Contribution of large genomic rearrangements in PALB2 to familial breast cancer: Implications for genetic testing
- Creator: Li, Na , Zethoven, Magnus , McInerny, Simone , Healey, Eliza , DeSilva, Dilanka , Devereux, Lisa , Scott, Rodney J. , James, Paula A. , Campbell, Ian G.
- Resource Type: journal article
- Date: 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
- Creator: Peluso, Francesca , Caraffi, Stefano G. , Bisgaard, Anne-Marie , Ivanovski, Ivan , Maitz, Silvia , Brischoux-Boucher, Elise , Carter, Melissa T. , Dentici, Maria Lisa , Devriendt, Koenraad , Bellini, Melissa , Digilio, Maria Cristina , Doja, Asif , Contrò, Gianluca , Dyment, David A. , Farholt, Stense , Ferreira, Carlos R. , Wolfe, Lynne A. , Gahl, William A. , Gnazzo, Maria , Goel, Himanshu , Gronborg, Sabine Weller , Hammer, Trine , Iughetti, Lorenzo , Valeri, Lara , Kleefstra, Tjitske , Koolen, David A. , Lepri, Francesca Romana , Lemire, Gabrielle , Louro, Pedro , McCullagh, Gary , Madeo, Simona F. , Milone, Annarita , Milone, Roberta , Nielsen, Jens Erik Klint , Napoli, Manuela , Novelli, Antonio , Ockeloen, Charlotte W. , Pascarella, Rosario , Pippucci, Tommaso , Ricca, Ivana , Robertson, Stephen P. , Sawyer, Sarah , Falkenberg Smeland, Marie , Stegmann, Sander , Stumpel, Constanze T. , Carboni, Giorgia , Goel, Amy , Taylor, Juliet M. , Barbuti, Domenico , Soresina, Annarosa , Bedeschi, Maria Francesca , Battini, Roberta , Cavalli, Anna , Fusco, Carlo , Iascone, Maria , Van Maldergem, Lionel , Seth, Alka , Venkateswaran, Sunita , Zuffardi, Orsetta , Vergano, Samantha , Garavelli, Livia , Bayat, Allan , Zuntini, Roberta , Coccia, Emanuele , Astrea, Guja
- Resource Type: journal article
- Date: 2023
OTX2 duplications: A recurrent cause of oculo-auriculo-vertebral spectrum
- Creator: Celse, Tristan , Tingaud-Sequeira, Angèle , Satre, Véronique , Vieville, Gaelle , Bidart, Marie , Zander, Cecilia Soussi , Turesson, Ann-Charlotte , Splitt, Miranda , Reboul, Dorothee , Chiesa, Jean , Van Kien, Philippe Khau , Godin, Manon , Dieterich, Klaus , Gruchy, Nicolas , Goel, Himanshu , Palmer, E , Demetriou, K , Shalhoub, C , Rooryck-Thambo, C , Coutton, C , Siegfried, Geraldine , Lecaignec, Cédric , Bouneau, Laurence , Fannemel, Madeleine , Salaun, Gaelle , Laffargue, Fanny , Martinez, Guillaume
- Resource Type: journal article
- Date: 2022
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
- Creator: Southey, Melissa C. , Goldgar, David E. , Heikkinen, Tuomas , Nevanlinna, Heli , Hopper, John L. , Dörk, Thilo , Claes, Kathleen B. M. , Reis-Filho, Jorge , Teo, Zhi Ling , Radice, Paolo , Catucci, Irene , Peterlongo, Paolo , Winqvist, Robert , Tsimiklis, Helen , Odefrey, Fabrice A. , Dowty, JG , Schmidt, MK , Broeks, A , Hogervorst, FB , Verhoef, S , Carpenter, J , Clarke, C , Scott, Rodney J. , Pylkäs, Katri , Fasching, PA , Haeberle, L , Ekici, AB , Beckmann, MW , Peto, J , dos-Santos-Silva, I , Fletcher, O , Johnson, N , Bolla, MK , Sawyer, EJ , Couch, Fergus , Tomlinson, I , Kerin, MJ , Miller, N , Marme, F , Burwinkel, B , Yang, R , Guénel, P , Truong, T , Menegaux, F , Sanchez, M , Tischkowitz, Marc , Bojesen, S , Nielsen, SF , Flyger, H , Benitez, J , Zamora, MP , Perez, JIA , Menéndez, P , Anton-Culver, H , Neuhausen, S , Ziogas, A , Foulkes, William D. , Clarke, CA , Brenner, H , Arndt, V , Stegmaier, C , Brauch, H , Brüning, T , Ko, YD , Muranen, TA , Aittomäki, K , Blomqvist, C , Dennis, Joe , Bogdanova, NV , Antonenkova, NN , Lindblom, A , Margolin, S , Mannermaa, A , Kataja, V , Kosma, VM , Hartikainen, JM , Spurdle, AB , Michailidou, Kyriaki , van Rensburg, Elizabeth J.
