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Statistical Validation;
Rare Complement Variants Provides Insights into the Molecular Basis;
Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy Osborne, Amy J.; Breno, Matteo; Borsa, Nicolo Ghiringhelli; Bu, Fengxiao; Fremeaux-Bacchi, Veronique; Gale, Daniel P.; van den Heuvel, Lambertus P.; Kavanagh, David; Noris, Marina; Pinto, Sheila; Rallapalli, Pavithra M.; Remuzzi, Giuseppe; de Cordoba, Santiago Rodriguez; Ruiz, Angela; Smith, Richard J. H.; Vieira-Martins, Paula; Volokhina, Elena; Wilson, Valerie; Goodship, Timothy H. J.; Perkins, Stephen J. 分享 收藏
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux (vol 7, 2017) Darlow, John M.; Darlay, Rebecca; Dobson, Mark G.; Stewart, Aisling; Charoen, Pimphen; Southgate, Jennifer; Baker, Simon C.; Xu, Yaobo; Hunziker, Manuela; Lambert, Heather J.; Green, Andrew J.; Santibanez-Koref, Mauro; Sayer, John A.; Goodship, Timothy H. J.; Puri, Prem; Woolf, Adrian S.; Kenda, Rajko B.; Barton, David E.; Cordell, Heather J. 分享 收藏
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux 全基因组连锁和关联研究表明10q26区域是原发性非综合征性膀胱输尿管反流的主要遗传因素 Darlow, John M.; Darlay, Rebecca; Dobson, Mark G.; Stewart, Aisling; Charoen, Pimphen; Southgate, Jennifer; Baker, Simon C.; Xu, Yaobo; Hunziker, Manuela; Lambert, Heather J.; Green, Andrew J.; Santibanez-Koref, Mauro; Sayer, John A.; Goodship, Timothy H. J.; Puri, Prem; Woolf, Adrian S.; Kenda, Rajko B.; Barton, David E.; Cordell, Heather J. 分享 收藏
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland Brocklebank, Vicky; Johnson, Sally; Sheerin, Thomas P.; Marks, Stephen D.; Gilbert, Rodney D.; Tyerman, Kay; Kinoshita, Meredith; Awan, Atif; Kaur, Amrit; Webb, Nicholas; Hegde, Shivaram; Finlay, Eric; Fitzpatrick, Maggie; Walsh, Patrick R.; Wong, Edwin K. S.; Booth, Caroline; Kerecuk, Larissa; Salama, Alan D.; Almond, Mike; Inward, Carol; Goodship, Timothy H.; Sheerin, Neil S.; Marchbank, Kevin J.; Kavanagh, David 分享 收藏
Use of the complement inhibitor Coversin to treat HSCT-associated TMA Goodship, Timothy H. J.; Pinto, Fernando; Weston-Davies, Wynn H.; Silva, Juliana; Nishimura, Jun-ichi; Nunn, Miles A.; Mackie, Ian; Machin, Samuel J.; Palm, Liina; Pryce, Jeremy W.; Chiesa, Robert; Amrolia, Persis; Veys, Paul 分享 收藏
Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference Goodship, Timothy H. J.; Cook, H. Terence; Fakhouri, Fadi; Fervenza, Fernando C.; Fremeaux-Bacchi, Veronique; Kavanagh, David; Nester, Carla M.; Noris, Marina; Pickering, Matthew C.; de Cordoba, Santiago Rodriguez; Roumenina, Lubka T.; Sethi, Sanjeev; Smith, Richard J. H. 分享 收藏
Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease Challis, Rachel C.; Ring, Troels; Xu, Yaobo; Wong, Edwin K. S.; Flossmann, Oliver; Roberts, Ian S. D.; Ahmed, Saeed; Wetherall, Michael; Salkus, Giedrius; Brocklebank, Vicky; Fester, Julian; Strain, Lisa; Wilson, Valerie; Wood, Katrina M.; Marchbank, Kevin J.; Santibanez-Koref, Mauro; Goodship, Timothy H. J.; Kavanagh, David 分享 收藏
A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome Challis, Rachel C.; Araujo, Geisilaine S. R.; Wong, Edwin K. S.; Anderson, Holly E.; Awan, Atif; Dorman, Anthony M.; Waldron, Mary; Wilson, Valerie; Brocklebank, Vicky; Strain, Lisa; Morgan, B. Paul; Harris, Claire L.; Marchbank, Kevin J.; Goodship, Timothy H. J.; Kavanagh, David 分享 收藏
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development Vivante, Asaf; Kleppa, Marc-Jens; Schulz, Julian; Kohl, Stefan; Sharma, Amita; Chen, Jing; Shril, Shirlee; Hwang, Daw-Yang; Weiss, Anna-Carina; Kaminski, Michael M.; Shukrun, Rachel; Kemper, Markus J.; Lehnhardt, Anja; Beetz, Rolf; Sanna-Cherchi, Simone; Verbitsky, Miguel; Gharavi, All G.; Stuart, Helen M.; Feather, Sally A.; Goodship, Judith A.; Goodship, Timothy H. J.; Woolf, Adrian S.; Westra, Sjirk J.; Doody, Daniel P.; Bauer, Stuart B.; Lee, Richard S.; Adam, Rosalyn M.; Lu, Weining; Reutter, Heiko M.; Kehinde, Elijah O.; Mancini, Erika J.; Lifton, Richard P.; Tasic, Velibor; Lienkamp, Soeren S.; Jueppner, Harald; Kispert, Andreas; Hildebrandt, Friedhelm 分享 收藏
