المؤلفون: Pakdaman, Y, Berland, S, Bustad, HJ, Erdal, S, Thompson, BA, James, PA, Power, KN, Ellingsen, S, Krooni, M, Berge, LI, Sexton, A, Bindoff, LA, Knappskog, PM, Johansson, S, Aukrust, I

مصطلحات موضوعية: 0399 Other Chemical Sciences, 0604 Genetics, 0699 Other Biological Sciences, Chemical Physics, Adult, Age of Onset, Aged, Family, Female, Frontotemporal Dementia, Gene Expression, Genes, Dominant, Recessive, Heterozygote, Humans, Male, Middle Aged, Mutation, Pedigree, Protein Folding, Spinocerebellar Ataxias, Ubiquitin-Protein Ligases

وصف الملف: Electronic; application/pdf

العلاقة: Int J Mol Sci; Int J Mol Sci, 2021, 22, (11); http://hdl.handle.net/10453/154986Test

الإتاحة: http://hdl.handle.net/10453/154986Test

المؤلفون: Coignard, J, Lush, M, Beesley, J, O'Mara, TA, Dennis, J, Tyrer, JP, Barnes, DR, McGuffog, L, Leslie, G, Bolla, MK, Adank, MA, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Arnold, N, Aronson, KJ, Arun, BK, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, SE, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, SS, Caldés, T, Caligo, MA, Campa, D, Carter, BD, Castelao, JE, Chang-Claude, J, Chanock, SJ, Chung, WK, Claes, KBM, Clarke, CL, GEMO Study Collaborators, EMBRACE Collaborators, Collée, JM, Conroy, DM, Czene, K, Daly, MB, Devilee, P, Diez, O, Ding, YC, Domchek, SM, Dörk, T, Dos-Santos-Silva, I, Dunning, AM, Dwek, M, Eccles, DM, Eliassen, AH, Engel, C, Eriksson, M, Evans, DG, Fasching, PA, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-Dominguez, M, Gapstur, SM, Garber, J, Garcia-Barberan, V, García-Closas, M, García-Sáenz, JA, Gaudet, MM, Gayther, SA, Gehrig, A, Georgoulias, V, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Greene, MH, Guénel, P, Haeberle, L, Hahnen, E, Haiman, CA, Håkansson, N, Hall, P, Hamann, U, Harrington, PA, Hart, SN, He, W, Hogervorst, FBL, Hollestelle, A, Hopper, JL, Horcasitas, DJ, Hulick, PJ, Hunter, DJ, Imyanitov, EN, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Jager, A, Jakubowska, A, James, PA, Jensen, UB, John, EM, Jones, ME, Kaaks, R, Kapoor, PM, Karlan, BY, Keeman, R, Khusnutdinova, E, Kiiski, JI, Ko, Y-D, Kosma, V-M, Kraft, P, Kurian, AW, Laitman, Y, Lambrechts, D, Le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-Fernández, A, Loud, JT, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, JWM, Mebirouk, N, Meindl, A, Miller, A, Milne, RL, Montagna, M, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Nielsen, FC, O'Brien, KM, Olopade, OI, Olson, JE, Olsson, H, Osorio, A, Ottini, L, Park-Simon, T-W, Parsons, MT, Pedersen, IS, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, PDP, Phillips, K-A, Polley, EC, Poppe, B, Presneau, N, Pujana, MA, Punie, K, Radice, P, Rantala, J, Rashid, MU, Rennert, G, Rennert, HS, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, DP, Santella, R, Scheuner, MT, Schmidt, MK, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Southey, MC, Spinelli, JJ, Steinsnyder, Z, Stone, J, Stoppa-Lyonnet, D, Swerdlow, A, Tamimi, RM, Tapper, WJ, Taylor, JA, Terry, MB, Teulé, A, Thull, DL, Tischkowitz, M, Toland, AE, Torres, D, Trainer, AH, Truong, T, Tung, N, Vachon, CM, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wendt, C, Wolk, A, Yadav, S, Yang, XR, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, KK, Park, SK, Thomassen, M, Offit, K, Schmutzler, RK, Couch, FJ, Simard, J, Chenevix-Trench, G, Easton, DF, Andrieu, N, Antoniou, AC

