日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Improving maternal and PeRinatal Outcomes aMong wOmen with and without obEsity (PROMOTE): protocol for a prospective pregnancy cohort study

改善肥胖和非肥胖女性的孕产妇和围产期结局(PROMOTE):一项前瞻性妊娠队列研究方案

Samarawickrama Lucewicz, Ania; Rhou, Yoon Ji Jina; Melov, Sarah; Elhindi, James; Patel, Shrujna; Flood, Victoria; Smith, Ben J; Usherwood, Tim; McNab, Justin; McClean, Mark; Cheung, Ngai Wah; Pryce, Karena; Pasupathy, Dharmintra

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

IFITM5 基因 c.-14C>T 突变导致在人骨中表达的转录本延长,并引起不同程度的 V 型成骨不全表型。

Lazarus, Syndia; McInerney-Leo, Aideen M; McKenzie, Fiona A; Baynam, Gareth; Broley, Stephanie; Cavan, Barbra V; Munns, Craig F; Pruijs, Johannes Egbertus Hans; Sillence, David; Terhal, Paulien A; Pryce, Karena; Brown, Matthew A; Zankl, Andreas; Thomas, Gethin; Duncan, Emma L

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

通过对免疫相关基因位点进行高密度基因分型,鉴定强直性脊柱炎的多个风险变异

Cortes Adrian, Hadler Johanna, Pointon Jenny P, Robinson Philip C, Karaderi Tugce, Leo Paul, Cremin Katie, Pryce Karena, Harris Jessica, Lee Seunghun, Joo Kyung Bin, Shim Seung-Cheol, Weisman Michael, Ward Michael, Zhou Xiaodong, Garchon Henri-Jean, Chiocchia Gilles, Nossent Johannes, Lie Benedicte A, Førre Øystein, Tuomilehto Jaakko, Laiho Kari, Jiang Lei, Liu Yu, Wu Xin, Bradbury Linda A, Elewaut Dirk, Burgos-Vargas Ruben, Stebbings Simon, Appleton Louise, Farrah Claire, Lau Jonathan, Kenna Tony J, Haroon Nigil, Ferreira Manuel A, Yang Jian, Mulero Juan, Fernandez-Sueiro Jose Luis, Gonzalez-Gay Miguel A, Lopez-Larrea Carlos, Deloukas Panos, Donnelly Peter, Bowness Paul, Gafney Karl, Gaston Hill, Gladman Dafna D, Rahman Proton, Maksymowych Walter P, Xu Huji, Crusius J Bart A, van der Horst-Bruinsma Irene E, Chou Chung-Tei, Valle-Oñate Raphael, Romero-Sánchez Consuelo, Hansen Inger Myrnes, Pimentel-Santos Fernando M, Inman Robert D, Videm Vibeke, Martin Javier, Breban Maxime, Reveille John D, Evans David M, Kim Tae-Hwan, Wordsworth Bryan Paul, Brown Matthew A

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

利用极端截断选择进行的全基因组关联研究发现了影响骨矿物质密度和骨折风险的新基因

Duncan, Emma L; Danoy, Patrick; Kemp, John P; Leo, Paul J; McCloskey, Eugene; Nicholson, Geoffrey C; Eastell, Richard; Prince, Richard L; Eisman, John A; Jones, Graeme; Sambrook, Philip N; Reid, Ian R; Dennison, Elaine M; Wark, John; Richards, J Brent; Uitterlinden, Andre G; Spector, Tim D; Esapa, Chris; Cox, Roger D; Brown, Steve D M; Thakker, Rajesh V; Addison, Kathryn A; Bradbury, Linda A; Center, Jacqueline R; Cooper, Cyrus; Cremin, Catherine; Estrada, Karol; Felsenberg, Dieter; Glüer, Claus-C; Hadler, Johanna; Henry, Margaret J; Hofman, Albert; Kotowicz, Mark A; Makovey, Joanna; Nguyen, Sing C; Nguyen, Tuan V; Pasco, Julie A; Pryce, Karena; Reid, David M; Rivadeneira, Fernando; Roux, Christian; Stefansson, Kari; Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Tichawangana, Rumbidzai; Evans, David M; Brown, Matthew A

Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease

1q32 和 STAT3 变异与强直性脊柱炎的关联提示其与克罗恩病存在遗传重叠

Danoy, Patrick; Pryce, Karena; Hadler, Johanna; Bradbury, Linda A; Farrar, Claire; Pointon, Jennifer; Ward, Michael; Weisman, Michael; Reveille, John D; Wordsworth, B Paul; Stone, Millicent A; Maksymowych, Walter P; Rahman, Proton; Gladman, Dafna; Inman, Robert D; Brown, Matthew A