-
1
-
-
45449105770
-
Mutations in proteins of the alternative pathway of complement and the pathogenesis of atypical hemolytic uremic syndrome
-
Abarrategui-Garrido, C., Melgosa, M., Peña-Carrión, A., Goicoechea de Jorge, E., Rodríguez de Córdoba, S., López -Trascasa, M. Sánchez- Corral, P. (2008) Mutations in proteins of the alternative pathway of complement and the pathogenesis of atypical hemolytic uremic syndrome. American Journal of Kidney Disease, 52, 171 180.
-
(2008)
American Journal of Kidney Disease
, vol.52
, pp. 171-180
-
-
Abarrategui-Garrido, C.1
Melgosa, M.2
Peña-Carrión, A.3
Goicoechea De Jorge, E.4
Rodríguez De Córdoba, S.5
López -Trascasa, M.6
Sánchez- Corral, P.7
-
2
-
-
76949087440
-
Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome
-
Abarrategui-Garrido, C., Martínez-Barricarte, R., López-Trascasa, M., Rodríguez de Córdoba, S. Sánchez-Corral, P. (2009) Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood, 114, 4261 4271.
-
(2009)
Blood
, vol.114
, pp. 4261-4271
-
-
Abarrategui-Garrido, C.1
Martínez-Barricarte, R.2
López- Trascasa, M.3
Rodríguez De Córdoba, S.4
Sánchez-Corral, P.5
-
3
-
-
61549117207
-
Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome
-
for The European Paediatric Study Group for HUS
-
Ariceta, G., Besbas, N., Johnson, S., Karpman, D., Landau, D., Licht, C., Loirat, Ch., Pecoraro, C., Taylor, M., Van de Kar, N., VandeWalle, J. Zimmerhackl, L.B. for The European Paediatric Study Group for HUS (2009) Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatric Nephrology, 24, 687 696.
-
(2009)
Pediatric Nephrology
, vol.24
, pp. 687-696
-
-
Ariceta, G.1
Besbas, N.2
Johnson, S.3
Karpman, D.4
Landau, D.5
Licht, C.6
Loirat, C.7
Pecoraro, C.8
Taylor, M.9
Van De Kar, N.10
Vandewalle, J.11
Zimmerhackl, L.B.12
-
4
-
-
75749153964
-
Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome
-
Bienaime, F., Dragon-Durey, M.A., Regnier, C.H., Nilsson, S.C., Kwan, W.H., Blouin, J., Jablonski, M., Renault, N., Rameix-Welti, M.A., Loirat, C., Sautés-Fridman, C., Villoutreix, B.O., Blom, A.M. Fremeaux-Bacchi, V. (2010) Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome. Kidney Internatonal, 77, 339 349.
-
(2010)
Kidney Internatonal
, vol.77
, pp. 339-349
-
-
Bienaime, F.1
Dragon-Durey, M.A.2
Regnier, C.H.3
Nilsson, S.C.4
Kwan, W.H.5
Blouin, J.6
Jablonski, M.7
Renault, N.8
Rameix-Welti, M.A.9
Loirat, C.10
Sautés-Fridman, C.11
Villoutreix, B.O.12
Blom, A.M.13
Fremeaux-Bacchi, V.14
-
5
-
-
44449103295
-
A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity
-
Blom, A.M., Bergström, F., Edey, M., Diaz-Torres, M., Kavanagh, D., Lampe, A., Goodship, J.A., Strain, L., Moghal, N., McHugh, M., Inward, C., Tomson, C., Frémeaux-Bacchi, V., Villoutreix, B.O. Goodship, T.H. (2008) A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity. Journal of Immunology, 180, 6385 6391.
-
(2008)
Journal of Immunology
, vol.180
, pp. 6385-6391
-
-
Blom, A.M.1
Bergström, F.2
Edey, M.3
Diaz-Torres, M.4
Kavanagh, D.5
Lampe, A.6
Goodship, J.A.7
Strain, L.8
Moghal, N.9
McHugh, M.10
Inward, C.11
Tomson, C.12
Frémeaux-Bacchi, V.13
Villoutreix, B.O.14
Goodship, T.H.15
-
6
-
-
77951621575
-
Pulse cyclophosphamide therapy and clinical remission in Atypical Hemolytic Uremic Syndrome with Anti-Complement factor H Autoantibodies
-
Boyer, O., Balzamo, E., Charbit, M., Biebuyck-Gougé, N., Salomon, R., Dragon-Durey, M.A., Frémeaux-Bacchi, V. Niaudet, P. (2010) Pulse cyclophosphamide therapy and clinical remission in Atypical Hemolytic Uremic Syndrome with Anti-Complement factor H Autoantibodies. American Journal of Kidney Diseases, 55, 923 927.
-
(2010)
American Journal of Kidney Diseases
, vol.55
, pp. 923-927
-
-
Boyer, O.1
Balzamo, E.2
Charbit, M.3
Biebuyck-Gougé, N.4
Salomon, R.5
Dragon-Durey, M.A.6
Frémeaux-Bacchi, V.7
Niaudet, P.8
-
7
-
-
0035143299
-
The molecular basis of familial hemolytic uremic syndrome: Mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20
-
Caprioli, J., Bettinaglio, P., Zipfel, P.F., Amadei, B., Daina, E., Gamba, S., Skerka, C., Marziliano, N., Remuzzi, G. Noris, M. (2001) The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. Journal of the American Society of Nephrology, 12, 297 307.
-
(2001)
Journal of the American Society of Nephrology
, vol.12
, pp. 297-307
-
-
Caprioli, J.1
Bettinaglio, P.2
Zipfel, P.F.3
Amadei, B.4
Daina, E.5
Gamba, S.6
Skerka, C.7
Marziliano, N.8
Remuzzi, G.9
Noris, M.10
-
8
-
-
0242601270
-
Complement factor H mutations and gene polymorphisms in hemolytic uremic syndrome: The c-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
-
Caprioli, J., Castelletti, F., Bucchioni, S., Bettinaglio, P., Bresin, E., Pianetti, G., Gamba, S., Brioschi, A., Daina, E., Remuzzi, G. Noris, M. (2003) Complement factor H mutations and gene polymorphisms in hemolytic uremic syndrome: the c-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Human Molecular Genetics, 12, 3385 3395.