مصطلحات موضوعية: Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Risk Factors, Genotype, Linkage Disequilibrium, Mutation, Polymorphism, Single Nucleotide, Alleles, Quantitative Trait Loci, Adult, Middle Aged, Female, Genome-Wide Association Study

وصف الملف: Electronic; application/pdf

العلاقة: Nature communications; Nature communications, 2021, 12, (1), pp. 1078; http://hdl.handle.net/10453/147486Test

الإتاحة: http://hdl.handle.net/10453/147486Test

المؤلفون: Coignard, J, Lush, M, Beesley, J, O'Mara, TA, Dennis, J, Tyrer, JP, Barnes, DR, McGuffog, L, Leslie, G, Bolla, MK, Adank, MA, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Arnold, N, Aronson, KJ, Arun, BK, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, SE, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, SS, Caldés, T, Caligo, MA, Campa, D, Carter, BD, Castelao, JE, Chang-Claude, J, Chanock, SJ, Chung, WK, Claes, KBM, Clarke, CL, GEMO Study Collaborators, EMBRACE Collaborators, Collée, JM, Conroy, DM, Czene, K, Daly, MB, Devilee, P, Diez, O, Ding, YC, Domchek, SM, Dörk, T, Dos-Santos-Silva, I, Dunning, AM, Dwek, M, Eccles, DM, Eliassen, AH, Engel, C, Eriksson, M, Evans, DG, Fasching, PA, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-Dominguez, M, Gapstur, SM, Garber, J, Garcia-Barberan, V, García-Closas, M, García-Sáenz, JA, Gaudet, MM, Gayther, SA, Gehrig, A, Georgoulias, V, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Greene, MH, Guénel, P, Haeberle, L, Hahnen, E, Haiman, CA, Håkansson, N, Hall, P, Hamann, U, Harrington, PA, Hart, SN, He, W, Hogervorst, FBL, Hollestelle, A, Hopper, JL, Horcasitas, DJ, Hulick, PJ, Hunter, DJ, Imyanitov, EN, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Jager, A, Jakubowska, A, James, PA, Jensen, UB, John, EM, Jones, ME, Kaaks, R, Kapoor, PM, Karlan, BY, Keeman, R, Khusnutdinova, E, Kiiski, JI, Ko, Y-D, Kosma, V-M, Kraft, P, Kurian, AW, Laitman, Y, Lambrechts, D, Le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-Fernández, A, Loud, JT, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, JWM, Mebirouk, N, Meindl, A, Miller, A, Milne, RL, Montagna, M, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Nielsen, FC, O'Brien, KM, Olopade, OI, Olson, JE, Olsson, H, Osorio, A, Ottini, L, Park-Simon, T-W, Parsons, MT, Pedersen, IS, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, PDP, Phillips, K-A, Polley, EC, Poppe, B, Presneau, N, Pujana, MA, Punie, K, Radice, P, Rantala, J, Rashid, MU, Rennert, G, Rennert, HS, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, DP, Santella, R, Scheuner, MT, Schmidt, MK, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Southey, MC, Spinelli, JJ, Steinsnyder, Z, Stone, J, Stoppa-Lyonnet, D, Swerdlow, A, Tamimi, RM, Tapper, WJ, Taylor, JA, Terry, MB, Teulé, A, Thull, DL, Tischkowitz, M, Toland, AE, Torres, D, Trainer, AH, Truong, T, Tung, N, Vachon, CM, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wendt, C, Wolk, A, Yadav, S, Yang, XR, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, KK, Park, SK, Thomassen, M, Offit, K, Schmutzler, RK, Couch, FJ, Simard, J, Chenevix-Trench, G, Easton, DF, Andrieu, N, Antoniou, AC

المساهمون: Jones, Michael

مصطلحات موضوعية: GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Risk Factors, Genotype, Linkage Disequilibrium, Mutation, Polymorphism, Single Nucleotide, Alleles, Quantitative Trait Loci, Adult, Middle Aged, Female, Genome-Wide Association Study

