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Date: 2016
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1346542
Description: Fryns syndrome is an autosomal recessive condition characterized by congenital diaphragmatic hernia (CDH), dysmorphic facial features, distal digital hypoplasia, and other associated malformations, an... More
Reviewed: Reviewed
Date: 2015
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1331502
Description: Human genetic and animal studies have implicated the costimulatory molecule CD40 in the development of multiple sclerosis (MS). We investigated the cell specific gene and protein expression variation ... More
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Creators: Moayyeri, Alireza | Hsu, Yi-Hsiang | Smith, Albert V. | Cooper, Cyrus | Kung, Annie Wai Chee | Lips, Paul | Alen, Markku | Attia, John | Luisa Brandi, Maria | de Groot, Lisette C. P. G. M. | Lehtimäeki, Terho | Riancho, José A. | Campbell, Harry | Pye, Stephen R. | Liu, Yongmei | Harris, Tamara B. | Akesson, Kristina | Karlsson, Magnus | Lee, Jong-Young | Wallaschofski, Henri | Duncan, Emma L. | O'Neill, Terence W. | Gudnason, Vilmundur | Spector, Timothy D. | Leo, Paul J. | Rousseau, François | Orwoll, Eric | Cummings, Steven R. | Wareham, Nick J. | Rivadeneira, Fernando | Uitterlinden, Andre G. | Prince, Richard L. | Kiel, Douglas P. | Reeve, Jonathan | Kaptoge, Stephen K. | Teumer, Alexander | Hwang, Joo-Yeon | Ohlsson, Claes | McGuigan, Fiona | Minster, Ryan L. | Hayward, Caroline | Olmos, José M. | Karasik, David | Lyytikäeinen, Leo-Pekka | Lewis, Joshua R. | Swart, Karin M. A. | Masi, Laura | Oldmeadow, Chris | Holliday, Elizabeth G. | Cheng, Sulin | van Schoor, Natasja M. | Harvey, Nicholas C. | Kruk, Marcin | Estrada, Karol | del Greco M, Fabiola | Igl, Wilmar | Trummer, Olivia | Grigoriou, Efi | Luben, Robert | Liu, Ching-Ti | Zhou, Yanhua | Oei, Ling | Medina-Gomez, Carolina | Zmuda, Joseph | Xiao, Su-Mei | Tranah, Greg | Brown, Suzanne J. | Williams, Frances M. | Soranzo, Nicole | Jakobsdottir, Jphanna | Siggeirsdottir, Kristin | Holliday, Kate L. | Hannemann, Anke | Go, Min Jin | Garcia, Melissa | Nielson, Carrie | Polasek, Ozren | Laaksonen, Marika | Zhu, Kun | Enneman, Anke W. | McEvoy, Mark | Peel, Roseanne | Sham, Pak Chung | Jaworski, Maciej | Johansson, Åsa | Hicks, Andrew A. | Srikanth, Priya | Pludowski, Pawel | Scott, Rodney | Dhonukshe-Rutten, Rosalie A. M. | van der Velde, Nathalie | Käehöenen, Mika | Viikari, Jorma S. | Sieväenen, Harri | Raitakari, Olli T. | González-Macías, Jesús | Hernández, Jose L. | Giroux, Sylvie | Mellströem, Dan | Ljunggren, Östen | Cho, Yoon Shin | Vöelker, Uwe | Nauck, Matthias | Homuth, Georg | Vöelzke, Henry | Haring, Robin | Brown, Matthew A. | McCloskey, Eugene | Wilson, Scott G. | Nicholson, Geoffrey C. | Eastell, Richard | Eisman, John A. | Jones, Graeme | Reid, Ian R. | Dennison, Elaine M. | Wark, John | Boonen, Steven | Vanderschueren, Dirk | Wu, Frederick C. W. | Zheng, Hou-Feng | Aspelund, Thor | Richards, J. Brent | Bauer, Doug | Hofman, Albert | Khaw, Kay-Tee | Dedoussis, George | Obermayer-Pietsch, Barbara | Gyllensten, Ulf | Pramstaller, Peter P. | Lorenc, Roman S.
