未登录 Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability Zhang, Chaofan; Jolly, Angad; Shayota, Brian J.; Mazzeu, Juliana F.; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; de Lima, Ariadne Ramalho; Ferreira, Barbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D.; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N.; Potocki, Lorraine; Chung, Wendy K.; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A.; Mason, Kati; Pollack, Lynda C.; McConkie-Rosell, Allyn; Kelly, Wei; McDonald, Marie; Hauser, Natalie S.; Leahy, Peter; Powell, Cynthia M.; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R.; Odone Filho, Vicente; Muzny, Donna M.; Gibbs, Richard A.; Posey, Jennifer E.; Liu, Pengfei; Lupski, James R.; Sutton, V. Reid; Carvalho, Claudia M. B. 分享 收藏
The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management Pollock, Lily; Ridout, Ashley; Teh, James; Nnadi, Colin; Stavroulias, Dionisios; Pitcher, Alex; Blair, Edward; Wordsworth, Paul; Vincent, Tonia L. 分享 收藏
Variable skeletal phenotypes associated with biallelic variants in PRKG2 与PRKG2中的双等位基因变体相关的可变骨骼表型 Pagnamenta, Alistair T.; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P.; Toosi, Mehran B.; Calder, Alistair D.; Karimiani, Ehsan G.; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskaer, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E.; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C. 分享 收藏
Functional Genomic Analysis of a RUNX3 Polymorphism Associated With Ankylosing Spondylitis Vecellio, Matteo; Chen, Liye; Cohen, Carla J.; Cortes, Adrian; Li, Yan; Bonham, Sarah; Selmi, Carlo; Brown, Matthew A.; Fischer, Roman; Knight, Julian C.; Wordsworth, B. Paul 分享 收藏
Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci Huang, Xiu-Feng; Li, Zhixiu; De Guzman, Erika; Robinson, Philip; Gensler, Lianne; Ward, Michael M.; Rahbar, Mohammad Hossein; Lee, MinJae; Weisman, Michael H.; Macfarlane, Gary J.; Jones, Gareth T.; Klingberg, Eva; Forsblad-d'Elia, Helena; McCluskey, Peter; Wakefield, Denis; Coombes, Jeff S.; Singh, Maria A. Fiatarone; Mavros, Yorgi; Vlahovich, Nicole; Hughes, David C.; Marzo-Ortega, Helena; Van der Horste-Bruinsma, Irene; O'Shea, Finbar; Martin, Tammy M.; Rosenbaum, James; Breban, Maxime; Jin, Zi-Bing; Leo, Paul; Reveille, John D.; Wordsworth, B. Paul; Brown, Matthew A. 分享 收藏
Histone H3K27me3 demethylases regulate human Th17 cell development and effector functions by impacting on metabolism 组蛋白H3K27me3去甲基化酶通过影响代谢调节人Th17细胞发育和效应子功能 Cribbs, Adam P.; Terlecki-Zaniewicz, Stefan; Philpott, Martin; Baardman, Jeroen; Ahern, David; Lindow, Morten; Obad, Susanna; Oerum, Henrik; Sampey, Brante; Mander, Palwinder K.; Penn, Henry; Wordsworth, Paul; Bowness, Paul; de Winther, Menno; Prinjha, Rab K.; Feldmann, Marc; Oppermann, Udo 分享 收藏
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Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia 成骨不全症，X连锁低磷血症和纤维异常增殖症的英国成年人的健康相关生活质量和成本效用模拟 Forestier-Zhang, Lydia; Watts, Laura; Turner, Alison; Teare, Harriet; Kaye, Jane; Barrett, Joe; Cooper, Cyrus; Eastell, Richard; Wordsworth, Paul; Javaid, Muhammad K.; Pinedo-Villanueva, Rafael 分享 收藏
The RUDY study platform - a novel approach to patient driven research in rare musculoskeletal diseases Javaid, M. K.; Forestier-Zhang, L.; Watts, L.; Turner, A.; Ponte, C.; Teare, H.; Gray, D.; Gray, N.; Popert, R.; Hogg, J.; Barrett, J.; Pinedo-Villanueva, R.; Cooper, C.; Eastell, R.; Bishop, N.; Luqmani, R.; Wordsworth, P.; Kaye, J. 分享 收藏
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Long-term effects of secukinumab on MRI findings in relation to clinical efficacy in subjects with active ankylosing spondylitis: an observational study Baraliakos, Xenofon; Borah, Babul; Braun, Juergen; Baeten, Dominique; Laurent, Didier; Sieper, Joachim; Emery, Paul; McInnes, Iain B.; van Laar, Jacob M.; Wordsworth, Paul; Wollenhaupt, Juergen; Kellner, Herbert; Colin, Laurence; Vandenhende, Francois; Radford, Kath; Hueber, Wolfgang 分享 收藏
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CBP30, a selective CBP/p300 bromodomain inhibitor, suppresses human Th17 responses Hammitzsch, Ariane; Tallant, Cynthia; Fedorov, Oleg; O'Mahony, Alison; Brennan, Paul E.; Hay, Duncan A.; Martinez, Fernando O.; Al-Mossawi, M. Hussein; de Wit, Jelle; Vecellio, Matteo; Wells, Christopher; Wordsworth, Paul; Mueller, Susanne; Knapp, Stefan; Bowness, Paul 分享 收藏
Association study of genes related to bone formation and resorption and the extent of radiographic change in ankylosing spondylitis Cortes, A.; Maksymowych, W. P.; Wordsworth, B. P.; Inman, R. D.; Danoy, P.; Rahman, P.; Stone, M. A.; Corr, M.; Gensler, Lianne S.; Gladman, D.; Morgan, A.; Marzo-Ortega, H.; Ward, M. M.; Learch, T. J.; Reveille, J. D.; Brown, M. A.; Weisman, M. H. 分享 收藏
UNITED KINGDOM RESEARCH REGISTRY FOR RARE BONE, JOINT AND BLOOD VESSEL DISEASES (RUDY): ANALYSIS OF THE FIRST 133 PATIENTS Ponte, C.; Gray, D.; Barrett, J.; Turner, A.; Teare, H.; Hogg, J.; Gray, N.; Harnett, E.; Ropert, R.; Sharma, V.; Lang, G.; Wordsworth, P.; Javaid, K.; Luqmani, R. A. 分享 收藏
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