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Material Type: Artigo
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Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibilityPatsopoulos, Nikolaos A. ; Baranzini, Sergio E. ; Santaniello, Adam ; Shoostari, Parisa ; Cotsapas, Chris ; Vlachos, Ioannis S. ; Pers, Tune H. ; Brandes, Aaron ; White, Charles ; Panteliadis, Ioannis-Pavlos ; Robbins, Allison ; Andlauer, Till F. M. ; Zarzycki, Onigiusz ; Dubois, Bénédicte ; Søndergaard, Helle Bach ; Sellebjerg, Finn ; Ullum, Henrik ; Saarela, Janna ; Cournu-Rebeix, Isabelle ; Damotte, Vincent ; Fontaine, Bertrand ; Guillot-Noel, Lena ; Lathrop, Mark ; Vukusic, Sandra ; Berthele, Achim ; Pongratz, Viola ; Buck, Dorothea ; Knier, Benjamin ; Lill, Christina M. ; Zipp, Frauke ; Amoroso, Antonio ; Barizzone, Nadia ; Cavalla, Paola ; Comi, Giancarlo ; Cusi, Daniele ; Esposito, Federica ; Ferrè, Laura ; Galimberti, Daniela ; Guaschino, Clara ; Martinelli, Vittorio ; Moiola, Lucia ; Salvetti, Marco ; Vecchio, Domizia ; Zauli, Andrea ; Santoro, Silvia ; Zuccalà, Miriam ; Mescheriakova, Julia ; van Duijn, Cornelia ; Celius, Elisabeth G. ; Spurkland, Anne ; Comabella, Manuel ; Montalban, Xavier ; Alfredsson, Lars ; Hillert, Jan ; Jagodic, Maja ; Lindén, Magdalena ; Piehl, Fredrik ; Martin, Roland ; Sospedra, Mirela ; Baker, Amie ; Ban, Maria ; Hawkins, Clive ; Kalra, Seema ; Khadake, Jyoti ; Molyneux, Paul ; Neville, Matthew ; Thorpe, John ; Bradshaw, Elizabeth ; Caillier, Stacy J. ; Cree, Bruce A. C. ; Davis, Mary ; de Bakker, Paul W. I. ; Delgado, Silvia ; Dembele, Marieme ; Edwards, Keith ; Gourraud, Pierre-Antoine ; Haines, Jonathan L ; Kimbrough, Dorlan ; Isobe, Noriko ; Lathi, Ellen ; Lee, Michelle H. ; An, David ; Zimmer, Andrew ; Manrique, Clara P. ; Mitrovic, Mitja ; Piccio, Laura ; Weiner, Howard ; Compston, Alastair ; Harbo, Hanne F. ; Hauser, Stephen L. ; Stewart, Graeme ; Hadjigeorgiou, Georgios ; Taylor, Bruce ; Booth, David ; Kockum, Ingrid ; Oksenberg, Jorge R. ; Sawcer, Stephen ; Ivinson, Adrian J. ; Olsson, Tomas ; De Jager, Philip L.Science (American Association for the Advancement of Science), 2019-09, Vol.365 (6460), p.1417 [Periódico revisado por pares]United States: The American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Deletion of DXZ4 on the human inactive X chromosome alters higher-order genome architectureDarrow, Emily M. ; Huntley, Miriam H. ; Dudchenko, Olga ; Stamenova, Elena K. ; Durand, Neva C. ; Sun, Zhuo ; Huang, Su-Chen ; Sanborn, Adrian L. ; Machol, Ido ; Shamim, Muhammad ; Seberg, Andrew P. ; Lander, Eric S. ; Chadwick, Brian P. ; Aiden, Erez LiebermanProceedings of the National Academy of Sciences - PNAS, 2016-08, Vol.113 (31), p.E4504-E4512 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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Noncoding RNAs and Epigenetic Mechanisms During X-Chromosome InactivationGendrel, Anne-Valerie ; Heard, EdithAnnual review of cell and developmental biology, 2014-01, Vol.30 (1), p.561-580 [Periódico revisado por pares]United States: Annual ReviewsTexto completo disponível |
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Material Type: Artigo
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A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1Strange, Amy ; Capon, Francesca ; Spencer, Chris C A ; Knight, Jo ; Weale, Michael E ; Allen, Michael H ; Barton, Anne ; Band, Gavin ; Bellenguez, Céline ; Bergboer, Judith G M ; Blackwell, Jenefer M ; Bramon, Elvira ; Bumpstead, Suzannah J ; Casas, Juan P ; Cork, Michael J ; Corvin, Aiden ; Deloukas, Panos ; Dilthey, Alexander ; Duncanson, Audrey ; Edkins, Sarah ; Estivill, Xavier ; Fitzgerald, Oliver ; Freeman, Colin ; Giardina, Emiliano ; Gray, Emma ; Hofer, Angelika ; Hüffmeier, Ulrike ; Hunt, Sarah E ; Irvine, Alan D ; Jankowski, Janusz ; Kirby, Brian ; Langford, Cordelia ; Lascorz, Jesús ; Leman, Joyce ; Leslie, Stephen ; Mallbris, Lotus ; Markus, Hugh S ; Mathew, Christopher G ; McLean, W H Irwin ; McManus, Ross ; Mössner, Rotraut ; Moutsianas, Loukas ; Naluai, Asa T ; Nestle, Frank O ; Novelli, Giuseppe ; Onoufriadis, Alexandros ; Palmer, Colin N A ; Perricone, Carlo ; Pirinen, Matti ; Plomin, Robert ; Potter, Simon C ; Pujol, Ramon M ; Rautanen, Anna ; Riveira-Munoz, Eva ; Ryan, Anthony W ; Salmhofer, Wolfgang ; Samuelsson, Lena ; Sawcer, Stephen J ; Schalkwijk, Joost ; Smith, Catherine H ; Ståhle, Mona ; Su, Zhan ; Tazi-Ahnini, Rachid ; Traupe, Heiko ; Viswanathan, Ananth C ; Warren, Richard B ; Weger, Wolfgang ; Wolk, Katarina ; Wood, Nicholas ; Worthington, Jane ; Young, Helen S ; Zeeuwen, Patrick L J M ; Hayday, Adrian ; Burden, A David ; Griffiths, Christopher E M ; Kere, Juha ; Reis, André ; McVean, Gilean ; Evans, David M ; Brown, Matthew A ; Barker, Jonathan N ; Peltonen, Leena ; Donnelly, Peter ; Trembath, Richard CNature genetics, 2010-11, Vol.42 (11), p.985-990 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumorWang, Zhaoming ; McGlynn, Katherine A ; Rajpert-De Meyts, Ewa ; Bishop, D Timothy ; Chung, Charles C ; Dalgaard, Marlene D ; Greene, Mark H ; Gupta, Ramneek ; Grotmol, Tom ; Haugen, Trine B ; Karlsson, Robert ; Litchfield, Kevin ; Mitra, Nandita ; Nielsen, Kasper ; Pyle, Louise C ; Schwartz, Stephen M ; Thorsson, Vésteinn ; Vardhanabhuti, Saran ; Wiklund, Fredrik ; Turnbull, Clare ; Chanock, Stephen J ; Kanetsky, Peter A ; Nathanson, Katherine LNature genetics, 2017-07, Vol.49 (7), p.1141-1147 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationTeague, Jon ; Van Esch, Hilde ; Carvill, Gemma ; Richardson, David ; Varian, Jennifer ; Wooster, Richard ; Stratton, Michael R ; O'Meara, Sarah ; Hardy, Claire ; Shepherd, Rebecca ; Bobrow, Martin ; Gardner, Alison ; Abidi, Fatima E ; Srivastava, Anand K ; Fullston, Tod ; Cole, Jennifer ; Jenkinson, Andrew ; Buck, Gemma ; Tarpey, Patrick S ; Futreal, P Andrew ; Latimer, Calli ; Turrell, Kelly ; Jia, Mingming ; Corbett, Mark ; Boyle, Jackie ; Luo, Ying ; Partington, Michael ; Gecz, Jozef ; van Bokhoven, Hans ; Andrews, Jenny ; Blow, Matt ; de Brouwer, Arjan P M ; Cox, James ; Whibley, Annabel ; Rujirabanjerd, Sinitdhorn ; Moon, Jenny ; Mallya, Uma ; Gray, Kristian ; Dunmore, Rebecca ; Smith, Raffaella ; Shoubridge, Cheryl ; Turner, Rachel ; Menzies, Andrew ; Maddison, Mark ; Hackett, Anna ; Barthorpe, Syd ; Martinez, Francisco ; Turner, Gillian ; Parnau, Josef ; Jones, David ; Vandeleur, Lucianne ; Chelly, Jamel ; Haan, Eric ; Greenman, Chris ; Thompson, Deborah ; Mohammed, Shehla ; Skinner, Cindy ; Mironenko, Tatiana ; Ropers, Hans-Hilger ; Xue, Yali ; Field, Michael ; Shaw, Marie ; Tyler-Smith, Chris ; Tolmie, John L ; Edkins, Sarah ; Pleasance, Erin ; Stevenson, Roger E ; Schwartz, Charles E ; Widaa, Sara ; Stephens, Phil ; Goliath, Rene ; Raynaud, Martine ; Easton, Douglas F ; Dicks, Ed ; Butler, Adam ; Raymond, F Lucy ; Wray, Paul ; Tejada, M Isabel ; West, SofieNature genetics, 2009-05, Vol.41 (5), p.535-543 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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AlleleSeq: analysis of allele‐specific expression and binding in a network frameworkRozowsky, Joel ; Abyzov, Alexej ; Wang, Jing ; Alves, Pedro ; Raha, Debasish ; Harmanci, Arif ; Leng, Jing ; Bjornson, Robert ; Kong, Yong ; Kitabayashi, Naoki ; Bhardwaj, Nitin ; Rubin, Mark ; Snyder, Michael ; Gerstein, MarkMolecular systems biology, 2011-08, Vol.7 (1), p.522-n/a [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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DNA methylation profiles of human active and inactive X chromosomesSharp, Andrew J ; Stathaki, Elisavet ; Migliavacca, Eugenia ; Brahmachary, Manisha ; Montgomery, Stephen B ; Dupre, Yann ; Antonarakis, Stylianos EGenome research, 2011-10, Vol.21 (10), p.1592-1600 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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Material Type: Artigo
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Isolation of MECP2-nuLl Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivationCHEUNG, Aaron Y. L ; HORVATH, Lindsay M ; GRAFODATSKAYA, Daria ; PASCERI, Peter ; WEKSBERG, Rosanna ; HOTTA, Akitsu ; CARREL, Laura ; ELLIS, JamesHuman molecular genetics, 2011-06, Vol.20 (11), p.2103-2115 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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SNPs in human miRNA genes affect biogenesis and functionSun, Guihua ; Yan, Jin ; Noltner, Katie ; Feng, Jinong ; Li, Haitang ; Sarkis, Daniel A ; Sommer, Steve S ; Rossi, John JRNA (Cambridge), 2009-09, Vol.15 (9), p.1640-1651 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |