Parker, M.J., Patterson, J., Pottinger, C., Prapa, M., Prescott, K., Quinn, S., Radley, J.A., Robart, S., Ross, A., Rosti, G., Sansbury, F., Sarkar, A., Searle, C., Shannon, N., Shears, D., Smithson, S., Stewart, H., Suri, M., Tadros, S., Theobald, R., Thomas, R., Tsoulaki, O., Vasudevan, P., Verdesoto, M., Vittery, E., Whyte, S., Woods, E., Wright, T., Zocche, D., Firth, H.V., Wright, C.F.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/208872/3/2023.10.18.23297202v1.full.pdfTest; Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (Submitted: 2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint - medRxiv] (Submitted)

الإتاحة: https://doi.org/10.1101/2023.10.18.23297202Test
https://eprints.whiterose.ac.uk/208872Test/
https://eprints.whiterose.ac.uk/208872/3/2023.10.18.23297202v1.full.pdfTest

المؤلفون: Hakkaart, C, Pearson, JF, Marquart, L, Dennis, J, Wiggins, GAR, Barnes, DR, Robinson, BA, Mace, PD, Aittomäki, K, Andrulis, IL, Arun, BK, Azzollini, J, Balmaña, J, Barkardottir, RB, Belhadj, S, Berger, L, Blok, MJ, Boonen, SE, Borde, J, Bradbury, AR, Brunet, J, Buys, SS, Caligo, MA, Campbell, I, Chung, WK, Claes, KBM, GEMO Study Collaborators, EMBRACE Collaborators, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, FJ, Daly, MB, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, YC, Domchek, SM, Donaldson, A, Eason, J, Easton, DF, Ehrencrona, H, Engel, C, Evans, DG, Faust, U, Feliubadaló, L, Fostira, F, Friedman, E, Frone, M, Frost, D, Garber, J, Gayther, SA, Gehrig, A, Gesta, P, Godwin, AK, Goldgar, DE, Greene, MH, Hahnen, E, Hake, CR, Hamann, U, Hansen, TVO, Hauke, J, Hentschel, J, Herold, N, Honisch, E, Hulick, PJ, Imyanitov, EN, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, PA, Janavicius, R, John, EM, Joseph, V, Karlan, BY, Kemp, Z, Kirk, J, Konstantopoulou, I, Koudijs, M, Kwong, A, Laitman, Y, Lalloo, F, Lasset, C, Lautrup, C, Lazaro, C, Legrand, C, Leslie, G, Lesueur, F, Mai, PL, Manoukian, S, Mari, V, Martens, JWM, McGuffog, L, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Moserle, L, Mouret-Fourme, E, Musgrave, H, Nambot, S, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nguyen-Dumont, T, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, OI, Osorio, A, Ott, C-E, Park, SK, Parsons, MT, Pedersen, IS, Peixoto, A, Perez-Segura, P, Peterlongo, P, Pocza, T, Radice, P, Ramser, J, Rantala, J, Rodriguez, GC, Rønlund, K, Rosenberg, EH, Rossing, M, Schmutzler, RK, Shah, PD, Sharif, S, Sharma, P, Side, LE, Simard, J, Singer, CF, Snape, K, Steinemann, D, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Trainer, AH, Tripathi, V, Tung, N, van Engelen, K, van Rensburg, EJ, Vega, A, Viel, A, Walker, L, Weitzel, JN, Wevers, MR, Chenevix-Trench, G, Spurdle, AB, Antoniou, AC, Walker, LC

العلاقة: pii: 10.1038/s42003-022-03978-6; Hakkaart, C., Pearson, J. F., Marquart, L., Dennis, J., Wiggins, G. A. R., Barnes, D. R., Robinson, B. A., Mace, P. D., Aittomäki, K., Andrulis, I. L., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Belhadj, S., Berger, L., Blok, M. J., Boonen, S. E., Borde, J. ,. Walker, L. C. (2022). Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol, 5 (1), pp.1061-. https://doi.org/10.1038/s42003-022-03978-6Test.; http://hdl.handle.net/11343/320054Test

الإتاحة: https://doi.org/10.1038/s42003-022-03978-6Test
http://hdl.handle.net/11343/320054Test

