المؤلفون: Hakkaart, Christopher, Pearson, John F, Marquart, Louise, Dennis, Joe, Wiggins, George AR, Barnes, Daniel R, Robinson, Bridget A, Mace, Peter D, Aittomäki, Kristiina, Andrulis, Irene L, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Belhadj, Sami, Berger, Lieke, Blok, Marinus J, Boonen, Susanne E, Borde, Julika, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caligo, Maria A, Campbell, Ian, Chung, Wendy K, Claes, Kathleen BM, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J, Daly, Mary B, Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F, Ehrencrona, Hans, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A, Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Hahnen, Eric, Hake, Christopher R, Hamann, Ute, Hansen, Thomas VO, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L, Manoukian, Siranoush, Mari, Véronique, Martens, John WM, McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco

المصدر: Communications Biology. 5(1)

مصطلحات موضوعية: Human Genome, Prevention, Breast Cancer, Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Heterozygote, Humans, RNA, Messenger, GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1jg0h48qTest

المؤلفون: Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R, Neuhausen, Susan L, Hopper, John L, Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T, Andrulis, Irene L, Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S, Caputo, Sandrine M, Chung, Wendy K, Colas, Chrystelle, Colonna, Sarah V, Cook, Jackie, Daly, Mary B, de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Fehm, Tanja N, Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E, Golmard, Lisa, Greene, Mark H, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M, Karlan, Beth Y, Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Yie, Joanne Ngeow Yuen, Niederacher, Dieter, Park, Sue K, Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K, Senter, Leigha, Shariff, Saba, Singer, Christian F, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Vega, Ana, Wagner, Sebastian A, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard HF, Yannoukakos, Drakoulis, Spurdle, Amanda B, Easton, Douglas F, Chenevix-Trench, Georgia

المصدر: Journal of Clinical Oncology. 40(14)

مصطلحات موضوعية: Ovarian Cancer, Cancer, Urologic Diseases, Breast Cancer, Prevention, Digestive Diseases, Aging, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Newborn, Male, Mutation, Ovarian Neoplasms, Pancreatic Neoplasms, Risk, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/87h8h3x8Test

المؤلفون: Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F., Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D. Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C

المساهمون: Cancer Research UK, NIHR Cambridge BRC

المصدر: Journal of Medical Genetics ; page jmg-2024-109943 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2024-109943Test

المؤلفون: Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet GEM, Berthet, Pascaline, EMBRACE collaborators, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C

مصطلحات موضوعية: Early Diagnosis, Genetic Counseling, Public Health, Women's Health

وصف الملف: application/pdf; text/xml

العلاقة: https://www.repository.cam.ac.uk/handle/1810/369494Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/369494Test

المؤلفون: Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Hussein, Rana Ibnouf, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Alllen, Zoe, Perez-Becerril, Christina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H., Taylor, Jenny C.

وصف الملف: text; slideshow; spreadsheet

العلاقة: https://eprints.soton.ac.uk/490818/1/AJHG_INVERSION_MANUSCRIPT_V13.docxTest; https://eprints.soton.ac.uk/490818/2/AJHG_INVERSION_MANUSCRIPT_SUPPLEMENTARY_v7.pdfTest; https://eprints.soton.ac.uk/490818/3/Figure_1_results_overview_V2.pptxTest; https://eprints.soton.ac.uk/490818/4/Figure_2_RNA_V2.pptxTest; https://eprints.soton.ac.uk/490818/5/Figure_3_MSH2_Founder_V4.pptxTest; https://eprints.soton.ac.uk/490818/6/Figure_4_MECP2_ambiguous_V8.pptxTest; https://eprints.soton.ac.uk/490818/7/Figure_5_HOXD_odyssey_V3.pptxTest; https://eprints.soton.ac.uk/490818/8/Figure_6_APC_conundrumV5.pptxTest; https://eprints.soton.ac.uk/490818/9/Graphical_abstract_fifth_revision.pdfTest; https://eprints.soton.ac.uk/490818/10/TableS1_HI3genes_ClinGen.xlsxTest; https://eprints.soton.ac.uk/490818/11/TableS2_inversions_grouped_revision5.xlsxTest; Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Hussein, Rana Ibnouf, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Alllen, Zoe, Perez-Becerril, Christina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H. and Taylor, Jenny C. (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6), 1140-1164. (doi:10.1016/j.ajhg.2024.04.018 ).

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.04.018Test
https://eprints.soton.ac.uk/490818Test/
https://eprints.soton.ac.uk/490818/1/AJHG_INVERSION_MANUSCRIPT_V13.docxTest
https://eprints.soton.ac.uk/490818/2/AJHG_INVERSION_MANUSCRIPT_SUPPLEMENTARY_v7.pdfTest
https://eprints.soton.ac.uk/490818/3/Figure_1_results_overview_V2.pptxTest
https://eprints.soton.ac.uk/490818/4/Figure_2_RNA_V2.pptxTest
https://eprints.soton.ac.uk/490818/5/Figure_3_MSH2_Founder_V4.pptxTest
https://eprints.soton.ac.uk/490818/6/Figure_4_MECP2_ambiguous_V8.pptxTest
https://eprints.soton.ac.uk/490818/7/Figure_5_HOXD_odyssey_V3.pptxTest
https://eprints.soton.ac.uk/490818/8/Figure_6_APC_conundrumV5.pptxTest