-
(2003)
Human Molecular Genetics
, vol.12
, pp. 3385-3395
-
-
Caprioli, J.1
Castelletti, F.2
Bucchioni, S.3
Bettinaglio, P.4
Bresin, E.5
Pianetti, G.6
Gamba, S.7
Brioschi, A.8
Daina, E.9
Remuzzi, G.10
Noris, M.11
-
9
-
-
33747159590
-
Genetics of HUS: The impact of MCP, CFH and if mutations on clinical presentation, response to treatment, and outcome
-
for the International Registry of Recurrent and Familial HUS/TTP
-
Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelleti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, G., Fang, C.J., Liszewski, M.K., Kavanagh, D., Atkinson, J.P., Remuzzi, G. for the International Registry of Recurrent and Familial HUS/TTP (2006) Genetics of HUS: the impact of MCP, CFH and IF mutations on clinical presentation, response to treatment, and outcome. Blood, 108, 1267 1279.
-
(2006)
Blood
, vol.108
, pp. 1267-1279
-
-
Caprioli, J.1
Noris, M.2
Brioschi, S.3
Pianetti, G.4
Castelleti, F.5
Bettinaglio, P.6
Mele, C.7
Bresin, E.8
Cassis, L.9
Gamba, S.10
Porrati, F.11
Bucchioni, S.12
Monteferrante, G.13
Fang, C.J.14
Liszewski, M.K.15
Kavanagh, D.16
Atkinson, J.P.17
Remuzzi, G.18
-
10
-
-
70350130833
-
Safety and long-term efficacy of eculizumab in a renal transplant patient with recurrent atypical hemolytic-uremic syndrome
-
Chatelet, V., Frémeaux-Bacchi, V., Lobbedez, T., Ficheux, M. de Ligny, B.H. (2009) Safety and long-term efficacy of eculizumab in a renal transplant patient with recurrent atypical hemolytic-uremic syndrome. American Journal of Transplantation, 9, 2644 2645.
-
(2009)
American Journal of Transplantation
, vol.9
, pp. 2644-2645
-
-
Chatelet, V.1
Frémeaux-Bacchi, V.2
Lobbedez, T.3
Ficheux, M.4
De Ligny, B.H.5
-
11
-
-
1842637606
-
Attempted treatment of factor H deficiency by liver transplantation
-
Cheong, H.I., Lee, B.S., Kang, H.G., Hahn, H., Suh, K.S., Ha, I.S. Choi, Y. (2004) Attempted treatment of factor H deficiency by liver transplantation. Pediatric Nephrology, 19, 454 458.
-
(2004)
Pediatric Nephrology
, vol.19
, pp. 454-458
-
-
Cheong, H.I.1
Lee, B.S.2
Kang, H.G.3
Hahn, H.4
Suh, K.S.5
Ha, I.S.6
Choi, Y.7
-
12
-
-
47149084583
-
Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair
-
Couzi, L., Contin-Bordes, C., Marliot, F., Sarrat, A., Grimal, P., Moreau, J.F., Merville, P. Fremeaux-Bacchi, V. (2008) Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair. American Journal of Kidney Diseases, 52, e5 e9.
-
(2008)
American Journal of Kidney Diseases
, vol.52
-
-
Couzi, L.1
Contin-Bordes, C.2
Marliot, F.3
Sarrat, A.4
Grimal, P.5
Moreau, J.F.6
Merville, P.7
Fremeaux-Bacchi, V.8
-
13
-
-
66249101956
-
Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both factor i and MCP
-
Cruzado, J.M., de Córdoba, S.R., Melilli, E., Bestard, O., Rama, I., Sánchez-Corral, P., López-Trascasa, M., Navarro, I., Torras, J., Gomà, M. Grinyó, J.M. (2009) Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both factor I and MCP. American Journal of Transplantation, 9, 1477 1483.
-
(2009)
American Journal of Transplantation
, vol.9
, pp. 1477-1483
-
-
Cruzado, J.M.1
De Córdoba, S.R.2
Melilli, E.3
Bestard, O.4
Rama, I.5
Sánchez-Corral, P.6
López-Trascasa, M.7
Navarro, I.8
Torras, J.9
Gomà, M.10
Grinyó, J.M.11
-
14
-
-
77949570344
-
Maintenance of kidney function following treatment with eculizumab and discontinuation of plasma exchange after a third kidney transplant for atypical hemolytic uremic syndrome associated with a CFH mutation
-
Davin, J.C., Gracchi, V., Bouts, A., Groothoff, J., Strain, L. Goodship, T. (2010) Maintenance of kidney function following treatment with eculizumab and discontinuation of plasma exchange after a third kidney transplant for atypical hemolytic uremic syndrome associated with a CFH mutation. American Journal of Kidney Diseases, 55, 708 711.
-
(2010)
American Journal of Kidney Diseases
, vol.55
, pp. 708-711
-
-
Davin, J.C.1
Gracchi, V.2
Bouts, A.3
Groothoff, J.4
Strain, L.5
Goodship, T.6
-
15
-
-
67651166873
-
Thrombomodulin mutations in atypical hemolytic-uremic syndrome
-
Delvaeye, M., Noris, M., De Vriese, A., Esmon, C.T., Esmon, N.L., Ferrell, G., Del-Favero, J., Plaisance, S., Claes, B., Lambrechts, D., Zoja, C., Remuzzi, G. Conway, E.M. (2009) Thrombomodulin mutations in atypical hemolytic-uremic syndrome. The New England Journal of Medicine, 361, 345 357.
