Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations von Faivre, Laurence, Masurel-Paulet, Alice, Collod-Beroud, Gwenaelle, Callewaert, Bert L, Child, Anne H, Stheneur, Chantal, Binquet, Christine, Gautier, Elodie, Chevallier, Bertrand, Huet, Frederic, Loeys, Bart L, Arbustini, Eloisa, Mayer, Karin, Arslan-Kirchner, Mine, Kiotsekoglou, Anatoli, Comeglio, Paolo, Grasso, Maurizia, Halliday, Dorothy J, Beroud, Christophe, Bonithon-Kopp, Claire, Claustres, Mireille, Robinson, Peter N, Ades, Lesley, De Backer, Julie, Coucke, Paul, Francke, Uta, De Paepe, Anne, Boileau, Catherine, Jondeau, Guillaume

Volltext

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders von Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Matos Ruiz, Paola M., England, Eleina M., Pais, Lynn, Groopman, Emily, Russell, Kathryn A., Di Gioia, Silvio Alessandro, Lee, Arthur S., Shaaban, Sherin, Bekele, Sarah, Toffoloni, Melissa, Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Lee Dahm, Thomas, David, Karen L., De Berardinis, Teresa, Demer, Joseph L., Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Gerth-Kahlert, Christina, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Holder, Christopher, Iannaccone, Alessandro, Isenberg, Sherwin J., Kahana, Alon, Kazlas, Melanie, Kerr, Natalie C., Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Mackey, David A., Mantagos, Iason S., Marti, Candice, Menezes, Manoj P., Mikail, Claudia N., Miller, Kathryn Bisceglia, Miyana, Kaori, Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pavone, Piero, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Thomas, Ioan Talfryn, VanderVeen, Deborah K., Vincent, Andrea L., Wabbels, Bettina, Wong, Agnes M.F., Wu, Carolyn, Yeung, Alison, Young, Terri L., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., Robson, Caroline D., Engle, Elizabeth C.

Volltext

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands von Faivre, L, Collod-Beroud, G, Child, A, Callewaert, B, Loeys, B L, Binquet, C, Gautier, E, Arbustini, E, Mayer, K, Arslan-Kirchner, M, Stheneur, C, Kiotsekoglou, A, Comeglio, P, Marziliano, N, Halliday, D, Beroud, C, Bonithon-Kopp, C, Claustres, M, Plauchu, H, Robinson, P N, Adès, L, De Backer, J, Coucke, P, Francke, U, De Paepe, A, Boileau, C, Jondeau, G

Volltext

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase von Jones, Amy G., Aquilino, Matilde, Tinker, Rory J., Duncan, Laura, Jenkins, Zandra, Carvill, Gemma L., DeWard, Stephanie J., Grange, Dorothy K., Hajianpour, MJ, Halliday, Benjamin J., Holder-Espinasse, Muriel, Horvath, Judit, Maitz, Silvia, Nigro, Vincenzo, Morleo, Manuela, Paul, Victoria, Spencer, Careni, Esterhuizen, Alina I., Polster, Tilman, Spano, Alice, Gómez-Lozano, Inés, Kumar, Abhishek, Poke, Gemma, Phillips, John A., Underhill, Hunter R., Gimenez, Gregory, Namba, Takashi, Robertson, Stephen P.

Volltext

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation von Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.

Volltext

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas von Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M, Domingo, Enric, Jones, Angela M, Broderick, Peter, Kemp, Zoe, Spain, Sarah L, Guarino, Estrella, Salguero, Israel, Sherborne, Amy, Chubb, Daniel, Carvajal-Carmona, Luis G, Ma, Yusanne, Kaur, Kulvinder, Dobbins, Sara, Barclay, Ella, Gorman, Maggie, Martin, Lynn, Kovac, Michal B, Humphray, Sean, Lucassen, Anneke, Holmes, Christopher C, Bentley, David, Donnelly, Peter, Taylor, Jenny, Petridis, Christos, Roylance, Rebecca, Sawyer, Elinor J, Kerr, David J, Clark, Susan, Grimes, Jonathan, Kearsey, Stephen E, Thomas, Huw J W, McVean, Gilean, Houlston, Richard S, Tomlinson, Ian

Volltext

Late, not early mismatch responses to changes in frequency are reduced or deviant in children with dyslexia: an event-related potential study von Halliday, Lorna F, Barry, Johanna G, Hardiman, Mervyn J, Bishop, Dorothy Vm