المؤلفون: Li, S, Silvestri, V, Leslie, G, Rebbeck, TR, Neuhausen, SL, Hopper, JL, Nielsen, HR, Lee, A, Yang, X, McGuffog, L, Parsons, MT, Andrulis, IL, Arnold, N, Belotti, M, Borg, A, Buecher, B, Buys, SS, Caputo, SM, Chung, WK, Colas, C, Colonna, S, Cook, J, Daly, MB, de la Hoya, M, de Pauw, A, Delhomelle, H, Eason, J, Engel, C, Evans, DG, Faust, U, Fehm, TN, Fostira, F, Fountzilas, G, Frone, M, Garcia-Barberan, V, Garre, P, Gauthier-Villars, M, Gehrig, A, Glendon, G, Goldgar, DE, Golmard, L, Greene, MH, Hahnen, E, Hamann, U, Hanson, H, Hassan, T, Hentschel, J, Horvath, J, Izatt, L, Janavicius, R, Jiao, Y, John, EM, Karlan, BY, Kim, S-W, Konstantopoulou, I, Kwong, A, Lauge, A, Lee, JW, Lesueur, F, Mebirouk, N, Meindl, A, Mouret-Fourme, E, Musgrave, H, Yie, JNY, Niederacher, D, Park, SK, Pedersen, IS, Ramser, J, Ramus, SJ, Rantala, J, Rashid, MU, Reichl, F, Ritter, J, Rump, A, Santamarina, M, Saule, C, Schmidt, G, Schmutzler, RK, Senter, L, Shariff, S, Singer, CF, Southey, MC, Stoppa-Lyonnet, D, Sutter, C, Tan, Y, Teo, SH, Terry, MB, Thomassen, M, Tischkowitz, M, Toland, AE, Torres, D, Vega, A, Wagner, SA, Wang-Gohrke, S, Wappenschmidt, B, Weber, BHF, Yannoukakos, D, Spurdle, AB, Easton, DF, Chenevix-Trench, G, Ottini, L, Antoniou, AC

العلاقة: Li, S., Silvestri, V., Leslie, G., Rebbeck, T. R., Neuhausen, S. L., Hopper, J. L., Nielsen, H. R., Lee, A., Yang, X., McGuffog, L., Parsons, M. T., Andrulis, I. L., Arnold, N., Belotti, M., Borg, A., Buecher, B., Buys, S. S., Caputo, S. M., Chung, W. K. ,. Antoniou, A. C. (2022). Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. JOURNAL OF CLINICAL ONCOLOGY, 40 (14), pp.1529-+. https://doi.org/10.1200/JCO.21.02112Test.; http://hdl.handle.net/11343/301470Test

الإتاحة: https://doi.org/10.1200/JCO.21.02112Test
http://hdl.handle.net/11343/301470Test

المؤلفون: Hakkaart, C, Pearson, JF, Marquart, L, Dennis, J, Wiggins, GAR, Barnes, DR, Robinson, BA, Mace, PD, Aittomäki, K, Andrulis, IL, Arun, BK, Azzollini, J, Balmaña, J, Barkardottir, RB, Belhadj, S, Berger, L, Blok, MJ, Boonen, SE, Borde, J, Bradbury, AR, Brunet, J, Buys, SS, Caligo, MA, Campbell, I, Chung, WK, Claes, KBM, GEMO Study Collaborators, EMBRACE Collaborators, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, FJ, Daly, MB, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, YC, Domchek, SM, Donaldson, A, Eason, J, Easton, DF, Ehrencrona, H, Engel, C, Evans, DG, Faust, U, Feliubadaló, L, Fostira, F, Friedman, E, Frone, M, Frost, D, Garber, J, Gayther, SA, Gehrig, A, Gesta, P, Godwin, AK, Goldgar, DE, Greene, MH, Hahnen, E, Hake, CR, Hamann, U, Hansen, TVO, Hauke, J, Hentschel, J, Herold, N, Honisch, E, Hulick, PJ, Imyanitov, EN, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, PA, Janavicius, R, John, EM, Joseph, V, Karlan, BY, Kemp, Z, Kirk, J, Konstantopoulou, I, Koudijs, M, Kwong, A, Laitman, Y, Lalloo, F, Lasset, C, Lautrup, C, Lazaro, C, Legrand, C, Leslie, G, Lesueur, F, Mai, PL, Manoukian, S, Mari, V, Martens, JWM, McGuffog, L, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Moserle, L, Mouret-Fourme, E, Musgrave, H, Nambot, S, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nguyen-Dumont, T, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, OI, Osorio, A, Ott, C-E, Park, SK, Parsons, MT, Pedersen, IS, Peixoto, A, Perez-Segura, P, Peterlongo, P, Pocza, T, Radice, P, Ramser, J, Rantala, J, Rodriguez, GC, Rønlund, K, Rosenberg, EH, Rossing, M, Schmutzler, RK, Shah, PD, Sharif, S, Sharma, P, Side, LE, Simard, J, Singer, CF, Snape, K, Steinemann, D, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Trainer, AH, Tripathi, V, Tung, N, van Engelen, K, van Rensburg, EJ, Vega, A, Viel, A, Walker, L, Weitzel, JN, Wevers, MR, Chenevix-Trench, G, Spurdle, AB, Antoniou, AC, Walker, LC

