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Nature Genetics, ISSN 1061-4036, 02/2008, Volume 40, Issue 2, pp. 211 - 216
Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance(1-3). In... 
SIGNAL-TRANSDUCTION | LYN | HAPLOTYPE RECONSTRUCTION | ACTIVATION | PHOSPHORYLATION | SEQUENCE | GENETICS & HEREDITY | RECEPTOR | EXPRESSION | Haplotypes | Alternative Splicing | Exons | Humans | DNA, Complementary - genetics | Lupus Erythematosus, Systemic - metabolism | Molecular Sequence Data | Histidine - metabolism | Case-Control Studies | Genetic Variation | Protein Isoforms - metabolism | Protein Isoforms - chemistry | Gene Deletion | Chromosomes, Human | Membrane Proteins - metabolism | B-Lymphocytes - metabolism | DNA, Complementary - analysis | Protein Structure, Tertiary | Amino Acid Sequence | Genetic Predisposition to Disease | Introns | Lupus Erythematosus, Systemic - epidemiology | Membrane Proteins - genetics | Physical Chromosome Mapping | Gene Frequency | Logistic Models | Lupus Erythematosus, Systemic - etiology | Sweden - epidemiology | Sequence Analysis, DNA | Amino Acid Motifs | Linkage Disequilibrium | Ankyrin Repeat - genetics | Lupus Erythematosus, Systemic - genetics | Adaptor Proteins, Signal Transducing - genetics | Alleles | Polymorphism, Single Nucleotide | Adaptor Proteins, Signal Transducing - metabolism | Genome, Human | Lupus Erythematosus, Systemic - pathology | Amino Acid Substitution | Cohort Studies | Protein Isoforms - genetics | Usage | Systemic lupus erythematosus | Physiological aspects | Genetic aspects | B cells | Research | Single nucleotide polymorphisms | Lupus | Proteins | Genetics | Autoimmune diseases | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
Journal Article
by Beecham, Ashley H and Patsopoulos, Nikolaos A and Xifara, Dionysia K and Davis, Mary F and Kemppinen, Anu and Cotsapas, Chris and Shah, Tejas S and Spencer, Chris and Booth, David and Goris, An and Oturai, Annette and Saarela, Janna and Fontaine, Bertrand and Hemmer, Bernhard and Martin, Claes and Zipp, Frauke and D'Alfonso, Sandra and Martinelli-Boneschi, Filippo and Taylor, Bruce and Harbo, Hanne F and Kockum, Ingrid and Hillert, Jan and Olsson, Tomas and Ban, Maria and Oksenberg, Jorge R and Hintzen, Rogier and Barcellos, Lisa F and Agliardi, Cristina and Alfredsson, Lars and Alizadeh, Mehdi and Anderson, Carl and Andrews, Robert and Søndergaard, Helle Bach and Baker, Amie and Band, Gavin and Baranzini, Sergio E and Barizzone, Nadia and Barrett, Jeffrey and Bellenguez, Céline and Bergamaschi, Laura and Bernardinelli, Luisa and Berthele, Achim and Biberacher, Viola and Binder, Thomas M.C and Blackburn, Hannah and Bomfim, Izaura L and Brambilla, Paola and Broadley, Simon and Brochet, Bruno and Brundin, Lou and Buck, Dorothea and Butzkueven, Helmut and Caillier, Stacy J and Camu, William and Carpentier, Wassila and Cavalla, Paola and Celius, Elisabeth G and Coman, Irène and Comi, Giancarlo and Corrado, Lucia and Cosemans, Leentje and Cournu-Rebeix, Isabelle and Cree, Bruce A.C and Cusi, Daniele and Damotte, Vincent and Defer, Gilles and Delgado, Silvia R and Deloukas, Panos and Di Sapio, Alessia and Dilthey, Alexander T and Donnelly, Peter and Dubois, Bénédicte and Duddy, Martin and Edkins, Sarah and Elovaara, Irina and Esposito, Federica and Evangelou, Nikos and Fiddes, Barnaby and Field, Judith and Franke, Andre and Freeman, Colin and Frohlich, Irene Y and Galimberti, Daniela and Gieger, Christian and Gourraud, Pierre-Antoine and Graetz, Christiane and Graham, Andrew and Grummel, Verena and Guaschino, Clara and Hadjixenofontos, Athena and Hakonarson, Hakon and Halfpenny, Christopher and Hall, Gillian and Hall, Per and Hamsten, Anders and Harley, James and Harrower, Timothy and Hawkins, Clive and Hellenthal, Garrett and Hillier, Charles and ... and Wellcome Trust Case Control Consor and Int IBD Genetics Consortium IIBDGC and International Multiple Sclerosis Genetics Consortium (IMSGC) and Wellcome Trust Case Control Consortium 2 (WTCCC2) and International IBD Genetics Consortium (IIBDGC) and Institutionen för fysik, kemi och biologi and Linköpings universitet and Bioinformatik and Tekniska högskolan
