The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Por Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Keng, Wee Teik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.
Publicado no Genet Med (2016)

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Por Weedon, Michael N., Ellard, Sian, Prindle, Marc J., Caswell, Richard, Allen, Hana Lango, Oram, Richard, Godbole, Koumudi, Yajnik, Chittaranjan S., Sbraccia, Paolo, Novelli, Giuseppe, Turnpenny, Peter, McCann, Emma, Goh, Kim Jee, Wang, Yukai, Fulford, Jonathan, McCulloch, Laura J., Savage, David B., O’Rahilly, Stephen, Kos, Katarina, Loeb, Lawrence A., Semple, Robert K., Hattersley, Andrew T.
Publicado em 2013

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

Por Huang-Doran, Isabel, Tomlinson, Patsy, Payne, Felicity, Gast, Alexandra, Sleigh, Alison, Bottomley, William, Harris, Julie, Daly, Allan, Rocha, Nuno, Rudge, Simon, Clark, Jonathan, Kwok, Albert, Romeo, Stefano, McCann, Emma, Müksch, Barbara, Dattani, Mehul, Zucchini, Stefano, Wakelam, Michael, Foukas, Lazaros C., Savage, David B., Murphy, Rinki, O’Rahilly, Stephen, Barroso, Inês, Semple, Robert K.
Publicado no JCI Insight (2016)

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

Por Fry, Andrew E., Rees, Elliott, Thompson, Rose, Mantripragada, Kiran, Blake, Penny, Jones, Glyn, Morgan, Sian, Jose, Sian, Mugalaasi, Hood, Archer, Hayley, McCann, Emma, Clarke, Angus, Taylor, Clare, Davies, Sally, Gibbon, Frances, Te Water Naude, Johann, Hartley, Louise, Thomas, Gareth, White, Catharine, Natarajan, Jaya, Thomas, Rhys H., Drew, Cheney, Chung, Seo-Kyung, Rees, Mark I., Holmans, Peter, Owen, Michael J., Kirov, George, Pilz, Daniela T., Kerr, Michael P.
Publicado no BMC Med Genet (2016)

Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status

Por Pooley, Karen A., McGuffog, Lesley, Barrowdale, Daniel, Frost, Debra, Ellis, Steve D., Platte, Radka, Fineberg, Elena, Izatt, Louise, Adlard, Julian, Bardwell, Julian, Brewer, Carole, Cole, Trevor, Cook, Jackie, Davidson, Rosemary, Donaldson, Alan, Dorkins, Huw, Douglas, Fiona, Eason, Jacqueline, Houghton, Catherine, Kennedy, M. John, McCann, Emma, Miedzybrobzka, Zosia, Murray, Alex, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Tischkowitz, Marc, Walker, Lisa, Hodgson, Shirley, Eccles, Diana M., Morrison, Patrick J., Evans, D. Gareth, Eeles, Rosalind A., Antoniou, Antonis C., Easton, Douglas F., Dunning, Alison M.
Publicado no Cancer Epidemiol Biomarkers Prev (2014)

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Por Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, Raoul C. M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.
Publicado em 2005

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of B...