وصف الملف: application/pdf; other

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114906/1/s42003-022-03978-6.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114906/6/42003_2022_3978_MOESM1_ESM.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114906/11/42003_2022_3978_MOESM2_ESM.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114906/16/42003_2022_3978_MOESM3_ESM.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114906/21/42003_2022_3978_MOESM4_ESM.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114906/22/42003_2022_3978_MOESM5_ESM.pdfTest; Hakkaart, C; Pearson, JF; Marquart, L; Dennis, J; Wiggins, GAR; Barnes, DR; Robinson, BA; Mace, PD; Aittomäki, K; Andrulis, IL; et al. Hakkaart, C; Pearson, JF; Marquart, L; Dennis, J; Wiggins, GAR; Barnes, DR; Robinson, BA; Mace, PD; Aittomäki, K; Andrulis, IL; Arun, BK; Azzollini, J; Balmaña, J; Barkardottir, RB; Belhadj, S; Berger, L; Blok, MJ; Boonen, SE; Borde, J; Bradbury, AR; Brunet, J; Buys, SS; Caligo, MA; Campbell, I; Chung, WK; Claes, KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame, M-A; Cook, J; Cosgrove, C; Couch, FJ; Daly, MB; Dandiker, S; Davidson, R; de la Hoya, M; de Putter, R; Delnatte, C; Dhawan, M; Diez, O; Ding, YC; Domchek, SM; Donaldson, A; Eason, J; Easton, DF; Ehrencrona, H; Engel, C; Evans, DG; Faust, U; Feliubadaló, L; Fostira, F; Friedman, E; Frone, M; Frost, D; Garber, J; Gayther, SA; Gehrig, A; Gesta, P; Godwin, AK; Goldgar, DE; Greene, MH; Hahnen, E; Hake, CR; Hamann, U; Hansen, TVO; Hauke, J; Hentschel, J; Herold, N; Honisch, E; Hulick, PJ; Imyanitov, EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Isaacs, C; Izatt, L; Izquierdo, A; Jakubowska, A; James, PA; Janavicius, R; John, EM; Joseph, V; Karlan, BY; Kemp, Z; Kirk, J; Konstantopoulou, I; Koudijs, M; Kwong, A; Laitman, Y; Lalloo, F; Lasset, C; Lautrup, C; Lazaro, C; Legrand, C; Leslie, G; Lesueur, F; Mai, PL; Manoukian, S; Mari, V; Martens, JWM; McGuffog, L; Mebirouk, N; Meindl, A; Miller, A; Montagna, M; Moserle, L; Mouret-Fourme, E; Musgrave, H; Nambot, S; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Yie, JNY; Nguyen-Dumont, T; Nikitina-Zake, L; Offit, K; Olah, E; Olopade, OI; Osorio, A; Ott, C-E; Park, SK; Parsons, MT; Pedersen, IS; Peixoto, A; Perez-Segura, P; Peterlongo, P; Pocza, T; Radice, P; Ramser, J; Rantala, J; Rodriguez, GC; Rønlund, K; Rosenberg, EH; Rossing, M; Schmutzler, RK; Shah, PD; Sharif, S; Sharma, P; Side, LE; Simard, J; Singer, CF; Snape, K; Steinemann, D; Stoppa-Lyonnet, D; Sutter, C; Tan, YY; Teixeira, MR; Teo, SH; Thomassen, M; Thull, DL; Tischkowitz, M; Toland, AE; Trainer, AH; Tripathi, V; Tung, N; van Engelen, K; van Rensburg, EJ; Vega, A; Viel, A; Walker, L; Weitzel, JN; Wevers, MR; Chenevix-Trench, G; Spurdle, AB; Antoniou, AC; Walker, LC (2022) Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol, 5 (1). p. 1061. ISSN 2399-3642 https://doi.org/10.1038/s42003-022-03978-6Test SGUL Authors: Snape, Katie Mairwen Greenwood