-
(2009)
The New England Journal of Medicine
, vol.361
, pp. 345-357
-
-
Delvaeye, M.1
Noris, M.2
De Vriese, A.3
Esmon, C.T.4
Esmon, N.L.5
Ferrell, G.6
Del-Favero, J.7
Plaisance, S.8
Claes, B.9
Lambrechts, D.10
Zoja, C.11
Remuzzi, G.12
Conway, E.M.13
-
16
-
-
18744377731
-
Recurrence of hemolytic uremic syndrome after live related renal transplantation associated with subsequent de novo disease in the donor
-
Donne, R.L., Abbs, I., Barany, P., Elinder, C.G., Little, M., Conlon, P. Goodship, T.H. (2002) Recurrence of hemolytic uremic syndrome after live related renal transplantation associated with subsequent de novo disease in the donor. American Journal of Kidney Disease, 40, E22.
-
(2002)
American Journal of Kidney Disease
, vol.40
, pp. 22
-
-
Donne, R.L.1
Abbs, I.2
Barany, P.3
Elinder, C.G.4
Little, M.5
Conlon, P.6
Goodship, T.H.7
-
17
-
-
1542318912
-
Heterozygous and homozygous Factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: Report and genetic analysis of 16 cases
-
Dragon-Durey, M.A., Frémeaux-Bacchi, V., Loirat, C., Blouin, J., Niaudet, P., Deschenes, G., Coppo, P., Herman Fridman, W. Weiss, L. (2004) Heterozygous and homozygous Factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. Journal of American Society of Nephrology, 15, 787 795.
-
(2004)
Journal of American Society of Nephrology
, vol.15
, pp. 787-795
-
-
Dragon-Durey, M.A.1
Frémeaux-Bacchi, V.2
Loirat, C.3
Blouin, J.4
Niaudet, P.5
Deschenes, G.6
Coppo, P.7
Herman Fridman, W.8
Weiss, L.9
-
18
-
-
20544437666
-
Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome
-
Dragon-Durey, M.A., Loirat, C., Cloarec, S., Macher, M.A., Blouin, J., Nivet, H., Weiss, L., Fridman, W.H. Frémeaux-Bacchi, V. (2005) Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology, 16, 555 563.
-
(2005)
Journal of the American Society of Nephrology
, vol.16
, pp. 555-563
-
-
Dragon-Durey, M.A.1
Loirat, C.2
Cloarec, S.3
MacHer, M.A.4
Blouin, J.5
Nivet, H.6
Weiss, L.7
Fridman, W.H.8
Frémeaux-Bacchi, V.9
-
19
-
-
67650508077
-
The high frequency of complement factor H-related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome
-
Dragon-Durey, M.A., Blanc, C., Marliot, F., Loirat, C., Blouin, J., Sautes-Fridman, C., Fridman, W.H. Frémeaux-Bacchi, V. (2009) The high frequency of complement factor H-related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. Journal of Medical Genetics, 46, 447 450.
-
(2009)
Journal of Medical Genetics
, vol.46
, pp. 447-450
-
-
Dragon-Durey, M.A.1
Blanc, C.2
Marliot, F.3
Loirat, C.4
Blouin, J.5
Sautes-Fridman, C.6
Fridman, W.H.7
Frémeaux-Bacchi, V.8
-
20
-
-
14644424005
-
Predisposition to atypical Hemolytic Uremic Syndrome involves the concurrence of different susceptibility alleles in the Regulators of Complement Activation gene cluster in 1q32
-
Esparza-Gordillo, J., Goicoechea de Jorge, E., Buil, A., Carreras-Berges, L., López-Trascasa, M., Sánchez-Corral, P. Rodríguez de Córdoba, S. (2005) Predisposition to atypical Hemolytic Uremic Syndrome involves the concurrence of different susceptibility alleles in the Regulators of Complement Activation gene cluster in 1q32. Human Molecular Genetics, 14, 703 712.
-
(2005)
Human Molecular Genetics
, vol.14
, pp. 703-712
-
-
Esparza-Gordillo, J.1
Goicoechea De Jorge, E.2
Buil, A.3
Carreras-Berges, L.4
López-Trascasa, M.5
Sánchez-Corral, P.6
Rodríguez De Córdoba, S.7
-
21
-
-
33644964155
-
Insights into hemolytic uremic syndrome: Segregation of three independent predisposition factors in a large, multiple affected pedigree
-
Esparza-Gordillo, J., Goicoechea de Jorge, E., Abarrategui-Garrido, C., Carreras, L., López-Trascasa, M., Sánchez-Corral, P. Rodríguez de Córdoba, S. (2006) Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. Molecular Immunology, 43, 1769 1775.
-
(2006)
Molecular Immunology
, vol.43
, pp. 1769-1775
-
-
Esparza-Gordillo, J.1
Goicoechea De Jorge, E.2
Abarrategui-Garrido, C.3
Carreras, L.4
López-Trascasa, M.5
Sánchez-Corral, P.6
Rodríguez De Córdoba, S.7
-
22
-
-
54049118934
-
Advances in understanding of pathogenesis of aHUS and HELLP
-
Fang, C.J., Richards, A., Liszewsky, M.K., Kavanagh, D. Atkinson, J.P. (2008) Advances in understanding of pathogenesis of aHUS and HELLP. British Journal of Haematology, 143, 336 348.
-
(2008)
British Journal of Haematology
, vol.143
, pp. 336-348
-
-
Fang, C.J.1
Richards, A.2
Liszewsky, M.K.3
Kavanagh, D.4
Atkinson, J.P.5
-
23
-
-
19444369542
-
Complement factor I: A susceptibility gene for atypical haemolytic uraemic syndrome
-
Online mutation report)
-
Frémeaux Bacchi, V., Dragon-Durey, M.A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B., Loirat, C., Rondeau, E. Fridman, W.H. (2004) Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. Journal of Medical Genetics, 41, e84 (Online mutation report)
-
(2004)
Journal of Medical Genetics
, vol.4184
-
-
Frémeaux Bacchi, V.1
Dragon-Durey, M.A.2
Blouin, J.3
Vigneau, C.4
Kuypers, D.5
Boudailliez, B.6
Loirat, C.7
Rondeau, E.8
Fridman, W.H.9
-
24
-
-
34447127478
-
Recurrence of HUS due to CD46/MCP mutation alter renal transplantation: A role for endothelial microchimerism
-
Frémeaux- Bacchi, V., Arzouk, N., Ferlicot, S., Charpentier, B., Snanoudj, R. Dürrbach, A. (2007) Recurrence of HUS due to CD46/MCP mutation alter renal transplantation: a role for endothelial microchimerism. American Journal of Transplantation, 7, 2047 2051.