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 11, pp. 1353 - 1362
Journal Article
by Steri, Maristella and Orrù, Valeria and Idda, M. Laura and Pitzalis, Maristella and Pala, Mauro and Zara, Ilenia and Sidore, Carlo and Faà, Valeria and Floris, Matteo and Deiana, Manila and Asunis, Isadora and Porcu, Eleonora and Mulas, Antonella and Piras, Maria G and Lobina, Monia and Lai, Sandra and Marongiu, Michele and Marongiu, Mara and Serra, Valentina and Sole, Gabriella and Busonero, Fabio and Maschio, Andrea and Cusano, Roberto and Cuccuru, Gianmauro and Deidda, Francesca and Poddie, Fausto and Farina, Gabriele and Dei, Mariano and Virdis, Francesca and Olla, Stefania and Satta, Maria A and Pani, Mario and Pani, Antonello and Delitala, Alessandro and Cocco, Eleonora and Frau, Jessica and Coghe, Giancarlo and Lorefice, Lorena and Fenu, Giuseppe and Ferrigno, Paola and Ban, Maria and Barizzone, Nadia and Leone, Maurizio and Guerini, Franca R and Piga, Matteo and Firinu, Davide and Kockum, Ingrid and Lima Bomfim, Izaura and Olsson, Tomas and Alfredsson, Lars and Suarez, Ana and Carreira, Patricia E and Castillo-Palma, Maria J and Marcus, Joseph H and Congia, Mauro and Angius, Andrea and Melis, Maurizio and Gonzalez, Antonio and Alarcón Riquelme, Marta E and da Silva, Berta M and Marchini, Maurizio and Danieli, Maria G and Del Giacco, Stefano and Mathieu, Alessandro and Montgomery, Stephen B and Rosati, Giulio and Hillert, Jan and Sawcer, Stephen and D’Alfonso, Sandra and Todd, John A and Novembre, John and Abecasis, Gonçalo R and Whalen, Michael B and Marrosu, Maria G and Meloni, Alessandra and Sanna, Serena and Gorospe, Myriam and Schlessinger, David and Fiorillo, Edoardo and Zoledziewska, Magdalena and Cucca, Francesco
The New England Journal of Medicine, ISSN 0028-4793, 04/2017, Volume 376, Issue 17, pp. 1615 - 1626
Journal Article
by Baranzini, Sergio E and Khankhanian, Pouya and Patsopoulos, Nikolaos A and Li, Michael and Stankovich, Jim and Cotsapas, Chris and Søndergaard, Helle Bach and Ban, Maria and Barizzone, Nadia and Bergamaschi, Laura and Booth, David and Buck, Dorothea and Cavalla, Paola and Celius, Elisabeth G and Comabella, Manuel and Comi, Giancarlo and Compston, Alastair and Cournu-Rebeix, Isabelle and D’alfonso, Sandra and Damotte, Vincent and Din, Lennox and Dubois, Bénédicte and Elovaara, Irina and Esposito, Federica and Fontaine, Bertrand and Franke, Andre and Goris, An and Gourraud, Pierre-Antoine and Graetz, Christiane and Guerini, Franca R and Guillot-Noel, Léna and Hafler, David and Hakonarson, Hakon and Hall, Per and Hamsten, Anders and Harbo, Hanne F and Hemmer, Bernhard and Hillert, Jan and Kemppinen, Anu and Kockum, Ingrid and Koivisto, Keijo and Larsson, Malin and Lathrop, Mark and Leone, Maurizio and Lill, Christina M and Macciardi, Fabio and Martin, Roland and Martinelli, Vittorio and Martinelli-Boneschi, Filippo and McCauley, Jacob L and Myhr, Kjell-Morten and Naldi, Paola and Olsson, Tomas and Oturai, Annette and Pericak-Vance, Margaret A and Perla, Franco and Reunanen, Mauri and Saarela, Janna and Saker-Delye, Safa and Salvetti, Marco and Sellebjerg, Finn and Sørensen, Per Soelberg and Spurkland, Anne and Stewart, Graeme and Taylor, Bruce and Tienari, Pentti and Winkelmann, Juliane and Zipp, Frauke and Ivinson, Adrian J and Haines, Jonathan L and Sawcer, Stephen and DeJager, Philip and Hauser, Stephen L and Oksenberg, Jorge R and Wellcome Trust Case Control Consor and Int Multiple Sclerosis Genetics Co and International Multiple Sclerosis Genetics Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 854 - 865