الإتاحة: https://doi.org/10.1038/s42003-022-03978-6Test
https://openaccess.sgul.ac.uk/id/eprint/114906Test/
https://openaccess.sgul.ac.uk/id/eprint/114906/1/s42003-022-03978-6.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114906/6/42003_2022_3978_MOESM1_ESM.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114906/11/42003_2022_3978_MOESM2_ESM.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114906/16/42003_2022_3978_MOESM3_ESM.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114906/21/42003_2022_3978_MOESM4_ESM.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114906/22/42003_2022_3978_MOESM5_ESM.pdfTest

المؤلفون: Hardcastle, A., Berry, A. M., Campbell, I. M., Zhao, X., Liu, P., Gerard, A. E., Rosenfeld, J. A., Sisoudiya, S. D., Hernandez-Garcia, A., Loddo, S., Di Tommaso, S., Novelli, A., Dentici, M. L., Capolino, R., Digilio, M. C., Graziani, L., Rustad, C. F., Neas, K., Ferrero, G. B., Brusco, A., Di Gregorio, E., Wellesley, D., Beneteau, C., Joubert, M., Van Den Bogaert, K., Boogaerts, A., McMullan, D. J., Dean, J., Giuffrida, M. G., Bernardini, L., Varghese, V., Shannon, N. L., Harrison, R. E., Lam, W. W. K., McKee, S., Turnpenny, P. D., Cole, T., Morton, J., Eason, J., Jones, M. C., Hall, R., Wright, M., Horridge, K., Shaw, C. A., Chung, W. K., Scott, D. A.

مصطلحات موضوعية: Animals, DNA Copy Number Variations, Diaphragm, Hernias, Diaphragmatic, Congenital/genetics, Mice, Crebbp, DECIPHER database, Smarca4, Uba2, Usp9x, congenital diaphragmatic hernia

العلاقة: https://doi.org/10.1002/ajmg.a.62919Test; Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi:10.1002/ajmg.a.62919. Epub 2022 Jul 29.; https://rde.dspace-express.com/handle/11287/622542Test; American journal of medical genetics. Part A; PMC9474674

الإتاحة: https://doi.org/10.1002/ajmg.a.62919Test
https://rde.dspace-express.com/handle/11287/622542Test

المؤلفون: Towers, S., Wallace, D., Walker, J., Eason, J., Nelson, J., Grubesic, T.

المصدر: BMC public health

وصف الملف: application/pdf

العلاقة: https://publications.rifs-potsdam.de/pubman/item/item_6000927Test; https://publications.rifs-potsdam.de/pubman/item/item_6000927_3/component/file_6001698/6000927.pdfTest

الإتاحة: https://doi.org/10.1186/s12889-022-12813-wTest
https://publications.rifs-potsdam.de/pubman/item/item_6000927Test
https://publications.rifs-potsdam.de/pubman/item/item_6000927_3/component/file_6001698/6000927.pdfTest