-
(2007)
American Journal of Transplantation
, vol.7
, pp. 2047-2051
-
-
Frémeaux-Bacchi, V.1
Arzouk, N.2
Ferlicot, S.3
Charpentier, B.4
Snanoudj, R.5
Dürrbach, A.6
-
25
-
-
26944480588
-
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: Evidence from two independent cohorts
-
Frémeaux-Bacchi, V., Kemp, E.J., Goodship, J.A., Dragon-Durey, M.A., Strain, L., Loirat, C., Deng, H.W. Goodship, T.H. (2005) The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. Journal of Medical Genetics, 42, 852 856.
-
(2005)
Journal of Medical Genetics
, vol.42
, pp. 852-856
-
-
Frémeaux-Bacchi, V.1
Kemp, E.J.2
Goodship, J.A.3
Dragon-Durey, M.A.4
Strain, L.5
Loirat, C.6
Deng, H.W.7
Goodship, T.H.8
-
26
-
-
33745812440
-
Genetic and Functional Analyses of Membrane Cofactor Protein (CD46) Mutations in Atypical Hemolytic Uremic Syndrome
-
Frémeaux-Bacchi, V., Moulton, E.A., Kavanagh, D., Dragon-Durey, M.A., Blouin, J., Caudy, A., Arzouk, N., Cleper, R., Francois, M., Guest, G., Pourrat, J., Seligman, R., Fridman, W.H., Loirat, C. Atkinson, J.P. (2006) Genetic and Functional Analyses of Membrane Cofactor Protein (CD46) Mutations in Atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology, 17, 2017 2025.
-
(2006)
Journal of the American Society of Nephrology
, vol.17
, pp. 2017-2025
-
-
Frémeaux-Bacchi, V.1
Moulton, E.A.2
Kavanagh, D.3
Dragon-Durey, M.A.4
Blouin, J.5
Caudy, A.6
Arzouk, N.7
Cleper, R.8
Francois, M.9
Guest, G.10
Pourrat, J.11
Seligman, R.12
Fridman, W.H.13
Loirat, C.14
Atkinson, J.P.15
-
27
-
-
54049137505
-
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
-
Frémeaux-Bacchi, V., Miller, E.C., Liszewski, M.K., Strain, L., Blouin, J., Brown, A.L., Moghal, N., Kaplan, B.S., Weiss, R.A., Lhotta, K., Kapur, G., Mattoo, T., Nivet, H., Wong, W., Gie, S., Hurault de Ligny, B., Fischbach, M., Gupta, R., Hauhart, R., Meunier, V., Loirat, C., Dragon-Durey, M.A., Fridman, W.H., Janssen, B.J.C., Goodship, T.H.J. Atkinson, J.P. (2008) Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood, 112, 4948 4952.
-
(2008)
Blood
, vol.112
, pp. 4948-4952
-
-
Frémeaux-Bacchi, V.1
Miller, E.C.2
Liszewski, M.K.3
Strain, L.4
Blouin, J.5
Brown, A.L.6
Moghal, N.7
Kaplan, B.S.8
Weiss, R.A.9
Lhotta, K.10
Kapur, G.11
Mattoo, T.12
Nivet, H.13
Wong, W.14
Gie, S.15
Hurault De Ligny, B.16
Fischbach, M.17
Gupta, R.18
Hauhart, R.19
Meunier, V.20
Loirat, C.21
Dragon-Durey, M.A.22
Fridman, W.H.23
Janssen, B.J.C.24
Goodship, T.H.J.25
Atkinson, J.P.26
more..
-
28
-
-
33846094404
-
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
-
Goicoechea de Jorge, E., Harris, C.L., Esparza-Gordillo, J., Carreras, L., Aller Arranz, E., Abarrategui Garrido, C., López-Trascasa, M., Sánchez-Corral, P., Morgan, B.P. Rodríguez de Córdoba, S. (2007) Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proceedings of the National Academy of Sciences of the United States of America, 104, 240 245.
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, pp. 240-245
-
-
Goicoechea De Jorge, E.1
Harris, C.L.2
Esparza-Gordillo, J.3
Carreras, L.4
Aller Arranz, E.5
Abarrategui Garrido, C.6
López-Trascasa, M.7
Sánchez-Corral, P.8
Morgan, B.P.9
Rodríguez De Córdoba, S.10
-
29
-
-
59449088846
-
Eculizumab for congenital atypical hemolytic-uremic syndrome
-
Gruppo, R.A. Rother, R.P. (2009) Eculizumab for congenital atypical hemolytic-uremic syndrome. New England Journal of Medicine, 360, 544 546.
-
(2009)
New England Journal of Medicine
, vol.360
, pp. 544-546
-
-
Gruppo, R.A.1
Rother, R.P.2
-
30
-
-
33746655453
-
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement fH associated with atypical hemolytic uremic syndrome
-
Heinen, S., Sanchez-Corral, P., Jackson, M.S., Strain, L., Goodship, J.A., Kemp, E.J., Skerka, C., Jokiranta, T.S., Meyers, K., Wagner, E., Robitaille, P., Esparza-Gordillo, J., Rodriguez de Cordoba, S., Zipfel, P.F. Goodship, T.H. (2006) De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement fH associated with atypical hemolytic uremic syndrome. Human Mutation, 27, 292 293.
-
(2006)
Human Mutation
, vol.27
, pp. 292-293
-
-
Heinen, S.1
Sanchez-Corral, P.2
Jackson, M.S.3
Strain, L.4
Goodship, J.A.5
Kemp, E.J.6
Skerka, C.7
Jokiranta, T.S.8
Meyers, K.9
Wagner, E.10
Robitaille, P.11
Esparza-Gordillo, J.12
Rodriguez De Cordoba, S.13
Zipfel, P.F.14
Goodship, T.H.15
-
31
-
-
37549018997
-
Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H
-
Jalanko, H., Peltonen, S., Koskinen, A., Puntila, J., Isoniemi, H., Holmberg, C., Pinomaki, A., Armstrong, E., Koivusalo, A., Tukiainen, E., Makisalo, H., Saland, J., Remuzzi, G., de Cordoba, S., Lassila, R. Meri S, Jokiranta.T.S. (2008) Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H. American Journal of Transplantation, 8, 216 221.