Date: 2014
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1302575
Description: Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives ... More
Reviewed: Reviewed
Creators: Springelkamp, Henriët | Höhn, René | Luo, Xiaoyan | Deloukas, Panos | Duncanson, Audrey | Jankowski, Janusz | Markus, Hugh S. | Mathew, Christopher G. | Palmer, Colin N. A. | Plomin, Robert | Rautanen, Anna | Sawcer, Stephen J. | Trembath, Richard C. | Ramdas, Wishal D. | Viswanathan, Ananth C. | Wood, Nicholas W. | Spencer, Chris C. A. | Band, Gavin | Bellenguez, Céline | Freeman, Colin | Hellenthal, Garrett | Giannoulatou, Eleni | Pirinen, Matti | Pearson, Richard | Vithana, Eranga | Strange, Amy | Su, Zhan | Vukcevic, Damjan | Donnelly, Peter | Langford, Cordelia | Hunt, Sarah E. | Edkins, Sarah | Gwilliam, Rhian | Blackburn, Hannah | Bumpstead, Suzannah J. | Nongpiur, Monisha E. | Droniv, Serge | Gillman, Matthew | Gray, Emma | Hammond, Naomi | Jayakumar, Alagurevathi | McCann, Owen T. | Liddle, Jennifer | Potter, Simon C. | Ravindrarajah, Alagurevathi | Rocketts, Michelle | Montgomery, Grant W. | Waller, Matthew | Weston, Paul | Widaa, Sara | Whittaker, Pamela | Barroso, Ines | Blackwell, Jenefer M. | Brown , Matthew A. | Corvin, Aiden | Xu, Liang | Spencer , Chris C. A. | Spector, Timothy D. | Mirshahi, Alireza | Saw, Seang-Mei | Vingerling, Johannes R. | Teo, Yik-Ying | Haines, Jonathan L. | Wolfs, Roger C. W. | Lemij, Hans G. | Tai, E-Shyong | Mountain, Jenny E. | Jansonius, Nomdo M. | Jonas, Jost B. | Hammond, CJ | Gharahkhani, Puya | Lu, Yi | Amin, Najaf | Mishra, Aniket | Karssen, Lennart C. | Sim, Kar-seng | van Leeuwen, Elisabeth M. | Iglesias, Adriana I. | Verhoeven, Virginie J. M. | Hauser, Michael A. | Loon, Seng-Chee | Despriet, Dominiek D. G. | Nag, Abhishek | Venturini, Cristina | Hysi, Pirro G. | Sanfilippo, Paul G. | Schillert, Arne | Kang, Jae H. | Landers, John | Jonasson, Fridbert | Cree, Angela J. | van Koolwijk, Leonieke M. E. | Rivadeneira, Fernando | Souzeau, Emmanuelle | Jonsson, Vesteinn | Khor, Chiea-Cheun | Menon, Geeta | Mitchell, Paul | Wang, Jie Jin | Rochtchina, Elena | Attia, John | Scott, Rodney | Holliday, Elizabeth G. | Wong, Tien-Yin | Baird, Paul N. | Xie, Jing | Loomis, Stephanie J. | Inouye, Michael | Viswanathan, Ananth | Sim, Xueling | Weinreb, Robert N. | de Jong, Paulus T. V. M. | Oostra, Ben A. | Uitterlinden, André G. | Hofman, Albert | Ennis, Sarah | Thorsteinsdottir, Unnu | Bailey, Jessica N. Cooke | Burdon, Kathryn | Allingham, R. Band | Brilliant, Murray H. | Budenz, Donald L. | Christen, William G. | Fingert, John | Friedman, David S. | Gaasterland, Douglas | Gaasterland, Terry | Gibson, Jane | Hauder, Michael A. | Kang, Jae Hee | Kraft, Peter | Lee, Richard K. | Lichter, Paul R. | Liu, Yutao | Moroi, Sayoko E. | Pasquale, Louis R. | Thorleifsson, Gudmar | Pericak-Vance, Margaret A. | Realini, Anthony | Richards, Julia E. | Schuman, Joel S. | Scott, William K. | Singh, Kuldev | Sit, Arthur J. | Vollrath, Douglas | Wiggs, Janey L. | Janssen, Sarah F. | Wollstein, Gadi | Zack, Donald J. | Zhang, Kang | Bramon, Elvira | Brown, Matthew A. | Casas, Juan P.
