Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32 von Holmes, Lucy V, Strain, Lisa, Staniforth, Scott J, Moore, Iain, Marchbank, Kevin, Kavanagh, David, Goodship, Judith A, Cordell, Heather J, Goodship, Timothy H J

Volltext

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome von Zipfel, Peter F, Edey, Matthew, Heinen, Stefan, Józsi, Mihály, Richter, Heiko, Misselwitz, Joachim, Hoppe, Bernd, Routledge, Danny, Strain, Lisa, Hughes, Anne E, Goodship, Judith A, Licht, Christoph, Goodship, Timothy H J, Skerka, Christine

Volltext

The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts von Fremeaux-Bacchi, V, Kemp, E J, Goodship, J A, Dragon-Durey, M-A, Strain, L, Loirat, C, Deng, H-W, Goodship, T H J

Volltext

Clinical Practice Guidelines for the management of atypical Haemolytic Uraemic Syndrome in the United Kingdom von Taylor, C. Mark, Machin, Sam, Wigmore, Stephen J., Goodship, Tim H. J.

Volltext

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene von Venables, Julian P, Strain, Lisa, Routledge, Danny, Bourn, David, Powell, Helen M, Warwicker, Paul, Diaz-Torres, Martha L, Sampson, Anne, Mead, Paul, Webb, Michelle, Pirson, Yves, Jackson, Michael S, Hughes, Anne, Wood, Katrina M, Goodship, Judith A, Goodship, Timothy H J

Volltext

Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome von Richards, Anna, Kemp, Elizabeth J., Liszewski, M. Kathryn, Goodship, Judith A., Lampe, Anne K., Decorte, Ronny, Müslümanoǧglu, M. Hamza, Kavukcu, Salih, Filler, Guido, Pirson, Yves, Wen, Leana S., Atkinson, John P., Timothy H. J. Goodship

Volltext

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome von Francis, Nigel J., McNicholas, Bairbre, Awan, Atif, Waldron, Mary, Reddan, Donal, Sadlier, Denise, Kavanagh, David, Strain, Lisa, Marchbank, Kevin J., Harris, Claire L., Goodship, Timothy H.J.

Volltext

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy von Garcia, C C, Blair, H J, Seager, M, Coulthard, A, Tennant, S, Buddles, M, Curtis, A, Goodship, J A

Volltext

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome von Fang, Celia J., Fremeaux-Bacchi, Veronique, Liszewski, M. Kathryn, Pianetti, Gaia, Noris, Marina, Goodship, Timothy H.J., Atkinson, John P.

Volltext

Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype von BRESIN, Elena, RURALI, Erica, VALOTI, Elisabetta, REMUZZI, Giuseppe, NORIS, Marina, CAPRIOLI, Jessica, SANCHEZ-CORRAL, Pilar, FREMEAUX-BACCHI, Veronique, DE CORDOBA, Santiago Rodriguez, PINTO, Sheila, GOODSHIP, Timothy H. J, ALBERTI, Marta, RIBES, David

Volltext

Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition von Richards, Anna, Buddles, Mark R., Donne, Rosemary L., Kaplan, Bernard S., Kirk, Edwin, Venning, Michael C., Tielemans, Christian L., Goodship, Judith A., Goodship, Timothy H.J.

Volltext

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome von Frémeaux-Bacchi, Veronique, Miller, Elizabeth C., Liszewski, M. Kathryn, Strain, Lisa, Blouin, Jacques, Brown, Alison L., Moghal, Nadeem, Kaplan, Bernard S., Weiss, Robert A., Lhotta, Karl, Kapur, Gaurav, Mattoo, Tej, Nivet, Hubert, Wong, William, Gie, Sophie, de Ligny, Bruno Hurault, Fischbach, Michel, Gupta, Ritu, Hauhart, Richard, Meunier, Vincent, Loirat, Chantal, Dragon-Durey, Marie-Agnès, Fridman, Wolf H., Janssen, Bert J.C., Goodship, Timothy H.J., Atkinson, John P.

Volltext

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy von Osborne, Amy J, Breno, Matteo, Borsa, Nicolo Ghiringhelli, Bu, Fengxiao, Frémeaux-Bacchi, Véronique, Gale, Daniel P, van den Heuvel, Lambertus P, Kavanagh, David, Noris, Marina, Pinto, Sheila, Rallapalli, Pavithra M, Remuzzi, Giuseppe, Rodríguez de Cordoba, Santiago, Ruiz, Angela, Smith, Richard J H, Vieira-Martins, Paula, Volokhina, Elena, Wilson, Valerie, Goodship, Timothy H J, Perkins, Stephen J

Volltext

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome von Gennery, A.R, Slatter, M.A, Rice, J, Hoefsloot, L.H, Barge, D, McLean-Tooke, A, Montgomery, T, Goodship, J.A, Burt, A.D, Flood, T.J, Abinun, M, Cant, A.J, Johnson, D

Volltext

Mutations in complement factor i predispose to development of atypical hemolytic uremic syndrome von KAVANAGH, David, KEMP, Elizabeth J, MAYLAND, Elizabeth, WINNEY, Robin J, DUFFIELD, Jeremy S, WARWICK, Graham, RICHARDS, Anna, WARD, Roy, GOODSHIP, Judith A, GOODSHIP, Timothy H. J

Volltext

Factors determining penetrance in familial atypical haemolytic uraemic syndrome von 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

Volltext

Atypical hemolytic uremic syndrome, genetic basis, and clinical manifestations von Kavanagh, David, Goodship, Timothy H J

Volltext

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome von Moore, Iain, Strain, Lisa, Pappworth, Isabel, Kavanagh, David, Barlow, Paul N., Herbert, Andrew P., Schmidt, Christoph Q., Staniforth, Scott J., Holmes, Lucy V., Ward, Roy, Morgan, Lynn, Goodship, Timothy H.J., Marchbank, Kevin J.

Volltext

Atypical haemolytic uraemic syndrome von KAVANAGH, David, GOODSHIP, Timothy H. J, RICHARDS, Anna

Volltext

Evc Regulates a Symmetrical Response to Shh Signaling in Molar Development von Nakatomi, M., Hovorakova, M., Gritli-Linde, A., Blair, H.J., MacArthur, K., Peterka, M., Lesot, H., Peterkova, R., Ruiz-Perez, V.L., Goodship, J.A., Peters, H.

Volltext