-
(2008)
American Journal of Transplantation
, vol.8
, pp. 216-221
-
-
Jalanko, H.1
Peltonen, S.2
Koskinen, A.3
Puntila, J.4
Isoniemi, H.5
Holmberg, C.6
Pinomaki, A.7
Armstrong, E.8
Koivusalo, A.9
Tukiainen, E.10
Makisalo, H.11
Saland, J.12
Remuzzi, G.13
De Cordoba, S.14
Lassila, R.15
Meri, S.J.T.S.16
-
32
-
-
47749126514
-
Factor H family proteins and human diseases
-
Józsi, M. Zipfel, P.F. (2008) Factor H family proteins and human diseases. Trends in Immunology, 29, 380 387.
-
(2008)
Trends in Immunology
, vol.29
, pp. 380-387
-
-
Józsi, M.1
Zipfel, P.F.2
-
33
-
-
34548853385
-
Anti-factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome
-
Józsi, M., Strobel, S., Dahse, H.M., Liu, W., Hoyer, P.F., Oppermann, M., Skerka, C. Zipfel, P.F. (2007) Anti-factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome. Blood, 110, 1516 1518.
-
(2007)
Blood
, vol.110
, pp. 1516-1518
-
-
Józsi, M.1
Strobel, S.2
Dahse, H.M.3
Liu, W.4
Hoyer, P.F.5
Oppermann, M.6
Skerka, C.7
Zipfel, P.F.8
-
34
-
-
38949155911
-
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
-
DOI 10.1182/blood-2007-09-109876
-
Józsi, M., Licht, C., Strobel, S., Zipfel, S.L.H., Richter, H., Heinen, S., Zipfel, P.F. Skerka, C. (2008) Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood, 111, 1512 1514. (Pubitemid 351213440)
-
(2008)
Blood
, vol.111
, Issue.3
, pp. 1512-1514
-
-
Jozsi, M.1
Licht, C.2
Strobel, S.3
Zipfel, S.L.H.4
Richter, H.5
Heinen, S.6
Zipfel, P.F.7
Skerka, C.8
-
35
-
-
27744452766
-
Mutations in complement Factor i predispose to development of atypical Hemolytic Uremic Syndrome
-
Kavanagh, D., Kemp, E.J., Mayland, E., Winney, R.J., Duffield, J.S., Warwick, G., Richards, A., Ward, R., Goodship, J.A. Goodship, T.H. (2005) Mutations in complement Factor I predispose to development of atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology, 16, 2150 2155.
-
(2005)
Journal of the American Society of Nephrology
, vol.16
, pp. 2150-2155
-
-
Kavanagh, D.1
Kemp, E.J.2
Mayland, E.3
Winney, R.J.4
Duffield, J.S.5
Warwick, G.6
Richards, A.7
Ward, R.8
Goodship, J.A.9
Goodship, T.H.10
-
36
-
-
34548309310
-
Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome
-
DOI 10.1016/j.molimm.2007.05.004, PII S016158900700209X
-
Kavanagh, D., Richards, A., Noris, M., Hauhart, R., Liszewski, M.K., Karpman, D., Goodship, J.A., Fremeaux-Bacchi, V., Remuzzi, G., Goodship, T.H. Atkinson, J.P. (2008) Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome. Molecular Immunology, 45, 95 105. (Pubitemid 47336973)
-
(2008)
Molecular Immunology
, vol.45
, Issue.1
, pp. 95-105
-
-
Kavanagh, D.1
Richards, A.2
Noris, M.3
Hauhart, R.4
Liszewski, M.K.5
Karpman, D.6
Goodship, J.A.7
Fremeaux-Bacchi, V.8
Remuzzi, G.9
Goodship, T.H.J.10
Atkinson, J.P.11
-
37
-
-
44449165673
-
Successful pre-transplant management of a patient with anti-factor H autoantibodies-associated haemolytic uraemic syndrome
-
Kwon, T., Dragon-Durey, M.-A., Macher, M.A., Baudouin, V., Maisin, A., Peuchmaur, M., Fremeaux-Bacchi, V. Loirat, C. (2008) Successful pre-transplant management of a patient with anti-factor H autoantibodies-associated haemolytic uraemic syndrome. Nephrology Dialysis and Transplantation, 23, 2088 2090.
-
(2008)
Nephrology Dialysis and Transplantation
, vol.23
, pp. 2088-2090
-
-
Kwon, T.1
Dragon-Durey, M.-A.2
MacHer, M.A.3
Baudouin, V.4
Maisin, A.5
Peuchmaur, M.6
Fremeaux-Bacchi, V.7
Loirat, C.8
-
38
-
-
65249156546
-
Anti-Factor H autoantibodies in a fifth renal transplant recipient with atypical hemolytic and uremic syndrome
-
Le Quintrec, M., Zuber, J., Noel, L.H., Thervet, E., Frémeaux- Bacchi, V., Niaudet, P., Fridman, W.H., Legendre, C. Dragon-Durey, M.A. (2009) Anti-Factor H autoantibodies in a fifth renal transplant recipient with atypical hemolytic and uremic syndrome. American Journal of Transplantation, 9, 1223 1229.
-
(2009)
American Journal of Transplantation
, vol.9
, pp. 1223-1229
-
-
Le Quintrec, M.1
Zuber, J.2
Noel, L.H.3
Thervet, E.4
Frémeaux-Bacchi, V.5
Niaudet, P.6
Fridman, W.H.7
Legendre, C.8
Dragon-Durey, M.A.9
-
39
-
-
70350448229
-
Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency
-
Lee, B.H., Kwak, S.H., Shin, J.I., Lee, S.H., Choi, H.J., Kang, H.G., Ha, I.S., Lee, J.S., Dragon-Durey, M.A., Choi, Y. Cheong, H.I. (2009) Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency. Pediatric Research, 66, 336 340.