Volltext

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis von Smith, Miriam J, Perez-Becerril, Cristina, van der Meer, Mwee, Burghel, George J, Waller, Sarah J, Carney, Megan, Bunstone, Sancha, Fryer, Katherine, Bowers, Naomi L, Hartley, Claire L, Smith, Philip T, Rutherford, Scott A, Freeman, Simon R, Lloyd, Simon K W, Pathmanaban, Omar N, King, Andrew Thomas, Halliday, Dorothy, Duff, Chris, Evans, D Gareth

Volltext

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at... von Smith, Miriam J, Higgs, Jenny E, Bowers, Naomi L, Halliday, Dorothy, Paterson, Joan, Gillespie, James, Huson, Susan M, Freeman, Simon R, Lloyd, Simon, Rutherford, Scott A, King, Andrew T, Wallace, Andrew J, Ramsden, Richard T, Evans, D Gareth R

Volltext

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis von Smith, Miriam J, Isidor, Bertand, Beetz, Christian, Williams, Simon G, Bhaskar, Sanjeev S, Richer, Wilfrid, OʼSullivan, James, Anderson, Beverly, Daly, Sarah B, Urquhart, Jill E, Fryer, Alan, Rustad, Cecilie F, Mills, Samantha J, Samii, Amir, du Plessis, Daniel, Halliday, Dorothy, Barbarot, Sebastien, Bourdeaut, Franck, Newman, William G, Evans, D Gareth

Volltext

Screening and intervening: Psychological distress in neurofibromatosis type 2 (NF2) von Quarmby, Louise May, Dalton, Louise J., Woolrich, Rachel A., Clarke, Rachel, Emmanouil, Beatrice, Patel, Sonia, Rands, Gabriella, Parry, Allyson, Halliday, Dorothy

Volltext

The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource von Huntley, Catherine, Loong, Lucy, Mallinson, Corinne, Bethell, Rachel, Rahman, Tameera, Alhaddad, Neelam, Tulloch, Oliver, Zhou, Xue, Lee, Jason, Eves, Paul, Cook, Jacqueline, Armstrong, Ruth, Ahmed, Munaza, McVeigh, Terri, DeSouza, Bianca, Kulkarni, Anjana, Bezuidenhout, Heirdre, Martin, Richard, Holliday, Debbie, Hart, Rachel, Lalloo, Fiona, Donaldson, Alan, Cleaver, Ruth, Willis, Catherine, Kiesel, Victoria, O'Reilly, Marie-Anne, Halliday, Dorothy, Solomons, Joyce, Ong, Kai Ren, McRonald, Fiona, Torr, Bethany, Burn, John, Shaw, Adam, Morris, Eva J.A., Monahan, Kevin, Hardy, Steven, Turnbull, Clare

Volltext

Schwannomatosis: a genetic and epidemiological study von Evans, D Gareth, Bowers, Naomi L, Tobi, Simon, Hartley, Claire, Wallace, Andrew J, King, Andrew T, Lloyd, Simon K W, Rutherford, Scott A, Hammerbeck-Ward, Charlotte, Pathmanaban, Omar N, Freeman, Simon R, Ealing, John, Kellett, Mark, Laitt, Roger, Thomas, Owen, Halliday, Dorothy, Ferner, Rosalie, Taylor, Amy, Duff, Chris, Harkness, Elaine F, Smith, Miriam J

Volltext

The 8q24 rs6983267G variant is associated with increased thyroid cancer risk von Sahasrabudhe, Ruta, Estrada, Ana, Lott, Paul, Martin, Lynn, Polanco Echeverry, Guadalupe, Velez, Alejandro, Neta, Gila, Takahasi, Meiko, Saenko, Vladimir, Mitsutake, Norisato, Jaeguer, Emma, Duque, Carlos Simon, Rios, Alejandro, Bohorquez, Mabel, Prieto, Rodrigo, Criollo, Angel, Echeverry, Magdalena, Tomlinson, Ian, Carvajal Carmona, Luis G

