The Diagnostic Yield of Brugada Syndrome After Sudden Death With Normal Autopsy

Autor: Papadakis, Michael, Papatheodorou, Efstathios, Mellor, Greg, Raju, Hariharan, Bastiaenen, Rachel, Wijeyeratne, Yanushi, Wasim, Sara, Ensam, Bode, Finocchiaro, Gherardo, Gray, Belinda, Malhotra, Aneil, D’Silva, Andrew, Edwards, Nina, Cole, Della, Attard, Virginia, Batchvarov, Velislav N., Tome-Esteban, Maria, Homfray, Tessa, Sheppard, Mary N., Sharma, Sanjay, Behr, Elijah R.

Publikováno v: In Journal of the American College of Cardiology 20 March 2018 71(11):1204-1214

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Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Autor: Gaudet, Mia M., Kuchenbaecker, Karoline B., Vijai, Joseph, Klein, Robert J., Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M., Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M., Pankratz, Vernon S., Wang, Xianshu, Eldridge, Ronald C., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B.L., Peock, Susan, Stoppa-Lyonnet, Dominique, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Peterlongo, Paolo, Schmutzler, Rita K., Nathanson, Katherine L., Piedmonte, Marion, Singer, Christian F., Thomassen, Mads, Sokolowska, Johanna, Bronner, Myriam, Hansen, Thomas V.O., Neuhausen, Susan L., Blanco, Ignacio, Greene, Mark H., Garber, Judith, Weitzel, Jeffrey N., Andrulis, Irene L., Goldgar, David E., D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J., Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M.W., van der Hout, Annemarie H., Kets, Carolien M., Aalfs, Cora M., Wijnen, Juul T., Ausems, Margreet G.E.M., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary, Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B., Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M., Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L., Benitez, Javier, Southey, Melissa C., Schmidt, M. K., Fasching, Peter A., Peto, Julian, Humphreys, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E., Milne, Roger L., Brenner, Hermann, Lochmann, Magdalena, Brauch, Hiltrud, Ko, Yon Dschun, Baisch, Christian, Fischer, Hand Peter, Bruening, Thomas, Pesch, Beate, Rabstein, Sylvia, Spickenheuer, Anne, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Mannermaa, Arto, Lambrechts, Diether, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G., Haiman, Christopher A., Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Hooning, M. J., Cox, Angela, Pharoah, Paul D.P., Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Hall, Per, Couch, Fergus J., Simard, Jacques, Altshuler, David, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Offit, Kenneth, Rookus, M. A., van Leeuwen, F. E., Verhoef, S., de Lange, J. L., Collée, J. M., Seynaeve, C., van Deurzen, C. H.M., van Asperen, C. J., Tollenaar, R. A., Devilee, P., van Cronenburg, T. C.T.E.F., Mensenkamp, A. R., van der Luijt, R. B., van Os, T. A.M., Gille, J. J.P., Waisfisz, Q., Meijers-Heijboer, H. E.J., Gómez-Garcia, E. B., Blok, M. J., Oosterwijk, J. C., Mourits, M. J., de Bock, G. H., Vasen, H. F., Miedzybrodzka, Zosia, Gregory, Helen, Morrison, Patrick, Jeffers, Lisa, Cole, Trevor, Ong, Kai ren, Hoffman, Jonathan, Donaldson, Alan, James, Margaret, Paterson, Joan, Taylor, Amy, Murray, Alexandra, Rogers, Mark T., McCann, Emma, Kennedy, M. John, Barton, David, Drummond, Sarah, Brewer, Carole, Kivuva, Emma, Searle, Anne, Goodman, Selina, Hill, Kathryn, Davidson, Rosemarie, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah, Haque, Eshika, Tobias, Ed, Duncan, Alexis, Izatt, Louise, Langman, Caroline, Brady, Angela, Dorkins, Huw, Melville, Athalie, Randhawa, Kashmir, Barwell, Julian, Serra-Feliu, Gemma, Ellis, Ian, Houghton, Catherine, Lalloo, Fiona, Taylor, Jane, Side, Lucy, Male, Alison, Berlin, Cheryl, Eason, Jacqueline, Douglas, Fiona, Claber, Oonagh, Collier, Rebecca, Jobson, Irene, Walker, Lisa, McLeod, Diane, Durell, Sarah, Stayner, Barbara, Eeles, Rosalind A., Shanley, Susan, Rahman, Nazneen, Houlston, Richard, Bancroft, Elizabeth, Page, Elizabeth, Ardern-Jones, Audrey, Kohut, Kelly, Wiggins, Jennifer, Castro, Elena, Killick, Emma, Martin, Sue, Rea, Gillian, Kulkarni, Anjana, Cook, Jackie, Quarrell, Oliver, Bardsley, Cathryn, Hodgson, Shirley, Goff, Sheila, Brice, Glen, Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha, Attard, Virginia, Lehmann, Anna, Eccles, Diana, Lucassen, Anneke, Crawford, Gillian, McBride, Donna, Smalley, Sarah, Sinilnikova, Olga, Verny-Pierre, Carole, Giraud, Sophie, Léone, Mélanie, Gauthier-Villars, Marion, Buecher, Bruno, Houdayer, Claude, Moncoutier, Virginie, Tirapo, Carole, de Pauw, Antoine, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Bignon, Yves Jean, Uhrhammer, Nancy, Lasset, Christine, Bonadona, Valérie, Handallou, Sandrine, Hardouin, Agnés, Berthet, Pascaline, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Coupier, Isabelle, Pujol, Pascal, Peyrat, Jean Philippe, Fournier, Joëlle, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Rouleau, Etienne, Lidereau, Rosette, Demange, Liliane, Nogues, Catherine, Muller, Danièle, Fricker, Jean Pierre, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Dreyfus, Hélène, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Frénay, Marc, Vénat-Bouvet, Laurence, Delnatte, Capucine, Mortemousque, Isabelle, Lynch, Henry T., Snyder, Carrie L.