-
(2009)
Pediatric Research
, vol.66
, pp. 336-340
-
-
Lee, B.H.1
Kwak, S.H.2
Shin, J.I.3
Lee, S.H.4
Choi, H.J.5
Kang, H.G.6
Ha, I.S.7
Lee, J.S.8
Dragon-Durey, M.A.9
Choi, Y.10
Cheong, H.I.11
-
40
-
-
70349923265
-
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure
-
Lhotta, K., Janecke, A.R., Scheiring, J., Petzlberger, B., Giner, T., Fally, V., Würzner, R., Zimmerhackl, L.B., Mayer, G. Fremeaux-Bacchi, V. (2009) A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure. Clinical Journal of the American Society of Nephrology, 4, 1356 1362.
-
(2009)
Clinical Journal of the American Society of Nephrology
, vol.4
, pp. 1356-1362
-
-
Lhotta, K.1
Janecke, A.R.2
Scheiring, J.3
Petzlberger, B.4
Giner, T.5
Fally, V.6
Würzner, R.7
Zimmerhackl, L.B.8
Mayer, G.9
Fremeaux-Bacchi, V.10
-
41
-
-
77955803613
-
A case of adult atypical haemolytic uraemic syndrome related to anti-factor H autoantibodies successfully treated by plasma exchange, corticosteroids and rituximab
-
Lionet, A., Provôt, F., Glowacki, F., Frémeaux-Bacchi, V. Hazzan, M. (2009) A case of adult atypical haemolytic uraemic syndrome related to anti-factor H autoantibodies successfully treated by plasma exchange, corticosteroids and rituximab. Nephrology Dialysis and Transplantation Plus, 2, 458 460.
-
(2009)
Nephrology Dialysis and Transplantation Plus
, vol.2
, pp. 458-460
-
-
Lionet, A.1
Provôt, F.2
Glowacki, F.3
Frémeaux-Bacchi, V.4
Hazzan, M.5
-
42
-
-
49349112382
-
Hemolytic uremic syndrome recurrence after renal transplantation
-
Loirat, C. Frémeaux-Bacchi, V. (2008) Hemolytic uremic syndrome recurrence after renal transplantation. Pediatric Transplantation, 12, 619 629.
-
(2008)
Pediatric Transplantation
, vol.12
, pp. 619-629
-
-
Loirat, C.1
Frémeaux-Bacchi, V.2
-
43
-
-
70349907791
-
Complement inhibitor eculizumab in atypical hemolytic uremic syndrome
-
Mache, C.J., Acham-Roschitz, B., Frémeaux-Bacchi, V., Kirschfink, M., Zipfel, P.F., Roedl, S., Vester, U. Ring, E. (2009) Complement inhibitor eculizumab in atypical hemolytic uremic syndrome. Clinical Journal of the American Society of Nephrology, 4, 1312 1316.
-
(2009)
Clinical Journal of the American Society of Nephrology
, vol.4
, pp. 1312-1316
-
-
MacHe, C.J.1
Acham-Roschitz, B.2
Frémeaux-Bacchi, V.3
Kirschfink, M.4
Zipfel, P.F.5
Roedl, S.6
Vester, U.7
Ring, E.8
-
44
-
-
77952682366
-
Mutations in alternative pathway complement proteins in American patients with atypical Hemolytic Uremic Syndrome
-
Mutation in Brief
-
Maga, T., Nishimura, C.J., Frees, K.L., Weaver, A. Smith, R.J.H. (2010) Mutations in alternative pathway complement proteins in American patients with atypical Hemolytic Uremic Syndrome. Human Mutation. Mutation in Brief 31 : E1445 E1460.
-
(2010)
Human Mutation.
, vol.31
-
-
Maga, T.1
Nishimura, C.J.2
Frees, K.L.3
Weaver, A.4
Smith, R.J.H.5
-
45
-
-
0037396993
-
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome
-
Manuelian, T., Hellwage, J., Meri, S., Caprioli, J., Noris, M., Heinen, S., Jozsi, M., Neumann, H.P., Remuzzi, G. Zipfel, P.F. (2003) Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. Journal of Clinical Investigation, 111, 1181 1190.
-
(2003)
Journal of Clinical Investigation
, vol.111
, pp. 1181-1190
-
-
Manuelian, T.1
Hellwage, J.2
Meri, S.3
Caprioli, J.4
Noris, M.5
Heinen, S.6
Jozsi, M.7
Neumann, H.P.8
Remuzzi, G.9
Zipfel, P.F.10
-
46
-
-
57449108090
-
Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population
-
Martínez-Barricarte, R., Goicoechea de Jorge, E., Montes, T., Layana, A.G. Rodríguez de Córdoba, S. (2008) Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population. Clinical Experimental Immunology, 155, 59 64.
-
(2008)
Clinical Experimental Immunology
, vol.155
, pp. 59-64
-
-
Martínez-Barricarte, R.1
Goicoechea De Jorge, E.2
Montes, T.3
Layana, A.G.4
Rodríguez De Córdoba, S.5
-
47
-
-
75649133611
-
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4 and with mutations in CFH, CFI, CD46, and C3 in patients with atypical haemolytic uraemic syndrome
-
Moore, I., Strain, L., Pappworth, I., Kavanagh, D., Barlow, P.N., Herbert, A.P., Schmidt, C.Q., Staniforth, S.J., Holmes, L.V., Ward, R., Morgan, L., Goodship, T.H.J. Marchbank, K.J. (2010) Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4 and with mutations in CFH, CFI, CD46, and C3 in patients with atypical haemolytic uraemic syndrome. Blood, 115, 379 387.