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Efficacy and safety of eculizumab in atypical hemolytic uremic syndrome from 2-year extensions of phase 2 studies Licht, Christoph; Greenbaum, Larry A.; Muus, Petra; Babu, Sunil; Bedrosian, Camille L.; Cohen, David J.; Delmas, Yahsou; Douglas, Kenneth; Furman, Richard R.; Gaber, Osama A.; Goodship, Timothy; Herthelius, Maria; Hourmant, Maryvonne; Legendre, Christophe M.; Remuzzi, Giuseppe; Sheerin, Neil; Trivelli, Antonella; Loirat, Chantal 分享 收藏
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Urinary Tract Effects of HPSE2 Mutations Stuart, Helen M.; Roberts, Neil A.; Hilton, Emma N.; McKenzie, Edward A.; Daly, Sarah B.; Hadfield, Kristen D.; Rahal, Jeffery S.; Gardiner, Natalie J.; Tanley, Simon W.; Lewis, Malcolm A.; Sites, Emily; Angle, Brad; Alves, Claudia; Lourenco, Teresa; Rodrigues, Marcia; Calado, Angelina; Amado, Marta; Guerreiro, Nancy; Serras, Ines; Beetz, Christian; Varga, Rita-Eva; Silay, Mesrur Selcuk; Darlow, John M.; Dobson, Mark G.; Barton, David E.; Hunziker, Manuela; Puri, Prem; Feather, Sally A.; Goodship, Judith A.; Goodship, Timothy H. J.; Lambert, Heather J.; Cordell, Heather J.; Saggar, Anand; Kinali, Maria; Lorenz, Christian; Moeller, Kristina; Schaefer, Franz; Bayazit, Aysun K.; Weber, Stefanie; Newman, William G.; Woolf, Adrian S. 分享 收藏
Autoantibodies to CD59, CD55, CD46 or CD35 are not associated with atypical haemolytic uraemic syndrome (aHUS) Watson, Rachael; Wearmouth, Emma; McLoughlin, Amy-Claire; Jackson, Arthur; Ward, Sophie; Bertram, Paula; Bennaceur, Karim; Barker, Catriona E.; Pappworth, Isabel Y.; Kavanagh, David; Lea, Susan M.; Atkinson, John P.; Goodship, Timothy H. J.; Marchbank, Kevin J. 分享 收藏
Characterization of a Factor H Mutation That Perturbs the Alternative Pathway of Complement in a Family with Membranoproliferative GN Wong, Edwin K. S.; Anderson, Holly E.; Herbert, Andrew P.; Challis, Rachel C.; Brown, Paul; Reis, Geisilaine S.; Tellez, James O.; Strain, Lisa; Fluck, Nicholas; Humphrey, Ann; Macleod, Alison; Richards, Anna; Ahlert, Daniel; Santibanez-Koref, Mauro; Barlow, Paul N.; Marchbank, Kevin J.; Harris, Claire L.; Goodship, Timothy H. J.; Kavanagh, David 分享 收藏
Factors determining penetrance in familial atypical haemolytic uraemic syndrome Sansbury, Francis H.; Cordell, Heather J.; Bingham, Coralie; Bromilow, Gilly; Nicholls, Anthony; Powell, Roy; Shields, Bev; Smyth, Lucy; Warwicker, Paul; Strain, Lisa; Wilson, Valerie; Goodship, Judith A.; Goodship, Timothy H. J.; Turnpenny, Peter D. 分享 收藏
A novel method for direct measurement of complement convertases activity in human serum Blom, A. M.; Volokhina, E. B.; Fransson, V.; Stromberg, P.; Berghard, L.; Viktorelius, M.; Mollnes, T. E.; Lopez-Trascasa, M.; van den Heuvel, L. P.; Goodship, T. H.; Marchbank, K. J.; Okroj, M. 分享 收藏
Genotype/Phenotype Correlations in Complement Factor H Deficiency Arising From Uniparental Isodisomy Wilson, Valerie; Darlay, Rebecca; Wong, William; Wood, Katrina M.; McFarlane, Jeannette; Schejbel, Lone; Schmidt, Ida M.; Harris, Claire L.; Tellez, James; Hunze, Eva-Maria; Marchbank, Kevin; Goodship, Judith A.; Goodship, Timothy H. J. 分享 收藏
Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype Bresin, Elena; Rurali, Erica; Caprioli, Jessica; Sanchez-Corral, Pilar; Fremeaux-Bacchi, Veronique; Rodriguez de Cordoba, Santiago; Pinto, Sheila; Goodship, Timothy H. J.; Alberti, Marta; Ribes, David; Valoti, Elisabetta; Remuzzi, Giuseppe; Noris, Marina 分享 收藏
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