وصف الملف: Electronic; ?; application/pdf

العلاقة: Nature communications, 2021, 12 (1), pp. 1078 - ?; https://repository.icr.ac.uk/handle/internal/4489Test

الإتاحة: https://doi.org/10.1038/s41467-020-20496-3Test
https://repository.icr.ac.uk/handle/internal/4489Test

المؤلفون: Yanes, T, Kaur, R, Meiser, B, Scheepers-Joynt, M, McInerny, S, Barlow-Stewart, K, Antill, Y, Salmon, L, Smyth, C, James, PA, Young, MA

المصدر: urn:ISSN:1389-9600 ; urn:ISSN:1573-7292 ; Familial Cancer, 19, 4, 297-306

مصطلحات موضوعية: Breast Cancer, Clinical Research, Prevention, Cancer, 3 Good Health and Well Being, Adult, Aged, Breast Neoplasms, Comprehension, Decision Making, Female, Genetic Counseling, Genetic Testing, Health Knowledge, Attitudes, Practice, Humans, Middle Aged, Motivation, Psychosocial Intervention, Qualitative Research, Risk, Risk Assessment, Uncertainty, Polygenic risk scores, Psychosocial research, anzsrc-for: 1112 Oncology and Carcinogenesis

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_78569Test; https://unsworks.unsw.edu.au/bitstreams/e39e0d24-8ea2-4ce0-aad6-a46feb57a948/downloadTest; https://doi.org/10.1007/s10689-020-00185-2Test

الإتاحة: https://doi.org/10.1007/s10689-020-00185-2Test
http://hdl.handle.net/1959.4/unsworks_78569Test
https://unsworks.unsw.edu.au/bitstreams/e39e0d24-8ea2-4ce0-aad6-a46feb57a948/downloadTest

المؤلفون: Yanes, T, Meiser, B, Kaur, R, Scheepers-Joynt, M, McInerny, S, Taylor, S, Barlow-Stewart, K, Antill, Y, Salmon, L, Smyth, C, Young, MA, James, PA

المصدر: urn:ISSN:0009-9163 ; urn:ISSN:1399-0004 ; Clinical Genetics, 97, 3, 492-501

مصطلحات موضوعية: Cancer, Breast Cancer, Genetic Testing, Clinical Research, Prevention, Genetics, 7.1 Individual care needs, 7 Management of diseases and conditions, Adolescent, Adult, Aged, Breast Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Logistic Models, Middle Aged, Multifactorial Inheritance, Multivariate Analysis, Polymorphism, Single Nucleotide, Risk Factors, Young Adult, polygenic risk, psychosocial, single nucleotide polymorphism, uptake, anzsrc-for: 0604 Genetics, anzsrc-for: 1103 Clinical Sciences

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_63358Test; https://unsworks.unsw.edu.au/bitstreams/51c4580a-23ca-47e9-949e-2e89e1dd8540/downloadTest; https://doi.org/10.1111/cge.13687Test

الإتاحة: https://doi.org/10.1111/cge.13687Test
http://hdl.handle.net/1959.4/unsworks_63358Test
https://unsworks.unsw.edu.au/bitstreams/51c4580a-23ca-47e9-949e-2e89e1dd8540/downloadTest