المؤلفون: Coignard J., Lush M., Beesley J., O'Mara T. A., Dennis J., Tyrer J. P., Barnes D. R., McGuffog L., Leslie G., Bolla M. K., Adank M. A., Agata S., Ahearn T., Aittomaki K., Andrulis I. L., Anton-Culver H., Arndt V., Arnold N., Aronson K. J., Arun B. K., Augustinsson A., Azzollini J., Barrowdale D., Baynes C., Becher H., Bermisheva M., Bernstein L., Bialkowska K., Blomqvist C., Bojesen S. E., Bonanni B., Borg A., Brauch H., Brenner H., Burwinkel B., Buys S. S., Caldes T., Caligo M. A., Campa D., Carter B. D., Castelao J. E., Chang-Claude J., Chanock S. J., Chung W. K., Claes K. B. M., Clarke C. L., Bertrand O., Caputo S., Dupre A., Le Mentec M., Belotti M., Birot A. -M., Buecher B., Fourme E., Gauthier-Villars M., Golmard L., Houdayer C., Moncoutier V., de Pauw A., Saule C., Sinilnikova O., Mazoyer S., Damiola F., Barjhoux L., Verny-Pierre C., Leone M., Boutry-Kryza N., Calender A., Giraud S., Caron O., Guillaud-Bataille M., Bressac-de-Paillerets B., Bignon Y. -J., Uhrhammer N., Lasset C., Bonadona V., Berthet P., Vaur D., Castera L., Noguchi T., Popovici C., Sobol H., Bourdon V., Remenieras A., Nogues C., Coupier I., Pujol P., Dumont A., Revillion F., Adenis C., Muller D., Barouk-Simonet E., Bonnet F., Bubien V., Sevenet N., Longy M., Toulas C., Guimbaud R., Gladieff L., Feillel V., Leroux D., Dreyfus H., Rebischung C., Peysselon M., Coron F., Faivre L., Baurand A., Jacquot C., Bertolone G., Lizard S., Prieur F., Lebrun M., Kientz C., Ferrer S. F., Mari V., Venat-Bouvet L., Delnatte C., Bezieau S., Mortemousque I., Coulet F., Colas C., Soubrier F., Warcoin M., Sokolowska J., Bronner M., Collonge-Rame M. -A., Damette A., Gesta P., Lallaoui H., Chiesa J., Molina-Gomes D., Ingster O., Gregory H., Miedzybrodzka Z., Morrison P. J., Ong K. -R., Donaldson A., Rogers M. T., Kennedy M. J., Porteous M. E., Brewer C., Davidson R., Izatt L., Brady A., Barwell J., Adlard J., Foo C., Lalloo F., Side L. E., Eason J., Henderson A., Walker L., Eeles R. A., Cook J., Snape K., Eccles D., Murray A., McCann E., Collee J. M., Conroy D. M., Czene K., Daly M. B., Devilee P., Diez O., Ding Y. C., Domchek S. M., Dork T., dos-Santos-Silva I., Dunning A. M., Dwek M., Eccles D. M., Eliassen A. H., Engel C., Eriksson M., Evans D. G., Fasching P. A., Flyger H., Fostira F., Friedman E., Fritschi L., Frost D., Gago-Dominguez M., Gapstur S. M., Garber J., Garcia-Barberan V., Garcia-Closas M., Garcia-Saenz J. A., Gaudet M. M., Gayther S. A., Gehrig A., Georgoulias V., Giles G. G., Godwin A. K., Goldberg M. S., Goldgar D. E., Gonzalez-Neira A., Greene M. H., Guenel P., Haeberle L., Hahnen E., Haiman C. A., Hakansson N., Hall P., Hamann U., Harrington P. A., Hart S. N., He W., Hogervorst F. B. L., Hollestelle A., Hopper J. L., Horcasitas D. J., Hulick P. J., Hunter D. J., Imyanitov E. N., Fox S., Campbell I., Spurdle A., Webb P., de Fazio A., Tassell M., Kirk J., Lindeman G., Price M., Southey M., Milne R., Deb S., Bowtell D., van der Hout A. H., van den Ouweland A. M. W., Mensenkamp A. R., van Deurzen C. H. M., Kets C. M., Seynaeve C., van Asperen C. J., Aalfs C. M., Gomez Garcia E. B., van Leeuwen F. E., de Bock G. H., Meijers-Heijboer H. E. J., Obdeijn I. M., Gille J. J. P., Oosterwijk J. C., Wijnen J. T., van der Kolk L. E., Hooning M. J., Ausems M. G. E. M., Mourits M. J. E., Blok M. J., Rookus M. A., van der Luijt R. B., van Cronenburg T. C. T. E. F., van der Pol C. C., Russell N. S., Siesling S., Overbeek L., Wijnands R., de Lange J. L., Clarke C., Graham D., Sachchithananthan M., Marsh D., Scott R., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Simpson P., Jager A., Jakubowska A., James P. A., Jensen U. B., John E. M., Jones M. E., Kaaks R., Kapoor P. M., Karlan B. Y., Keeman R., Khusnutdinova E., Kiiski J. I., Ko Y. -D., Kosma V. -M., Kraft P., Kurian A. W., Laitman Y., Lambrechts D., Le Marchand L., Lester J., Lesueur F., Lindstrom T., Lopez-Fernandez A., Loud J. T., Luccarini C., Mannermaa A., Manoukian S., Margolin S., Martens J. W. M., Mebirouk N., Meindl A., Miller A., Milne R. L., Montagna M., Nathanson K. L., Neuhausen S. L., Nevanlinna H., Nielsen F. C., O'Brien K. M., Olopade O. I., Olson J. E., Olsson H., Osorio A., Ottini L., Park-Simon T. -W., Parsons M. T., Pedersen I. S., Peshkin B., Peterlongo P., Peto J., Pharoah P. D. P., Phillips K. -A., Polley E. C., Poppe B., Presneau N., Pujana M. A., Punie K., Radice P., Rantala J., Rashid M. U., Rennert G., Rennert H. S., Robson M., Romero A., Rossing M., Saloustros E., Sandler D. P., Santella R., Scheuner M. T., Schmidt M. K., Schmidt G., Scott C., Sharma P., Soucy P., Southey M. C., Spinelli J. J., Steinsnyder Z., Stone J., Stoppa-Lyonnet D., Swerdlow A., Tamimi R. M., Tapper W. J., Taylor J. A., Terry M. B., Teule A., Thull D. L., Tischkowitz M., Toland A. E., Torres D., Trainer A. H., Truong T., Tung N., Vachon C. M., Vega A., Vijai J., Wang Q., Wappenschmidt B., Weinberg C. R., Weitzel J. N., Wendt C., Wolk A., Yadav S., Yang X. R., Yannoukakos D., Zheng W., Ziogas A., Zorn K. K., Park S. K., Thomassen M., Offit K., Schmutzler R. K., Couch F. J., Simard J., Chenevix-Trench G., Easton D. F., Andrieu N., Antoniou A. C.