Date: 2014
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1302885
Description: Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a m... More
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Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1311581
Description: Genome-wide association studies (GWAS) have identified around 60 common variants associated with multiple sclerosis (MS), but these loci only explain a fraction of the heritability of MS. Some missing... More
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Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1295197
Description: Multiple sclerosis (MS) is a common chronic inflammatory disease of the central nervous system. Susceptibility to the disease is affected by both environmental and genetic factors. Genetic factors inc... More
Reviewed: Reviewed
Creators: 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
Date: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1326050
Description: Background: Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for ... More
Reviewed: Reviewed
Creators: Bellenguez, Céline | Bevan, Steve | Band, Gavin | Syme, Paul D. | Malik, Rainer | Pera, Joanna | Norrving, Bo | Lemmens, Robin | Freeman, Colin | Schanz, Renata | James, Tom | Poole, Deborah | Gschwendtner, Andreas | Murphy, Lee | Segal, Helen | Cortellini, Lynelle | Cheng, Yu-Ching | Woo, Daniel | Nalls, Michael A. | Müller-Myhsok, Bertram | Meisinger, Christa | Seedorf, Udo | Ross-Adams, Helen | Spencer, Chris C. A. | Boonen, Steven | Wloch-Kopec, Dorota | Valant, Valerie | Slark, Julia | Furie, Karen | Delavaran, Hossein | Langford, Cordelia | Deloukas, Panos | Edkins, Sarah | Hunt, Sarah | Burgess, Annette I. | Gray, Emma | Dronov, Serge | Peltonen, Leena | Gretarsdottir, Solveig | Thorleifsson, Gudmar | Thorsteinsdottir, Unnur | Stefansson, Kari | Boncoraglio, Giorgio B. | Parati, Eugenio A. | Attia, John | Pirinen, Matti | Holliday, Elizabeth | Levi, Chris | Franzosi, Maria-Grazia | Goel, Anuj | Helgadottir, Anna | Blackwell, Jenefer M. | Bramon, Elvira | Brown, Matthew A. | Casas, Juan P. | Corvin, Aiden | Jackson, Caroline A. | Duncanson, Audrey | Jankowski, Janusz | Mathew, Christopher G. | Palmer, Colin N. A. | Plomin, Robert | Rautanen, Anna | Sawcer, Stephen J. | Trembath, Richard C. | Viswanathan, Ananth C. | Wood, Nicholas W. | Traylor, Matthew | Worrall, Bradford B. | Kittner, Steven J. | Mitchell, Braxton D. | Kissela, Brett | Meschia, James F. | Thijs, Vincent | Lindgren, Arne | Macleod, Mary Joan | Slowik, Agnieszka | Walters, Matthew | Strange, Amy | Rosand, Jonathan | Sharma, Pankaj | Farrall, Martin | Sudlow, Cathie L. M. | Rothwell, Peter M. | Dichgans, Martin | Donnelly, Peter | Markus, Hugh S. | Su, Zhan
Date: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1325463
Description: Genetic factors have been implicated in stroke risk, but few replicated associations have been reported. We conducted a genome-wide association study (GWAS) for ischemic stroke and its subtypes in 3,5... More
Reviewed: Reviewed
Date: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1320827
Description: Multiple sclerosis (MS) is an inflammatory demyelinating disease affecting the central nervous system. Although the exact pathogenesis of MS is unknown, it is generally considered to be an autoimmune ... More
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Date: 2011
Keyword: SNP | Illuminus | genes
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1039569
Description: Illumina's Infinium SNP BeadChips are extensively used in both small and large-scale genetic studies. A fundamental step in any analysis is the processing of raw allele A and allele B intensities from... More
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Date: 2011
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/939604
Description: Objective: To perform a 1-stage meta-analysis of genome-wide association studies (GWAS) of multiple sclerosis (MS) susceptibility and to explore functional consequences of new susceptibility loci. Met... More
Reviewed: Reviewed
Date: 2011
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1039565
Description: Multiple sclerosis (MS) is a debilitating, chronic demyelinating disease of the central nervous system affecting over 2 million people worldwide. The TAM family of receptor tyrosine kinases (T̲YRO3, A... More
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Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1039576
Description: We conducted an association study across the human leukocyte antigen (HLA) complex to identify loci associated with multiple sclerosis (MS). Comparing 1927 SNPs in 1618 MS cases and 3413 controls of E... More
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Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1039757
Description: Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 a... More
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