Por Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas vO, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Muñoz-Repeto, Iván, Durán, Mercedes, Godino, Javier, Pertesi, Maroulio, Benítez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez García, Encarna B, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine MA, van der Luijt, Rob B, Os, Theo van, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, Side, Lucy E, McCann, Emma, Murray, Alex, Peock, Susan, Godwin, Andrew K, Schmutzler, Rita K, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schäfer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, François, Mazoyer, Sylvie, Léoné, Mélanie, Boutry-Kryza, Nadia, Hardouin, Agnès, Berthet, Pascaline, Muller, Danièle, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomäki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, Barkardottir, Rosa B, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, D'Andrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, Olopade, Olufunmilayo I, Weitzel, Jeffrey N, Lynch, Henry T, Ganz, Patricia A, Tomlinson, Gail E, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, Singer, Christian F, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Mai, Phuong L, Greene, Mark H, Imyanitov, Evgeny, O'Malley, Frances P, Ozcelik, Hilmi, Glendon, Gordon, Toland, Amanda E, Gerdes, Anne-Marie, Thomassen, Mads, Kruse, Torben A, Jensen, Uffe Birk, Skytte, Anne-Bine, Caligo, Maria A, Soller, Maria, Henriksson, Karin, Wachenfeldt, von Anna, Arver, Brita, Stenmark-Askmalm, Marie, Karlsson, Per, Ding, Yuan Chun, Neuhausen, Susan L, Beattie, Mary, Pharoah, Paul DP, Moysich, Kirsten B, Nathanson, Katherine L, Karlan, Beth Y, Gross, Jenny, John, Esther M, Daly, Mary B, Buys, Saundra M, Southey, Melissa C, Hopper, John L, Terry, Mary Beth, Chung, Wendy, Miron, Alexander F, Goldgar, David, Chenevix-Trench, Georgia, Easton, Douglas F, Andrulis, Irene L, Antoniou, Antonis C
Publicado em 2011

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

Por Blanco, Ignacio, Kuchenbaecker, Karoline, Cuadras, Daniel, Wang, Xianshu, Barrowdale, Daniel, de Garibay, Gorka Ruiz, Librado, Pablo, Sánchez-Gracia, Alejandro, Rozas, Julio, Bonifaci, Núria, McGuffog, Lesley, Pankratz, Vernon S., Islam, Abul, Mateo, Francesca, Berenguer, Antoni, Petit, Anna, Català, Isabel, Brunet, Joan, Feliubadaló, Lidia, Tornero, Eva, Benítez, Javier, Osorio, Ana, Cajal, Teresa Ramón y, Nevanlinna, Heli, Aittomäki, Kristiina, Arun, Banu K., Toland, Amanda E., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Greene, Mark H., Mai, Phuong L., Nussbaum, Robert L., Andrulis, Irene L., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Barkardottir, Rosa B., Jakubowska, Anna, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Claes, Kathleen, Van Maerken, Tom, Díez, Orland, Hansen, Thomas V., Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, de la Hoya, Miguel, Caldés, Trinidad, Dunning, Alison M., Oliver, Clare, Fineberg, Elena, Cook, Margaret, Peock, Susan, McCann, Emma, Murray, Alex, Jacobs, Chris, Pichert, Gabriella, Lalloo, Fiona, Chu, Carol, Dorkins, Huw, Paterson, Joan, Ong, Kai-Ren, Teixeira, Manuel R., Hogervorst, Frans B. L., van der Hout, Annemarie H., Seynaeve, Caroline, van der Luijt, Rob B., Ligtenberg, Marjolijn J. L., Devilee, Peter, Wijnen, Juul T., Rookus, Matti A., Meijers-Heijboer, Hanne E. J., Blok, Marinus J., van den Ouweland, Ans M. W., Aalfs, Cora M., Rodriguez, Gustavo C., Phillips, Kelly-Anne A., Piedmonte, Marion, Nerenstone, Stacy R., Bae-Jump, Victoria L., O'Malley, David M., Ratner, Elena S., Schmutzler, Rita K., Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg J., Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Bojesen, Anders, Pedersen, Inge Sokilde, Sunde, Lone, Jensen, Uffe Birk, Thomassen, Mads, Kruse, Torben A., Foretova, Lenka, Peterlongo, Paolo, Bernard, Loris, Peissel, Bernard, Scuvera, Giulietta, Manoukian, Siranoush, Radice, Paolo, Ottini, Laura, Montagna, Marco, Agata, Simona, Maugard, Christine, Simard, Jacques, Soucy, Penny, Berger, Andreas, Fink-Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Geschwantler-Kaulich, Daphne, Tea, Muy-Kheng, Pfeiler, Georg, John, Esther M., Miron, Alex, Neuhausen, Susan L., Terry, Mary Beth, Chung, Wendy K., Daly, Mary B., Goldgar, David E., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elisabeth J., Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Godwin, Andrew K., Olah, Edith, Narod, Steven A., Rennert, Gad, Paluch, Shani Shimon, Laitman, Yael, Friedman, Eitan, Liljegren, Annelie, Rantala, Johanna, Stenmark-Askmalm, Marie, Loman, Niklas, Imyanitov, Evgeny N., Hamann, Ute, Spurdle, Amanda B., Healey, Sue, Weitzel, Jeffrey N., Herzog, Josef, Margileth, David, Gorrini, Chiara, Esteller, Manel, Gómez, Antonio, Sayols, Sergi, Vidal, Enrique, Heyn, Holger, Stoppa-Lyonnet, Dominique, Léoné, Melanie, Barjhoux, Laure, Fassy-Colcombet, Marion, de Pauw, Antoine, Lasset, Christine, Ferrer, Sandra Fert, Castera, Laurent, Berthet, Pascaline, Cornelis, François, Bignon, Yves-Jean, Damiola, Francesca, Mazoyer, Sylvie, Sinilnikova, Olga M., Maxwell, Christopher A., Vijai, Joseph, Robson, Mark, Kauff, Noah, Corines, Marina J., Villano, Danylko, Cunningham, Julie, Lee, Adam, Lindor, Noralane, Lázaro, Conxi, Easton, Douglas F., Offit, Kenneth, Chenevix-Trench, Georgia, Couch, Fergus J., Antoniou, Antonis C., Pujana, Miguel Angel
Publicado no PLoS One (2015)