Journal Article
Scientific Reports, ISSN 2045-2322, 09/2016, Volume 6, Issue 1, p. 33735
Sequencing large number of individuals, which is often needed for population genetics studies, is still economically challenging despite falling costs of Next... 
DISEASES | RARE VARIANTS | EXOMES | MULTIDISCIPLINARY SCIENCES | Filters | Genotyping | Gene frequency | Alleles | Population studies | Single-nucleotide polymorphism | Population genetics | Deoxyribonucleic acid--DNA | DNA sequencing
Journal Article
Journal of Translational Medicine, ISSN 1479-5876, 03/2018, Volume 16, Issue 1, pp. 80 - 9
Background: The etiopathology of multiple sclerosis (MS) is believed to include genetic and environmental factors. Human leukocyte antigen (HLA) alleles, in... 
Journal Article
Journal Article
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, ISSN 1590-1874, 07/2019, pp. 1 - 4
Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons. The hexanucleotide repeat expansion in C9orf72 gene... 
Motor neurons | Statistical analysis | Prader-Willi syndrome | Amyotrophic lateral sclerosis | Degeneration | Regulatory sequences | Printing industry
Journal Article
by Antel, Jack and Ban, Maria and Baranzini, Sergio and Barcellos, Lisa and Barizzone, Nadia and Beecham, Ashley and Berge, Tone and Bernardinelli, Luisa and Booth, David and Bos, Steffan and Buck, Dorothea and Butkiewicz, Mariusz and Celius, Elisabeth G and Comabella, Manuel and Compston, Alastair and Dedham, Katrina and Cotsapas, Chris and D’ Alfonso, Sandra and De Jager, Phil and Dubois, Benedicte and Duquette, Pierre and Fontaine, Bertrand and Gasperi, Christiane and Gil, Elia and Goris, An and Gourraud, Pierre Antoine and Graetz, Christiane and Gyllenberg, Alexandra and Hadjigeorgiou, Georgios and Hafler, David and Hribko, Deanna and Haines, Jonathan and Harbo, Hanne and Hauser, Stephen and Warto, Shannon and Hawkins, Clive and Hemmer, Bernhard and Henry, Roland and Hintzen, Rogier and Horakova, Dana and Ivinson, Adrian and Howard, Melissa and Jelcic, Ilijas and Kaskow, Belinda and Kira, Jun-Ichi and Kleinova, Pavlina and Kockum, Ingrid and Kucerova, Karolina and Lill, Christina and Luessi, Felix and Malhotra, Sunny and Martin, Roland and Martinelli, Filippo and Matsushita, Takuya and McCabe, Cristin and McCauley, Jacob and Mescheriakkova, Julia and Mitrovic, Mitja and Moen, Stine-Marit and Montalban, Xavier and Muhlau, Mark and Nakmura, Yuri and Oksenberg, Jorge and Olsson, Tomas and Oturai, Annette and Palotie, Aarno and Patsopoulos, Nikolaos and Pavlicova, Jana and Pericak-Vance, Peggy and Piehl, Fredrik and Rebeix, Isabelle and Rioux, John and Saarela, Janna and Sawcer, Stephen and Sellebjerg, Finn and Sondergaard, Helle Bach and Sorensen, Per Soelberg and Sospedra, Mireia and Spurkland, Anne and Stewart, Graeme and Taylor, Bruce and Uitterlinden, Andre and Van Duijn, Cornelia and Zipp, Frauke and Int Multiple Sclerosis Genetics Co
Neuron, ISSN 0896-6273, 10/2016, Volume 92, Issue 2, pp. 333 - 335
A recent study by claims that the low-frequency variant p.Arg415Gln is sufficient to cause multiple sclerosis in certain individuals and determines a patient’s... 