Volltext

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas von Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M, Domingo, Enric, Jones, Angela M, Broderick, Peter, Kemp, Zoe, Spain, Sarah L, Guarino, Estrella, Salguero, Israel, Sherborne, Amy, Chubb, Daniel, Carvajal-Carmona, Luis G, Ma, Yusanne, Kaur, Kulvinder, Dobbins, Sara, Barclay, Ella, Gorman, Maggie, Martin, Lynn, Kovac, Michal B, Humphray, Sean, Thomas, Huw J W, Maher, Eamonn, Evans, Gareth, Lucassen, Anneke, Cummings, Carole, Stevens, Margaret, Walker, Lisa, Halliday, Dorothy, Armstrong, Ruth, Paterson, Joan, Hodgson, Shirley, Homfray, Tessa, Side, Lucy, Izatt, Louise, Donaldson, Alan, Tomkins, Susan, Morrison, Patrick, Goodman, Selina, Brewer, Carole, Henderson, Alex, Davidson, Rosemarie, Murday, Victoria, Cook, Jaqueline, Haites, Neva, Bishop, Timothy, Sheridan, Eamonn, Green, Andrew, Marks, Christopher, Carpenter, Sue, et. al

Volltext

Cranial meningiomas in 411 NF2 patients with proven gene mutations: Clear positional effect of mutations, but absence of female severity effect on age at onset von Smith, Miriam Jane, Higgs, Jenny E, Bowers, Naomi L, Halliday, Dorothy, Patterson, Joan, Gillespie, James, Huson, Susan M, Freeman, Simon R, Lloyd, Simon, Rutherford, Scott A, King, Andrew T, Wallace, Andrew J, Ramsden, Richard T, Evans, D. Gareth R

Volltext

NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study von Forde, Claire, Smith, Miriam J, Burghel, George J, Bowers, Naomi, Roberts, Nicola, Lavin, Tim, Halliday, Jane, King, Andrew Thomas, Rutherford, Scott, Pathmanaban, Omar N, Lloyd, Simon, Freeman, Simon, Halliday, Dorothy, Parry, Allyson, Axon, Patrick, Buttimore, Juliette, Afridi, Shazia, Obholzer, Rupert, Laitt, Roger, Thomas, Owen, Stivaros, Stavros Michael, Vassallo, Grace, Evans, D Gareth

Volltext bestellen

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study von Bancroft, Elizabeth K, Page, Elizabeth C, Brook, Mark N, Thomas, Sarah, Taylor, Natalie, Pope, Jennifer, McHugh, Jana, Jones, Ann-Britt, Karlsson, Questa, Merson, Susan, Ong, Kai Ren, Hoffman, Jonathan, Huber, Camilla, Maehle, Lovise, Grindedal, Eli Marie, Stormorken, Astrid, Evans, D Gareth, Rothwell, Jeanette, Lalloo, Fiona, Brady, Angela F, Bartlett, Marion, Snape, Katie, Hanson, Helen, James, Paul, McKinley, Joanne, Mascarenhas, Lyon, Syngal, Sapna, Ukaegbu, Chinedu, Side, Lucy, Thomas, Tessy, Barwell, Julian, Teixeira, Manuel R, Izatt, Louise, Suri, Mohnish, Macrae, Finlay A, Poplawski, Nicola, Chen-Shtoyerman, Rakefet, Ahmed, Munaza, Musgrave, Hannah, Nicolai, Nicola, Greenhalgh, Lynn, Brewer, Carole, Pachter, Nicholas, Spigelman, Allan D, Azzabi, Ashraf, Helfand, Brian T, Halliday, Dorothy, Buys, Saundra, Cajal, Teresa Ramon Y, Donaldson, Alan, Cooney, Kathleen A, Harris, Marion, McGrath, John, Davidson, Rosemarie, Taylor, Amy, Cooke, Peter, Myhill, Kathryn, Hogben, Matthew, Aaronson, Neil K, Ardern-Jones, Audrey, Bangma, Chris H, Castro, Elena, Dearnaley, David, Dias, Alexander, Dudderidge, Tim, Eccles, Diana M, Green, Kate, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lilja, Hans, Lindeman, Geoffrey J, Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita, Moynihan, Clare, Raghallaigh, Holly Ni, Rennert, Gad, Collier, Rebecca, Offman, Judith, Kote-Jarai, Zsofia, Eeles, Rosalind A

Volltext bestellen

Late, not early mismatch responses to changes in frequency are reduced or deviant in children with dyslexia: an event-related potential study von Halliday, Lorna F, Barry, Johanna G, Hardiman, Mervyn J, Bishop, Dorothy Vm

Volltext bestellen

Diffuse Polyclonal B-Cell Lymphoma during Primary Infection with Epstein–Barr Virus von Robinson, James E, Brown, Nathaniel, Andiman, Warren, Halliday, Karen, Francke, Uta, Robert, Marie F, Andersson-Anvret, Maria, Horstmann, Dorothy, Miller, George

Volltext