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Por Couch, Fergus J., Wang, Xianshu, McGuffog, Lesley, Lee, Andrew, Olswold, Curtis, Kuchenbaecker, Karoline B., Soucy, Penny, Fredericksen, Zachary, Barrowdale, Daniel, Dennis, Joe, Gaudet, Mia M., Dicks, Ed, Kosel, Matthew, Healey, Sue, Sinilnikova, Olga M., Lee, Adam, Bacot, François, Vincent, Daniel, Hogervorst, Frans B. L., Peock, Susan, Stoppa-Lyonnet, Dominique, Jakubowska, Anna, Investigators, kConFab, Radice, Paolo, Schmutzler, Rita Katharina, Domchek, Susan M., Piedmonte, Marion, Singer, Christian F., Friedman, Eitan, Thomassen, Mads, Hansen, Thomas V. O., Neuhausen, Susan L., Szabo, Csilla I., Blanco, Ignacio, Greene, Mark H., Karlan, Beth Y., Garber, Judy, Phelan, Catherine M., Weitzel, Jeffrey N., Montagna, Marco, Olah, Edith, Andrulis, Irene L., Godwin, Andrew K., Yannoukakos, Drakoulis, Goldgar, David E., Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, Terry, Mary Beth, Daly, Mary B., van Rensburg, Elizabeth J., Hamann, Ute, Ramus, Susan J., Ewart Toland, Amanda, Caligo, Maria A., Olopade, Olufunmilayo I., Tung, Nadine, Claes, Kathleen, Beattie, Mary S., Southey, Melissa C., Imyanitov, Evgeny N., Tischkowitz, Marc, Janavicius, Ramunas, John, Esther M., Kwong, Ava, Diez, Orland, Balmaña, Judith, Barkardottir, Rosa B., Arun, Banu K., Rennert, Gad, Teo, Soo-Hwang, Ganz, Patricia A., Campbell, Ian, van der Hout, Annemarie H., van Deurzen, Carolien H. M., Seynaeve, Caroline, Gómez Garcia, Encarna B., van Leeuwen, Flora E., Meijers-Heijboer, Hanne E. J., Gille, Johannes J. P., Ausems, Margreet G. E. M., Blok, Marinus J., Ligtenberg, Marjolijn J. L., Rookus, Matti A., Devilee, Peter, Verhoef, Senno, van Os, Theo A. M., Wijnen, Juul T., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Izatt, Louise, Eeles, Rosalind A., Adlard, Julian, Eccles, Diana M., Cook, Jackie, Brewer, Carole, Douglas, Fiona, Hodgson, Shirley, Morrison, Patrick J., Side, Lucy E., Donaldson, Alan, Houghton, Catherine, Rogers, Mark T., Dorkins, Huw, Eason, Jacqueline, Gregory, Helen, McCann, Emma, Murray, Alex, Calender, Alain, Hardouin, Agnès, Berthet, Pascaline, Delnatte, Capucine, Nogues, Catherine, Lasset, Christine, Houdayer, Claude, Leroux, Dominique, Rouleau, Etienne, Prieur, Fabienne, Damiola, Francesca, Sobol, Hagay, Coupier, Isabelle, Venat-Bouvet, Laurence, Castera, Laurent, Gauthier-Villars, Marion, Léoné, Mélanie, Pujol, Pascal, Mazoyer, Sylvie, Bignon, Yves-Jean, Złowocka-Perłowska, Elżbieta, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska, Katarzyna, Huzarski, Tomasz, Spurdle, Amanda B., Viel, Alessandra, Peissel, Bernard, Bonanni, Bernardo, Melloni, Giulia, Ottini, Laura, Papi, Laura, Varesco, Liliana, Tibiletti, Maria Grazia, Peterlongo, Paolo, Volorio, Sara, Manoukian, Siranoush, Pensotti, Valeria, Arnold, Norbert, Engel, Christoph, Deissler, Helmut, Gadzicki, Dorothea, Gehrig, Andrea, Kast, Karin, Rhiem, Kerstin, Meindl, Alfons, Niederacher, Dieter, Ditsch, Nina, Plendl, Hansjoerg, Preisler-Adams, Sabine, Engert, Stefanie, Sutter, Christian, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Weber, Bernhard H. F., Arver, Brita, Stenmark-Askmalm, Marie, Loman, Niklas, Rosenquist, Richard, Einbeigi, Zakaria, Nathanson, Katherine L., Rebbeck, Timothy R., Blank, Stephanie V., Cohn, David E., Rodriguez, Gustavo C., Small, Laurie, Friedlander, Michael, Bae-Jump, Victoria L., Fink-Retter, Anneliese, Rappaport, Christine, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Lindor, Noralane M., Kaufman, Bella, Shimon Paluch, Shani, Laitman, Yael, Skytte, Anne-Bine, Gerdes, Anne-Marie, Pedersen, Inge Sokilde, Moeller, Sanne Traasdahl, Kruse, Torben A., Jensen, Uffe Birk, Vijai, Joseph, Sarrel, Kara, Robson, Mark, Kauff, Noah, Mulligan, Anna Marie, Glendon, Gord, Ozcelik, Hilmi, Ejlertsen, Bent, Nielsen, Finn C., Jønson, Lars, Andersen, Mette K., Ding, Yuan Chun, Steele, Linda, Foretova, Lenka, Teulé, Alex, Lazaro, Conxi, Brunet, Joan, Pujana, Miquel Angel, Mai, Phuong L., Loud, Jennifer T., Walsh, Christine, Lester, Jenny, Orsulic, Sandra, Narod, Steven A., Herzog, Josef, Sand, Sharon R., Tognazzo, Silvia, Agata, Simona, Vaszko, Tibor, Weaver, Joellen, Stavropoulou, Alexandra V., Buys, Saundra S., Romero, Atocha, de la Hoya, Miguel, Aittomäki, Kristiina, Muranen, Taru A., Duran, Mercedes, Chung, Wendy K., Lasa, Adriana, Dorfling, Cecilia M., Miron, Alexander, Benitez, Javier, Senter, Leigha, Huo, Dezheng, Chan, Salina B., Sokolenko, Anna P., Chiquette, Jocelyne, Tihomirova, Laima, Friebel, Tara M., Agnarsson, Bjarni A., Lu, Karen H., Lejbkowicz, Flavio, James, Paul A., Hall, Per, Dunning, Alison M., Tessier, Daniel, Cunningham, Julie, Slager, Susan L., Wang, Chen, Hart, Steven, Stevens, Kristen, Simard, Jacques, Pastinen, Tomi, Pankratz, Vernon S., Offit, Kenneth, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C.
Publicado em 2013