المؤلفون: Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Lázaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J., Castellà, María, Hernández, Gonzalo, EMBRACE, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, kConFab, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst, Madeleine A., Vreeswijk, Maaike P., Asperen, Christi J., Bodmer, Danielle, Ausems, Margreet GEM, Van Os, Theo A., Blok, Marinus J., Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, HEBON, Goldgar, David E., Buys, Saundra, John, Esther M., Miron, Alexander, Southey, Melissa, Daly, Mary B., BCFR, SWE-BRCA, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Johannsson, Oskar Thor, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K., Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K., Imyanitov, Evgeny N., Janavicius, Ramunas, GEMO Study Collaborators, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, De Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M., Antoniou, Antonis C., Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, Pujana, Miguel Angel

مصطلحات موضوعية: Portador de mutacions, Anèmia de Fanconi, Portador de mutació BRCA2, BrCa, Ooforectomia profilàctica, Portador de mutación, Anemia de Fanconi, Portador de mutación BRCA2, Ooforectomía profiláctica, Mutation carrier, Fanconi anemia, BRCA2 mutation carrier, Prophylactic oophorectomy

الوقت: 61

وصف الملف: application/pdf

العلاقة: Breast Cancer Research; 13; Martrat, Griselda; Maxwell, Christopher A.; Tominaga, Emiko [et al.]. Exploring the link between MORF4L1 and risk of breast cancer. Breast Cancer Research, 2011, 13, R40. Disponible en: . Fecha de acceso: 23 ene. 2024. DOI:10.1186/bcr2862; http://hdl.handle.net/20.500.12328/3947Test; https://dx.doi.org/10.1186/bcr2862Test

الإتاحة: https://doi.org/20.500.12328/3947Test
https://doi.org/10.1186/bcr2862Test
https://hdl.handle.net/20.500.12328/3947Test

المؤلفون: Skinner, Eloise B., Childs, Marissa L., Thomas, Matthew B., Cook, Jackie, Sternberg, Eleanore D., Koffi, Alphonsine A., N’Guessan, Raphael, Wolie, Rosine Z., Oumbouke, Welbeck, Ahoua Alou, Ludovic P., Brice, Serge, Mordecai, Erin A.

المصدر: Frontiers in Malaria, Vol 2.

مصطلحات موضوعية: WA 530 International health administration, WA 546 Local Health Administration. Community Health Services, WC 750 Malaria

وصف الملف: text

العلاقة: https://archive.lstmed.ac.uk/24280/1/fmala-02-1338648.pdfTest; Skinner, Eloise B., Childs, Marissa L., Thomas, Matthew B., Cook, Jackie, Sternberg, Eleanore D., Koffi, Alphonsine A., N’Guessan, Raphael, Wolie, Rosine Z., Oumbouke, Welbeck, Ahoua Alou, Ludovic P., Brice, Serge and Mordecai, Erin A. (2024) 'Global malaria predictors at a localized scale'. Frontiers in Malaria, Vol 2.

الإتاحة: https://doi.org/10.3389/fmala.2024.1338648Test
https://archive.lstmed.ac.uk/24280Test/
https://archive.lstmed.ac.uk/24280/1/fmala-02-1338648.pdfTest

المؤلفون: Yovogan, Boulais, Sovi, Arthur, Djènontin, Armel, Adoha, Constantin J., Akinro, Bruno, Accrombessi, Manfred, Dangbénon, Edouard, Koukpo, Come Z., Affolabi, Zul-Kifl, Agboho, Prudenciène A., Kpanou, Casimir Dossou, Assongba, Landry, Missihoun, Antoine Abel, Tokponnon, Tatchémè Filémon, Agbangla, Clément, Padonou, Germain Gil, Messenger, Louisa A., Ngufor, Corine, Cook, Jackie, Akogbéto, Martin C., Protopopoff, Natacha

المصدر: Parasites & Vectors ; volume 17, issue 1 ; ISSN 1756-3305

مصطلحات موضوعية: Infectious Diseases, Parasitology, General Veterinary

الإتاحة: https://doi.org/10.1186/s13071-023-06104-5Test

المؤلفون: Accrombessi, Manfred, Cook, Jackie, Dangbenon, Edouard, Sovi, Arthur, Yovogan, Boulais, Assongba, Landry, Adoha, Constantin J, Akinro, Bruno, Affoukou, Cyriaque, Padonou, Germain Gil, Kleinschmidt, Immo, Messenger, Louisa A, Rowland, Mark, Ngufor, Corine, Akogbeto, Martin C, Protopopoff, Natacha

المساهمون: Global Fund to Fight AIDS Tuberculosis and Malaria

المصدر: The Lancet Infectious Diseases ; ISSN 1473-3099

مصطلحات موضوعية: Infectious Diseases

الإتاحة: https://doi.org/10.1016/s1473-3099Test(24)00002-1
https://api.elsevier.com/content/article/PII:S1473309924000021?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1473309924000021?httpAccept=text/plainTest

المؤلفون: Chan, YuYen, Fornace, Kimberly, Wu, Lindsey, Arnold, Benjamin F, Priest, Jeffrey W, Martin, Diana L, Chang, Michelle A, Cook, Jackie, Stresman, Gillian, Drakeley, Chris

المصدر: PLoS neglected tropical diseases. 15(6)

مصطلحات موضوعية: Biological Sciences, Medical and Health Sciences, Tropical Medicine

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1c40n8hjTest