- Resource Type: journal article
- Date: 2016
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- Creator: Corbett, Mark A. , Dudding-Byth, Tracy , Friend, Kathryn L. , Crawford, Jo , Jackson, Graeme , Vandeleur, Lucianne , Hackett, Anna , Tarpey, Patrick , Stratton, Michael R. , Turner, Gillian , Gécz, Jozef , Field, Michael , Crock, Patricia A. , Botta, Elena , Christie, Louise M. , Nardo, Tiziana , Caligiuri, Giuseppina , Hobson, Lynne , Boyle, Jackie , Mansour, Albert
- Resource Type: journal article
- Date: 2015
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
- Creator: Thorwarth, Anne , Schnittert-Hüebener, Sarah , Ebert, Grit , Steininger, Anne , Böennemann, Carsten , Brockmann, Knut , Christen, Hans-Jürgen , Crock, Patricia , deZegher, Francis , Griese, Matthias , Hewitt, Jacqueline , Ivarsson, Sten , Schrumpf, Pamela , Hüebner, Christoph , Kapelari, Klaus , Plecko, Barbara , Rating, Dietz , Stoeva, Iva , Ropers, Hans-Hilger , Grüeters, Annette , Ullmann, Reinhard , Krude, Heiko , Müeller, Ines , Jyrch, Sabine , Dame, Christof , Biebermann, Heike , Kleinau, Gunnar , Katchanov, Juri , Schuelke, Markus
- Resource Type: journal article
- Date: 2014
Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
- Creator: Lill, Christina M. , Liu, Tian , Blaschke, Paul , Winkelmann, Alexander , Gerdes, Lisa-Ann , Luessi, Felix , Fernadez, Oscar , Izquierdo, Guillermo , Antiguedad, Alfredo , Hoffjan, Sabine , Cournu-Rebeix, Isabelle , Gromoller, Silvana , Schjeide, Brit-Maren M. , Faber, Hans , Liebsch, Maria , Meissner, Esther , Chanvillard, Coralie , Touze, Emmauel , Pico, Fernando , Corcia, Philippe , Bahlo, Melanie , Booth, David R. , Broadley, Simon , Roehr, Johannes T. , Brown, Matthew A. , Browning, Brian L. , Browning, Sharon R. , Butzkueven, Helmut , Carroll, William M. , Cox, Mathew B. , Chapman, Caron , Clarke, Glynnis , Danoy, Patrick , Drysdale, Karen , Akkad, Denis A. , Field, Judith , Foote, Simon J. , Greer, Judith M. , Griffiths, Lyn R. , Hadler, Johanna , Jensen, Cathy J. , Johnson, Laura J. , Kermode, Allan G. , Heard, Robert N. , Kilpatrick, Trevor J. , Damotte, Vincent , Lechner-Scott, Jeanette , Marriott, Mark , Mason, Deborah , Moscato, Pablo , Pender, Michael P. , Perreau, Victoria M. , Rubio, Justin P. , Scott, Rodney J. , Slee, Mark , Stankovich, Jim , Alcina, Antonio , Stewart, Graeme J. , Tajouri, Lofti , Taylor, Bruce V. , Wiley, James , Wilkins, Ella J. , Dörner, Thomas , Steinhagen-Thiessen, Elisabeth , Baeckman, Lars , Heekeren, Hauke R. , Li, Shu-Chen , Ortiz, Miguel A. , Lindenberger, Ulman , Chan, Andrew , Hartung, Hans-Peter , Aktas, Orhan , Lohse, Peter , Kümpfel, Tania , Kubisch, Christian , Epplen, Joerg T. , Zettl, Uwe K. , Fontaine, Bertrand , Arroyo, Rafa , Vandenbroeck, Koen , Matesanz, Fuencisla , Urcelay, Elena , Bertram, Lars , Zipp, Frauke , Lopez de Lapuente, Aitzkoa
- Resource Type: journal article
- Date: 2012
Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome
- Creator: Talseth-Palmer, Bente A. , Brenne, Ingvild S. , Scott, Rodney J. , Ashton, Katie A. , Evans, Tiffany-Jane , McPhillips, Mary , Groombridge, Claire , Suchy, Janina , Kurzawski, Grzegorz , Spigelman, Allan , Lubinski, Jan
- Resource Type: journal article
- Date: 2011
Gastrointestinal polyps in McCune Albright syndrome
- Creator: Zacharin, Margaret , Bajpai, Anurag , Chow, Chung Wo , Catto-Smith, Anthony , Stratakis, Constantine , Wong, Michelle W. , Scott, Rodney
- Resource Type: journal article
- Date: 2011
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
- Creator: Maupetit-Méhouas, Stéphanie , Mariot, Virginie , Shenoy, Savitha , Agbo-Kpati, Placide , Ronan, Anne , Naud-Saudreau, Catherine , Lienhardt, Anne , Silve, Caroline , Linglart, Agnès , Reynès, Christelle , Bertrand, Guylène , Feillet, Francois , Carel, Jean-Claude , Simon, Dominique , Bihan, Hélène , Gajdos, Vincent , Devouge, Eve
- Resource Type: journal article
- Date: 2011
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
- Creator: Hynes, Kim , Tarpey, Patrick , Haan, Eric , Turner, Gillian , Christodoulou, John , Leonard, Helen , Gill, Deepak , Stratton, Michael R. , Gecz, Jozef , Scheffer, Ingrid E. , Dibbens, Leanne M. , Bayly, Marta A. , Berkovic, Samuel F. , Smith, Raffaella , Al Raisi, Zahyia , Turner, Samantha J. , Brown, Natasha J. , Desai, Tarishi D.
- Resource Type: journal article
- Date: 2010
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
- Creator: Tan, T. Y. , Aftimos, S. , Slavotinek, A. , Hogue, J. , Moeschler, J. B. , Ozmore, J. , Widmer, R. , Savarirayan, R. , Peters, G. , Worgan, L. , Susman, R. , Wilson, M. , Ghedia, S. , Kirk, E. P. , Love, D. , Ronan, A. , Darmanian, A.
- Resource Type: journal article
- Date: 2009