CYP27B1 GENE | NO EVIDENCE | HUMAN-DISEASE | VARIANTS | NEUROSCIENCES | Multiple sclerosis | Glutamine | Consortia | Genomes | Stratigraphy | Genealogy | Meta-analysis
Journal Article
by Liu, Kui and Li, Quan-Zhen and Delgado-Vega, Angelica M and Abelson, Anna-Karin and Sánchez, Elena and Kelly, Jennifer A and Li, Li and Liu, Yang and Zhou, Jinchun and Yan, Mei and Ye, Qiu and Liu, Shenxi and Xie, Chun and Zhou, Xin J and Chung, Sharon A and Pons-Estel, Bernardo and Witte, Torsten and De Ramón, Enrique and Bae, Sang-Cheol and Barizzone, Nadia and Sebastiani, Gian Domenico and Merrill, Joan T and Gregersen, Peter K and Gilkeson, Gary G and Kimberly, Robert P and Vyse, Timothy J and Kim, Il and D'Alfonso, Sandra and Martin, Javier and Harley, John B and Criswell, Lindsey A and Wakeland, Edward K and Alarcón-Riquelme, Marta E and Mohan, Chandra and Danieli, Maria Giovanna and Galeazzi, Mauro and Querini, Patrizia Rovere and Migliaresi, Sergio and Scherbarth, Hugo R and Lopez, Jorge A and Motta, Estela L and Gamron, Susana and Drenkard, Cristina and Menso, Emilia and Allievi, Alberto and Tate, Guillermo A and Presas, José L and Palatnik, Simon A and Abdala, Marcelo and Bearzotti, Mariela and Alvarellos, Alejandro and Caeiro, Francisco and Bertoli, Ana and Paira, Sergio and Roverano, Susana and Graf, Cesar E and Bertero, Estela and Caprarulo, Cesar and Buchanan, Griselda and Guillerón, Carolina and Grimaudo, Sebastian and Manni, Jorge and Catoggio, Luis J and Soriano, Enrique R and Santos, Carlos D and Prigione, Cristina and Ramos, Fernando A and Navarro, Sandra M and Berbotto, Guillermo A and Jorfen, Marisa and Romero, Elisa J and Garcia, Mercedes A and Marcos, Juan C and Marcos, Ana I and Perandones, Carlos E and Eimon, Alicia and Battagliotti, Cristina G and Armadi-Simab, K and Gross, Wolfgang L and Gromnica-Ihle, Erika and Peter, Hans-Hartmut and Manger, Karin and Schnarr, Sebastian and Zeidler, Henning and Schmidt, Reinhold E and Ortego, Norberto and Callejas, José L and Jiménez-Alonso, Juan and Sabio, Mario and Sánchez-Román, Julio and Garcia-Hernandez, Francisco J and Camps, Mayte and López-Nevot, Miguel Angel and González-Escribano, Maria F and Langefeld, Carl and Tsao, Betty and Jacob, Chaim and Italian Collaborative Grp and Profile Study Grp and Spanish Collaborative Grp and Argentinian Collaborative Grp and German Collaborative Grp and SLEGEN Consortium and Italian Collaborative Group and Argentinian Collaborative Group and Profile Study Group and German Collaborative Group and Spanish Collaborative Group and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
Journal of Clinical Investigation, ISSN 0021-9738, 04/2009, Volume 119, Issue 4, pp. 911 - 923
Journal Article