未登录.png)
分享.png)
收藏分享 收藏 Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
Darin, Niklas; Reid, Emma; Prunetti, Laurence; Samuelsson, Lena; Husain, Ralf A.; Wilson, Matthew; El Yacoubi, Basma; Footitt, Emma; Chong, W. K.; Wilson, Louise C.; Prunty, Helen; Pope, Simon; Heales, Simon; Lascelles, Karine; Champion, Mike; Wassmer, Evangeline; Veggiotti, Pierangelo; de Crecy-Lagard, Valerie; Mills, Philippa B.; Clayton, Peter T. 分享 收藏 分享 收藏 CTNND2-a candidate gene for reading problems and mild intellectual disabilityHofmeister, Wolfgang; Nilsson, Daniel; Topa, Alexandra; Anderlid, Britt-Marie; Darki, Fahimeh; Matsson, Hans; Paez, Isabel Tapia; Klingberg, Torkel; Samuelsson, Lena; Wirta, Valtteri; Vezzi, Francesco; Kere, Juha; Nordenskjold, Magnus; Lundberg, Elisabeth Syk; Lindstrand, Anna 分享 收藏 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity15个新的银屑病易感位点的鉴定突出了先天免疫的作用Tsoi, Lam C.; Spain, Sarah L.; Knight, Jo; Ellinghaus, Eva; Stuart, Philip E.; Capon, Francesca; Ding, Jun; Li, Yanming; Tejasvi, Trilokraj; Gudjonsson, Johann E.; Kang, Hyun M.; Allen, Michael H.; McManus, Ross; Novelli, Giuseppe; Samuelsson, Lena; Schalkwijk, Joost; Stahle, Mona; Burden, A. David; Smith, Catherine H.; Cork, Michael J.; Estivill, Xavier; Bowcock, Anne M.; Krueger, Gerald G.; Weger, Wolfgang; Worthington, Jane; Tazi-Ahnini, Rachid; Nestle, Frank O.; Hayday, Adrian; Hoffmann, Per; Winkelmann, Juliane; Wijmenga, Cisca; Langford, Cordelia; Edkins, Sarah; Andrews, Robert; Blackburn, Hannah; Strange, Amy; Band, Gavin; Pearson, Richard D.; Vukcevic, Damjan; Spencer, Chris C. A.; Deloukas, Panos; Mrowietz, Ulrich; Schreiber, Stefan; Weidinger, Stephan; Koks, Sulev; Kingo, Kuelli; Esko, Tonu; Metspalu, Andres; Lim, Henry W.; Voorhees, John J.; Weichenthal, Michael; Wichmann, H. Erich; Chandran, Vinod; Rosen, Cheryl F.; Rahman, Proton; Gladman, Dafna D.; Griffiths, Christopher E. M.; Reis, Andre; Kere, Juha; Nair, Rajan P.; Franke, Andre; Barker, Jonathan N. W. N.; Abecasis, Goncalo R.; Elder, James T.; Trembath, Richard C.; Duffin, Kristina Callis; Helms, Cindy; Goldgar, David; Li, Yun; Paschall, Justin; Malloy, Mary J.; Pullinger, Clive R.; Kane, John P.; Gardner, Jennifer; Perlmutter, Amy; Miner, Andrew; Feng, Bing Jian; Hiremagalore, Ravi; Ike, Robert W.; Christophers, Enno; Henseler, Tilo; Ruether, Andreas; Schrodi, Steven J.; Prahalad, Sampath; Guthery, Stephen L.; Fischer, Judith; Liao, Wilson; Kwok, Pui; Menter, Alan; Lathrop, G. Mark; Wise, C.; Begovich, Ann B.; Onoufriadis, Alexandros; Weale, Michael E.; Hofer, Angelika; Salmhofer, Wolfgang; Wolf, Peter; Kainu, Kati; Saarialho-Kere, Ulpu; Suomela, Sari; Badorf, Petra; Hueffmeier, Ulrike; Kurrat, Werner; Kuester, Wolfgang; Lascorz, Jesus; Moessner, Rotraut; Schuermeier-Horst, Funda; Staender, Markward; Traupe, Heiko; Bergboer, Judith G. M.; den Heijer, Martin; van de Kerkhof, Peter C.; Zeeuwen, Patrick L. J. M.; Barnes, Louise; Campbell, Linda E.; Cusack, Caitriona; Coleman, Ciara; Conroy, Judith; Ennis, Sean; Fitzgerald, Oliver; Gallagher, Phil; Irvine, Alan D.; Kirby, Brian; Markham, Trevor; McLean, W. H. Irwin; McPartlin, Joe; Rogers, Sarah F.; Ryan, Anthony W.; Zawirska, Agnieszka; Giardina, Emiliano; Lepre, Tiziana; Perricone, Carlo; Martin-Ezquerra, Gemma; Pujol, Ramon M.; Riveira-Munoz, Eva; Inerot, Annica; Naluai, Asa T.; Mallbris, Lotus; Wolk, Katarina; Leman, Joyce; Barton, Anne; Warren, Richard B.; Young, Helen S.; Ricano-Ponce, Isis; Trynka, Gosia; Pellett, Fawnda