المؤلفون: Mikropoulos, C, Hutten Selkirk, CG, Saya, S, Bancroft, E, Vertosick, E, Dadaev, T, Brendler, C, Page, E, Dias, A, Evans, DG, Rothwell, J, Maehle, L, Axcrona, K, Richardson, K, Eccles, D, Jensen, T, Osther, PJ, van Asperen, CJ, Vasen, H, Kiemeney, LA, Ringelberg, J, Cybulski, C, Wokolorczyk, D, Hart, R, Glover, W, Lam, J, Taylor, L, Salinas, M, Feliubadaló, L, Oldenburg, R, Cremers, R, Verhaegh, G, van Zelst-Stams, WA, Oosterwijk, JC, Cook, J, Rosario, DJ, Buys, SS, Conner, T, Domchek, S, Powers, J, Ausems, MGEM, Teixeira, MR, Maia, S, Izatt, L, Schmutzler, R, Rhiem, K, Foulkes, WD, Boshari, T, Davidson, R, Ruijs, M, Helderman-van den Enden, ATJM, Andrews, L, Walker, L, Snape, K, Henderson, A, Jobson, I, Lindeman, GJ, Liljegren, A, Harris, M, Adank, MA, Kirk, J, Taylor, A, Susman, R, Chen-Shtoyerman, R, Pachter, N, Spigelman, A, Side, L, Zgajnar, J, Mora, J, Brewer, C, Gadea, N, Brady, AF, Gallagher, D, van Os, T, Donaldson, A, Stefansdottir, V, Barwell, J, James, PA, Murphy, D, Friedman, E, Nicolai, N, Greenhalgh, L, Obeid, E, Murthy, V, Copakova, L, McGrath, J, Teo, S-H, Strom, S, Kast, K, Leongamornlert, DA, Chamberlain, A, Pope, J, Newlin, AC, Aaronson, N, Ardern-Jones, A, Bangma, C, Castro, E, Dearnaley, D, Eyfjord, J, Falconer, A, Foster, CS, Gronberg, H, Hamdy, FC, Johannsson, O, Khoo, V, Lubinski, J, Grindedal, EM, McKinley, J, Shackleton, K, Mitra, AV, Moynihan, C, Rennert, G, Suri, M, Tricker, K, IMPACT study collaborators, Moss, S, Kote-Jarai, Z, Vickers, A, Lilja, H, Helfand, BT, Eeles, RA

المساهمون: Dearnaley, David, Kote-Jarai, Zsofia, Eeles, Rosalind

مصطلحات موضوعية: IMPACT study collaborators, Humans, Prostatic Neoplasms, Genetic Predisposition to Disease, Kallikreins, Prostate-Specific Antigen, BRCA1 Protein, BRCA2 Protein, Logistic Models, Germ-Line Mutation, Adult, Aged, Middle Aged, Male, Early Detection of Cancer, Neoplasm Grading

وصف الملف: Print-Electronic; 276; application/pdf

العلاقة: British journal of cancer, 2018, 118 (2), pp. 266 - 276; https://repository.icr.ac.uk/handle/internal/993Test

الإتاحة: https://doi.org/10.1038/bjc.2017.429Test
https://repository.icr.ac.uk/handle/internal/993Test

المؤلفون: Eratne, D, Schneider, A, Lynch, E, Martyn, M, Velakoulis, D, Fahey, M, Kwan, P, Leventer, R, Rafehi, H, Chong, B, Stark, Z, Lunke, S, Phelan, DG, O'Keefe, M, Siemering, K, West, K, Sexton, A, Jarmolowicz, A, Taylor, JA, Schultz, J, Purvis, R, Uebergang, E, Chalinor, H, Creighton, B, Gelfand, N, Saks, T, Prawer, Y, Smagarinsky, Y, Pan, T, Goranitis, I, Ademi, Z, Gaff, C, Huq, A, Walsh, M, James, PA, Krzesinski, EI, Wallis, M, Stutterd, CA, Bahlo, M, Delatycki, MB, Berkovic, SF

مصطلحات موضوعية: 1103 Clinical Sciences, 1109 Neurosciences, Neurology & Neurosurgery, Adolescent, Adult, Aged, Australia, Child, Computational Biology, Exome, Female, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Phenotype, Prospective Studies, Young Adult

وصف الملف: Print-Electronic; application/pdf

العلاقة: Journal of Neurological Sciences; Journal of Neurological Sciences, 2021, 420, pp. 1-8; http://hdl.handle.net/10453/154663Test