Publikováno v: Plos Genetics, 9, 3, pp. e1003173
Plos Genetics, 9, e1003173
Gaudet, M M, Kuchenbaecker, K B, Vijai, J, Klein, R J, Kirchhoff, T, McGuffog, L, Barrowdale, D, Dunning, A M, Lee, A R, Dennis, J, Healey, S, Dicks, E, Soucy, P, Sinilnikova, O M, Pankratz, V S, Wang, X, Eldridge, R C, Tessier, D C, Vincent, D, Bacot, F, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Peterlongo, P, Schmutzler, R K, Nathanson, K L, Piedmonte, M, Singer, C F, Thomassen, M, Hansen, T V O, Neuhausen, S L, Blanco, I, Greene, M H, Garber, J, Weitzel, J N, Andrulis, I L, Goldgar, D E, D'Andrea, E, Caldes, T, Nevanlinna, H, Osorio, A, van Rensburg, E J, Arason, A, Rennert, G, van den Ouweland, A M W, van der Hout, A H, Kets, C M, Aalfs, C M, Wijnen, J T, Ausems, M G E M & kConFab Investigators 2013, ' Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk ', P L o S Genetics, vol. 9, no. 3, e1003173 . https://doi.org/10.1371/journal.pgen.1003173
Dipòsit Digital de la UB
Universidad de Barcelona
Gaudet, M M, Kuchenbaecker, K B, Vijai, J, Klein, R J, Kirchhoff, T, McGuffog, L, Barrowdale, D, Dunning, A M, Lee, A R, Dennis, J, Healey, S, Dicks, E, Soucy, P, Sinilnikova, O M, Pankratz, V S, Wang, X, Eldridge, R C, Tessier, D C, Vincent, D, Bacot, F, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Peterlongo, P, Schmutzler, R K, Nathanson, K L, Piedmonte, M, Singer, C F, Thomassen, M, Hansen, T V O, Neuhausen, S L, Blanco, I, Greene, M H, Garber, J, Weitzel, J N, Andrulis, I L, Goldgar, D E, D'Andrea, E, Caldes, T, Nevanlinna, H, Osorio, A, van Rensburg, E J, Arason, A, Rennert, G, van den Ouweland, A M W, van der Hout, A H, Kets, C M, Aalfs, C M, Wijnen, J T, Jensen, U B & KConFab Investigators 2013, ' Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk ', PLoS genetics, vol. 9, no. 3, pp. e1003173 . https://doi.org/10.1371/journal.pgen.1003173
Gaudet, M M, Kuchenbaecker, K B, Vijai, J, Klein, R J, Kirchhoff, T, McGuffog, L, Barrowdale, D, Dunning, A M, Lee, A, Dennis, J, Healey, S, Dicks, E, Soucy, P, Sinilnikova, O M, Pankratz, V S, Wang, X, Eldridge, R C, Tessier, D C, Vincent, D, Bacot, F, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Coulet, F, Colas, C, Soubrier, F, Peterlongo, P, Schmutzler, R K, Nathanson, K L, Piedmonte, M, Singer, C F, Thomassen, M, Sokolowska, J, Bronner, M, Hansen, T V O, Neuhausen, S L, Blanco, I, Greene, M H, Garber, J, Weitzel, J N, Andrulis, I L, Goldgar, D E, D'Andrea, E, Caldes, T, Nevanlinna, H, Osorio, A, van Rensburg, E