-
(2010)
Blood
, vol.115
, pp. 379-387
-
-
Moore, I.1
Strain, L.2
Pappworth, I.3
Kavanagh, D.4
Barlow, P.N.5
Herbert, A.P.6
Schmidt, C.Q.7
Staniforth, S.J.8
Holmes, L.V.9
Ward, R.10
Morgan, L.11
Goodship, T.H.J.12
Marchbank, K.J.13
-
48
-
-
0042329931
-
Haemolytic uraemic syndrome and mutations of the factor H gene: A registry-based study of German speaking countries
-
Neumann, H.P., Salzmann, M., Bohnert-Iwan, B., Mannuelian, T., Skerka, C., Lenk, D., Bender, B.U., Cybulla, M., Riegler, P., Königsrainer, A., Neyer, U., Bock, A., Widmer, U., Male, D.A., Franke, G. Zipfel, P.F. (2003) Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. Journal of Medical Genetics, 40, 676 681.
-
(2003)
Journal of Medical Genetics
, vol.40
, pp. 676-681
-
-
Neumann, H.P.1
Salzmann, M.2
Bohnert-Iwan, B.3
Mannuelian, T.4
Skerka, C.5
Lenk, D.6
Bender, B.U.7
Cybulla, M.8
Riegler, P.9
Königsrainer, A.10
Neyer, U.11
Bock, A.12
Widmer, U.13
Male, D.A.14
Franke, G.15
Zipfel, P.F.16
-
49
-
-
74249114451
-
Mutations in complement factor i as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor i
-
Nilsson, S.C., Kalchishkova, N., Trouw, L.A., Fremeaux-Bacchi, V., Villoutreix, B.O. Blom, A.M. (2010) Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I. European Journal of Immunology, 40, 172 185.
-
(2010)
European Journal of Immunology
, vol.40
, pp. 172-185
-
-
Nilsson, S.C.1
Kalchishkova, N.2
Trouw, L.A.3
Fremeaux-Bacchi, V.4
Villoutreix, B.O.5
Blom, A.M.6
-
51
-
-
0242570482
-
Familial hemolytic uraemic syndrome and an MCP mutation
-
Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F., Gamba, S. Remuzzi, G. (2003) Familial hemolytic uraemic syndrome and an MCP mutation. The Lancet, 362, 1542 1547.
-
(2003)
The Lancet
, vol.362
, pp. 1542-1547
-
-
Noris, M.1
Brioschi, S.2
Caprioli, J.3
Todeschini, M.4
Bresin, E.5
Porrati, F.6
Gamba, S.7
Remuzzi, G.8
-
52
-
-
59449107473
-
Eculizumab for atypical hemolytic-uremic syndrome
-
Nürnberger, J., Philipp, T., Witzke, O., Opazo Saez, A., Vester, U., Baba, H.A., Kribben, A., Zimmerhackl, L.B., Janecke, A.R., Nagel, M. Kirschfink, M. (2009) Eculizumab for atypical hemolytic-uremic syndrome. New England Journal of Medicine, 360, 542 544.
-
(2009)
New England Journal of Medicine
, vol.360
, pp. 542-544
-
-
Nürnberger, J.1
Philipp, T.2
Witzke, O.3
Opazo Saez, A.4
Vester, U.5
Baba, H.A.6
Kribben, A.7
Zimmerhackl, L.B.8
Janecke, A.R.9
Nagel, M.10
Kirschfink, M.11
-
53
-
-
0035121908
-
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome
-
Pérez-Caballero, D., González-Rubio, C., Gallardo, M.E., Vera, M., López-Trascasa, M., Rodríguez de Córdoba, S. Sánchez-Corral, P. (2001) Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. American Journal of Human Genetics, 68, 478 484.
-
(2001)
American Journal of Human Genetics
, vol.68
, pp. 478-484
-
-
Pérez-Caballero, D.1
González-Rubio, C.2
Gallardo, M.E.3
Vera, M.4
López-Trascasa, M.5
Rodríguez De Córdoba, S.6
Sánchez-Corral, P.7
-
54
-
-
0027948289
-
Familial hemolytic-uremic syndrome and homozygous factor H deficiency
-
Pichette, V., Quérin, S., Schürch, W., Brun, G., Lehner-Netsch, G. Delâge, J.M. (1994) Familial hemolytic-uremic syndrome and homozygous factor H deficiency. American Journal of Kidney Diseases, 24, 936 941.
-
(1994)
American Journal of Kidney Diseases
, vol.24
, pp. 936-941
-
-
Pichette, V.1
Quérin, S.2
Schürch, W.3
Brun, G.4
Lehner-Netsch, G.5
Delâge, J.M.6
-
55
-
-
0036699540
-
Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H
-
Pickering, M.C., Cook, H.T., Warren, J., Bygrave, A.E., Moss, J., Walport, M.J. Botto, M. (2002) Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. Nature Genetics, 31, 424 428.
-
(2002)
Nature Genetics
, vol.31
, pp. 424-428
-
-
Pickering, M.C.1
Cook, H.T.2
Warren, J.3
Bygrave, A.E.4
Moss, J.5
Walport, M.J.6
Botto, M.7
-
56
-
-
34250329129
-
Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains
-
Pickering, M.C., de Jorge, E.G., Martinez-Barricarte, R., Recalde, S., Garcia-Layana, A., Rose, K.L., Moss, J., Walport, M.J., Cook, H.T., de Córdoba, S.R. Botto, M. (2007) Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains. The Journal of Experimental Medicine, 204, 1249 1256.
-
(2007)
The Journal of Experimental Medicine
, vol.204
, pp. 1249-1256
-
-
Pickering, M.C.1
De Jorge, E.G.2
Martinez-Barricarte, R.3
Recalde, S.4
Garcia-Layana, A.5
Rose, K.L.6
Moss, J.7
Walport, M.J.8
Cook, H.T.9
De Córdoba, S.R.10
Botto, M.11
-
57
-
-
0037062233
-
Combined kidney and liver transplantation for familial haemolytic uraemic syndrome
-
Remuzzi, G., Ruggenenti, P., Codazzi, D., Noris, M., Caprioli, J., Locatelli, G. Gridelli, B. (2002) Combined kidney and liver transplantation for familial haemolytic uraemic syndrome. Lancet, 359, 1671 1672.