J.; Henschel, Andrew; Aurand, Marin; Bebo, Bruce; Gieger, Christian; Illig, Thomas; Moebus, Susanne; Joeckel, Karl-Heinz; Erbe, Raimund; Donnelly, Peter; Peltonen, Leena; Blackwell, Jenefer M.; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.; Corvin, Aiden; Craddock, Nicholas; Duncanson, Audrey; Jankowski, Janusz; Markus, Hugh S.; Mathew, Christopher G.; McCarthy, Mark I.; Palmer, Colin N. A.; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J.; Samani, Nilesh; Viswanathan, Ananth C.; Wood, Nicholas W.; Bellenguez, Celine; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Su, Zhan; Hunt, Sarah E.; Gwilliam, Rhian; Bumpstead, Suzannah J.; Dronov, Serge; Gillman, Matthew; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T.; Liddle, Jennifer; Perez, Marc L.; Potter, Simon C.; Ravindrarajah, Radhi; Ricketts, Michelle; Waller, Matthew; Weston, Paul; Widaa, Sara; Whittaker, Pamela 分享 收藏 分享 收藏 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1一项全基因组关联研究确定了新的银屑病易感位点以及hla-c和ERAP1之间的相互作用Strange, Amy; Capon, Francesca; Spencer, Chris C. A.; Knight, Jo; Weale, Michael E.; Allen, Michael H.; Barton, Anne; Band, Gavin; Bellenguez, Celine; 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; Hueffmeier, Ulrike; Hunt, Sarah E.; Irvine, Alan D.; Jankowski, Janusz; Kirby, Brian; Langford, Cordelia; Lascorz, Jesus; Leman, Joyce; Leslie, Stephen; Mallbris, Lotus; Markus, Hugh S.; Mathew, Christopher G.; McLean, W. H. Irwin; McManus, Ross; Moessner, 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.; Stahle, 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, Andre; McVean, Gilean; Evans, David M.; Brown, Matthew A.; Barker, Jonathan N.; Peltonen, Leena; Donnelly, Peter; Trembath, Richard C. 分享 收藏 Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish familiesKainu, Kati; Kivinen, Katja; Zucchelli, Marco; Suomela, Sari; Kere, Juha; Inerot, Annica; Baker, Barbara S.; Powles, Anne V.; Fry, Lionel; Samuelsson, Lena; Saarialho-Kere, Ulpu 分享 收藏 SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGilfillan, Gregor D.; Selmer, Kaja K.; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Marten; Eiklid, Kristin; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald; Sjoholm, Hans; Server, Andres; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R.; Futreal, P. Andrew; Teague, Jon; Edkins, Sarah; Gecz, Jozef; Turner, Gillian; Raymond, F. Lucy; Schwartz, Charles; Stevenson, Roger E.; Undlien, Dag E.; Stromme, Petter 分享 收藏 分享 收藏 分享 收藏 Meta-analysis of genome-wide studies of psoriasis susceptibility reveals linkage to chromosomes 6p21 and 4q28-q31 in caucasian and chinese hans populationSagoo, GS; Tazi-Ahnini, R; Barker, JWN; Elder, JT; Nair, RP; Samuelsson, L; Traupe, H; Trembath, RC; Robinson, DA; Iles, MM 分享 收藏 分享 收藏 Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism mapHewett, D; Samuelsson, L; Polding, J; Enlund, F; Smart, D; Cantone, K; See, CG; Chadha, S; Inerot, A; Enerback, C; Montgomery, D; Christodolou, C; Robinson, P; Matthews, P; Plumpton, M; Dykes, C; Wahlstrom, J; Swanbeck, G; Martinsson, T; Roses, A; Riley, J; Purvis, I 分享 收藏 Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11斯堪的纳维亚受影响的同胞对的全基因组连锁分析支持在5号和11号染色体上存在乳糜泻的易感位点Naluai, ÅT; Nilsson, S; Gudjónsdóttir, AH; Louka, AS; Ascher, H; Ek, J; Hallberg, B; Samuelsson, L; Kristiansson, B; Martinsson, T; Nerman, O; Sollid, LM; Wahlström, J 分享 收藏 分享 收藏 Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest SwedenEnlund, F; Samuelsson, L; Enerbäck, C; Inerot, A; Wahlström, J; Yhr, M; Torinsson, Å; Riley, J; Swanbeck, G; Martinsson, T 分享 收藏 分享 收藏 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