J, Arason, A, Rennert, G, van den Ouweland, A M W, van der Hout, A H, Kets, C M, Aalfs, C M, Wijnen, J T, Ausems, M G E M, Frost, D, Ellis, S, Fineberg, E, Platte, R, Evans, D G, Jacobs, C, Adlard, J, Tischkowitz, M, Porteous, M, Damiola, F, Golmard, L, Barjhoux, L, Longy, M, Belotti, M, Ferrer, S F, Mazoyer, S, Spurdle, A B, Manoukian, S, Barile, M, Genuardi, M, Arnold, N, Meindl, A, Sutter, C, Wappenschmidt, B, Domchek, S M, Pfeiler, G, Friedman, E, Jensen, U B, Robson, M, Shah, S, Lazaro, C, Mai, P L, Benitez, J, Southey, M C, Schmidt, M K, Fasching, P A, Peto, J, Humphreys, M K, Wang, Q, Michailidou, K, Sawyer, E J, Burwinkel, B, Guénel, P, Bojesen, S E, Milne, R L, Brenner, H, Lochmann, M, Brauch, H, Ko, Y D, Baisch, C, Fischer, H P, Bruening, T, Pesch, B, Rabstein, S, Spickenheuer, A, Aittomäki, K, Dörk, T, Margolin, S, Mannermaa, A, Lambrechts, D, Chang-Claude, J, Radice, P, Giles, G G, Haiman, C A, Winqvist, R, Devillee, P, García-Closas, M, Schoof, N, Hooning, M J, Cox, A, Pharoah, P D P, Jakubowska, A, Orr, N, González-Neira, A, Pita, G, Alonso, M R, Hall, P, Couch, F J, Simard, J, Altshuler, D, Easton, D F, Chenevix-Trench, G, Antoniou, A C, Offit, K, Rookus, M A, van Leeuwen, F E, Verhoef, S, de Lange, J L, Collée, J M, Seynaeve, C, van Deurzen, C H M, van Asperen, C J, Tollenaar, R A, Devilee, P, van Cronenburg, T C T E F, Mensenkamp, A R, van der Luijt, R B, van Os, T A M, Gille, J J P, Waisfisz, Q, Meijers-Heijboer, H E J, Gómez-Garcia, E B, Blok, M J, Oosterwijk, J C, Mourits, M J, de Bock, G H, Vasen, H F, Miedzybrodzka, Z, Gregory, H, Morrison, P, Jeffers, L, Cole, T, Ong, K R, Hoffman, J, Donaldson, A, James, M, Paterson, J, Taylor, A, Murray, A, Rogers, M T, McCann, E, Kennedy, M J, Barton, D, Porteous, M, Drummond, S, Brewer, C, Kivuva, E, Searle, A, Goodman, S, Hill, K, Davidson, R, Murday, V, Bradshaw, N, Snadden, L, Longmuir, M, Watt, C, Gibson, S, Haque, E, Tobias, E, Duncan, A, Izatt, L, Langman, C, Brady, A, Dorkins, H, Melville, A, Randhawa, K, Barwell, J, Serra-Feliu, G, Ellis, I, Houghton, C, Lalloo, F, Taylor, J, Side, L, Male, A, Berlin, C, Eason, J, Douglas, F, Claber, O, Collier, R, Jobson, I, Walker, L, McLeod, D, Durell, S, Stayner, B, Eeles, R A, Shanley, S, Rahman, N, Houlston, R, Bancroft, E, Page, E, Ardern-Jones, A, Kohut, K, Wiggins, J, Castro, E, Killick, E, Martin, S, Rea, G, Kulkarni, A, Cook, J, Quarrell, O, Bardsley, C, Hodgson, S, Goff, S, Brice, G, Winchester, L, Eddy, C, Tripathi, V, Attard, V, Lehmann, A, Eccles, D, Lucassen, A, Crawford, G, McBride, D, Smalley, S, Sinilnikova, O, Verny-Pierre, C, Giraud, S, Léone, M, Gauthier-Villars, M, Buecher, B, Houdayer, C, Moncoutier, V, Tirapo, C, de