الإتاحة: http://hdl.handle.net/10453/154663Test

المؤلفون: Easton, DF, Lesueur, F, Decker, B, Michailidou, K, Li, J, Allen, J, Luccarini, C, Pooley, KA, Shah, M, Bolla, MK, Wang, Q, Dennis, J, Ahmad, J, Thompson, ER, Damiola, F, Pertesi, M, Voegele, C, Mebirouk, N, Robinot, N, Durand, G, Forey, N, Luben, RN, Ahmed, S, Aittomäki, K, Anton-Culver, H, Arndt, V, Australian Ovarian Cancer Study Group, Baynes, C, Beckman, MW, Benitez, J, Van Den Berg, D, Blot, WJ, Bogdanova, NV, Bojesen, SE, Brenner, H, Chang-Claude, J, Chia, KS, Choi, J-Y, Conroy, DM, Cox, A, Cross, SS, Czene, K, Darabi, H, Devilee, P, Eriksson, M, Fasching, PA, Figueroa, J, Flyger, H, Fostira, F, García-Closas, M, Giles, GG, Glendon, G, González-Neira, A, Guénel, P, Haiman, CA, Hall, P, Hart, SN, Hartman, M, Hooning, MJ, Hsiung, C-N, Ito, H, Jakubowska, A, James, PA, John, EM, Johnson, N, Jones, M, Kabisch, M, Kang, D, kConFab Investigators, Kosma, V-M, Kristensen, V, Lambrechts, D, Li, N, Lifepool Investigators, Lindblom, A, Long, J, Lophatananon, A, Lubinski, J, Mannermaa, A, Manoukian, S, Margolin, S, Matsuo, K, Meindl, A, Mitchell, G, Muir, K, NBCS Investigators, Nevelsteen, I, van den Ouweland, A, Peterlongo, P, Phuah, SY, Pylkäs, K, Rowley, SM, Sangrajrang, S, Schmutzler, RK, Shen, C-Y, Shu, X-O, Southey, MC, Surowy, H, Swerdlow, A, Teo, SH, Tollenaar, RAEM, Tomlinson, I, Torres, D, Truong, T, Vachon, C, Verhoef, S, Wong-Brown, M, Zheng, W, Zheng, Y, Nevanlinna, H, Scott, RJ, Andrulis, IL, Wu, AH, Hopper, JL, Couch, FJ, Winqvist, R, Burwinkel, B, Sawyer, EJ, Schmidt, MK, Rudolph, A, Dörk, T, Brauch, H, Hamann, U, Neuhausen, SL, Milne, RL, Fletcher, O, Pharoah, PDP, Campbell, IG, Dunning, AM, Le Calvez-Kelm, F, Goldgar, DE, Tavtigian, SV, Chenevix-Trench, G

المساهمون: Jones, Michael, Swerdlow, Anthony, Fletcher, Olivia

مصطلحات موضوعية: Australian Ovarian Cancer Study Group, kConFab Investigators, Lifepool Investigators, NBCS Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, RNA Helicases, DNA-Binding Proteins, Risk, Cohort Studies, Mutation, Adult, Aged, Middle Aged, European Continental Ancestry Group, Female, Fanconi Anemia Complementation Group Proteins, Genetic Association Studies

وصف الملف: Print-Electronic; 309; application/pdf

العلاقة: Journal of medical genetics, 2016, 53 (5), pp. 298 - 309; https://repository.icr.ac.uk/handle/internal/3283Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2015-103529Test
https://repository.icr.ac.uk/handle/internal/3283Test

المؤلفون: Amor, DJ, Tan, TY, Collins, A, James, PA, Mcgillivray, G, Stark, Z, Gordon, CT, Leventer, RJ, Pope, K, Forbes, R, Crolla, JA, Ganesamoorthy, D, Burgess, T, Bruno, DL, Slater, HR, Farlie, PG

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Chromosomes, Human, Pair 22 - Genetics, Dna Copy Number Variations - Genetics, Female, Genetic Association Studies, Goldenhar Syndrome - Genetics, Humans, Infant, Newborn, Male, Phenotype, Repetitive Sequences, Nucleic Acid - Genetics, Young Adult

العلاقة: American Journal of Medical Genetics, Part A; http://www.scopus.com/mlt/select.url?eid=2-s2.0-79959534034&selection=ref&src=s&origin=recordpageTest; American Journal Of Medical Genetics, Part A, 2011, v. 155 n. 7, p. 1623-1633; 1633; WOS:000291944700020; eid_2-s2.0-79959534034; 1623; http://hdl.handle.net/10722/170452Test; 155

الإتاحة: https://doi.org/10.1002/ajmg.a.34051Test
http://hdl.handle.net/10722/170452Test