المساهمون: Coignard, J., Lush, M., Beesley, J., O'Mara, T. A., Dennis, J., Tyrer, J. P., Barnes, D. R., Mcguffog, L., Leslie, G., Bolla, M. K., Adank, M. A., Agata, S., Ahearn, T., Aittomaki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., Augustinsson, A., Azzollini, J., Barrowdale, D., Baynes, C., Becher, H., Bermisheva, M., Bernstein, L., Bialkowska, K., Blomqvist, C., Bojesen, S. E., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldes, T., Caligo, M. A., Campa, D., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Clarke, C. L., Bertrand, O., Caputo, S., Dupre, A., Le Mentec, M., Belotti, M., Birot, A. -M., Buecher, B., Fourme, E., Gauthier-Villars, M., Golmard, L., Houdayer, C., Moncoutier, V., de Pauw, A., Saule, C., Sinilnikova, O., Mazoyer, S., Damiola, F., Barjhoux, L., Verny-Pierre, C., Leone, M., Boutry-Kryza, N., Calender, A., Giraud, S., Caron, O., Guillaud-Bataille, M., Bressac-de-Paillerets, B., Bignon, Y. -J., Uhrhammer, N., Lasset, C., Bonadona, V., Berthet, P., Vaur, D., Castera, L., Noguchi, T., Popovici, C., Sobol, H., Bourdon, V., Remenieras, A., Nogues, C., Coupier, I., Pujol, P., Dumont, A., Revillion, F., Adenis, C., Muller, D., Barouk-Simonet, E., Bonnet, F., Bubien, V., Sevenet, N., Longy, M., Toulas, C., Guimbaud, R., Gladieff, L.

مصطلحات موضوعية: adult, allele, BRCA1 protein, BRCA2 protein, breast neoplasm, female, genetic predisposition to disease, genome-wide association study, genotype, human, linkage disequilibrium, middle aged, mutation, quantitative trait loci, risk factor, polymorphism, single nucleotide

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33597508; info:eu-repo/semantics/altIdentifier/wos/WOS:000621232400004; volume:12; issue:1; numberofpages:22; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11573/1525047Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101270098

الإتاحة: https://doi.org/10.1038/s41467-020-20496-3Test
http://hdl.handle.net/11573/1525047Test

المؤلفون: Chinyere, I.R., Bradley, P., Uhlorn, J., Eason, J., Mohran, S., Repetti, G.G., Daugherty, S., Koevary, J.W., Goldman, S., Lancaster, J.J.

المساهمون: Sarver Heart Center, University of Arizona, Physiological Sciences Gidp, University of Arizona, Department of Biomedical Engineering, University of Arizona

المصدر: Stem Cells International

العلاقة: Chinyere, I. R., Bradley, P., Uhlorn, J., Eason, J., Mohran, S., Repetti, G. G., Daugherty, S., Koevary, J. W., Goldman, S., & Lancaster, J. J. (2021). Epicardially Placed Bioengineered Cardiomyocyte Xenograft in Immune-Competent Rat Model of Heart Failure. Stem Cells International, 2021.; http://hdl.handle.net/10150/661436Test; Stem Cells International

الإتاحة: https://doi.org/10.1155/2021/9935679Test
http://hdl.handle.net/10150/661436Test