Pauw, A, Bressac-de-Paillerets, B, Caron, O, Bignon, Y J, Uhrhammer, N, Lasset, C, Bonadona, V, Handallou, S, Hardouin, A, Berthet, P, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Coupier, I, Pujol, P, Peyrat, J P, Fournier, J, Révillion, F, Vennin, P, Adenis, C, Rouleau, E, Lidereau, R, Demange, L, Nogues, C, Muller, D, Fricker, J P, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Dreyfus, H, Rebischung, C, Peysselon, M, Coron, F, Faivre, L, Prieur, F, Lebrun, M, Kientz, C, Frénay, M, Vénat-Bouvet, L, Delnatte, C, Mortemousque, I, Lynch, H T, Snyder, C L, EMBRACE, HEBON, GENICA Network, GEMO Study, KConFab Investigators & Ontario Cancer Genetics Network 2013, ' Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk ', PLoS Genetics, vol. 9, no. 3, e1003173 . https://doi.org/10.1371/journal.pgen.1003173
PLoS Genetics; Vol 9
PLoS Genetics, 9(3)
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS Genetics (print), 9(3). Public Library of Science
PLoS Genetics
PLoS genetics, 9(3). Public Library of Science
PLoS Genetics, 9(3):e1003173. Public Library of Science
PLoS genetics, 9(3). PUBLIC LIBRARY SCIENCE
PLoS Genetics, Vol 9, Iss 3, p e1003173 (2013)

Contains fulltext : 118578.pdf (Publisher’s version ) (Open Access) Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be8bbb324fd27ffcb52b62a1a013638c
https://hdl.handle.net/2066/118578

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Role of the electrocardiogram in differentiating genetically determined dilated cardiomyopathy from athlete's heart

Autor: Denise Zaffalon, Efstathios Papatheodorou, Ahmed Merghani, Harshil Dhutia, Eleonora Moccia, Aneil Malhotra, Christopher J. Miles, Virginia Attard, Tessa Homfray, Rajan Sharma, Marta Gigli, Matteo Dal Ferro, Marco Merlo, Michael Papadakis, Gianfranco Sinagra, Sanjay Sharma, Gherardo Finocchiaro

Publikováno v: European journal of clinical investigationREFERENCES. 52(10)

Background: Physiological cardiac remodelling in highly trained athletes may overlap with dilated cardiomyopathy (DCM). Objectives: The aim of this study was to investigate the role of the electrocardiogram (ECG) in differentiating between physiologi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a3851b9c842a2fcd3574df8da12be0a
https://pubmed.ncbi.nlm.nih.gov/35917223