-
(2002)
Lancet
, vol.359
, pp. 1671-1672
-
-
Remuzzi, G.1
Ruggenenti, P.2
Codazzi, D.3
Noris, M.4
Caprioli, J.5
Locatelli, G.6
Gridelli, B.7
-
58
-
-
20244377213
-
Hemolytic uremic syndrome: A fatal outcome after kidney and liver transplantation performed to correct factor H gene mutation
-
Remuzzi, G., Ruggenenti, P., Colledan, M., Gridelli, B., Bertani, A., Bettinaglio, P., Bucchioni, S., Sonzogni, A., Bonanomi, E., Sonzogni, V., Platt, J.L., Perico, N. Noris, M. (2005) Hemolytic uremic syndrome: a fatal outcome after kidney and liver transplantation performed to correct factor H gene mutation. American Journal of Transplantation, 5, 1146 1150.
-
(2005)
American Journal of Transplantation
, vol.5
, pp. 1146-1150
-
-
Remuzzi, G.1
Ruggenenti, P.2
Colledan, M.3
Gridelli, B.4
Bertani, A.5
Bettinaglio, P.6
Bucchioni, S.7
Sonzogni, A.8
Bonanomi, E.9
Sonzogni, V.10
Platt, J.L.11
Perico, N.12
Noris, M.13
-
59
-
-
0035128326
-
Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition
-
Richards, A., Buddles, M.R., Donne, R.L., Kaplan, B.S., Kirk, E., Venning, M.C., Tielemans, C.L., Goodship, J.A. Goodhsip, T.H.J. (2001) Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. American Journal of Human Genetics, 68, 485 490.
-
(2001)
American Journal of Human Genetics
, vol.68
, pp. 485-490
-
-
Richards, A.1
Buddles, M.R.2
Donne, R.L.3
Kaplan, B.S.4
Kirk, E.5
Venning, M.C.6
Tielemans, C.L.7
Goodship, J.A.8
Goodhsip, T.H.J.9
-
60
-
-
0242331610
-
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome
-
Richards, A., Kemp, E.J., Liszewski, M.K., Goodship, J.A., Lampe, A.K., Decorte, R., Müslümanoglu, M.H., Kavuhcu, S., Filler, G., Pirson, Y., Wen, L.S., Atkinson, J.P. Goodship, T.H.J. (2003) Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proceedings of the National Academy of Sciences of the United States of America, 100, 12966 12971.
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, pp. 12966-12971
-
-
Richards, A.1
Kemp, E.J.2
Liszewski, M.K.3
Goodship, J.A.4
Lampe, A.K.5
Decorte, R.6
Müslümanoglu, M.H.7
Kavuhcu, S.8
Filler, G.9
Pirson, Y.10
Wen, L.S.11
Atkinson, J.P.12
Goodship, T.H.J.13
-
61
-
-
0031724313
-
Human complement factor H deficiency associated with hemolytic uremic syndrome
-
Rougier, N., Kazatchkine, M.D., Rougier, J.P., Frémeaux-Bacchi, V., Blouin, J., Deschenes, G., Soto, B., Baudouin, V., Pautard, B., Proesmans, W., Weiss, E. Weiss, L. (1998) Human complement factor H deficiency associated with hemolytic uremic syndrome. Journal of the American Society of Nephrology, 9, 2318 2326.
-
(1998)
Journal of the American Society of Nephrology
, vol.9
, pp. 2318-2326
-
-
Rougier, N.1
Kazatchkine, M.D.2
Rougier, J.P.3
Frémeaux-Bacchi, V.4
Blouin, J.5
Deschenes, G.6
Soto, B.7
Baudouin, V.8
Pautard, B.9
Proesmans, W.10
Weiss, E.11
Weiss, L.12
-
62
-
-
70350475255
-
Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome
-
Roumenina, L.T., Jablonski, M., Hue, C., Blouin, J., Dimitrov, J.D., Dragon-Durey, M.A., Cayla, M., Fridman, W.H., Macher, M.A., Ribes, D., Moulonguet, L., Rostaing, L., Satchell, S.C., Mathieson, P.W., Sautes-Fridman, C., Loirat, C., Regnier, C.H., Halbwachs-Mecarelli, L. Fremeaux-Bacchi, V. (2009) Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome. Blood, 114, 2837 2845.
-
(2009)
Blood
, vol.114
, pp. 2837-2845
-
-
Roumenina, L.T.1
Jablonski, M.2
Hue, C.3
Blouin, J.4
Dimitrov, J.D.5
Dragon-Durey, M.A.6
Cayla, M.7
Fridman, W.H.8
MacHer, M.A.9
Ribes, D.10
Moulonguet, L.11
Rostaing, L.12
Satchell, S.C.13
Mathieson, P.W.14
Sautes-Fridman, C.15
Loirat, C.16
Regnier, C.H.17
Halbwachs-Mecarelli, L.18
Fremeaux-Bacchi, V.19
-
63
-
-
33745767079
-
Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation
-
Saland, J.M., Emre, S.H., Shneider, B.L., Benchimol, C., Ames, S., Bromberg, J.S., Remuzzi, G., Strain, L. Goodship, T.H. (2006) Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation. American Journal of Transplantation, 6, 1948 1952.
-
(2006)
American Journal of Transplantation
, vol.6
, pp. 1948-1952
-
-
Saland, J.M.1
Emre, S.H.2
Shneider, B.L.3
Benchimol, C.4
Ames, S.5
Bromberg, J.S.6
Remuzzi, G.7
Strain, L.8
Goodship, T.H.9
-
64
-
-
64049101602
-
Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome
-
Saland, J.M., Shneider, B.L., Bromberg, J.S., Shi, P.A., Ward, S.C., Magid, M.S., Benchimol, C., Seikaly, M.G., Emre, S.H., Bresin, E. Remuzzi, G. (2009a) Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome. Clinical Journal of the American Society of Nephrology, 4, 201 206.
-
(2009)
Clinical Journal of the American Society of Nephrology
, vol.4
, pp. 201-206
-
-
Saland, J.M.1
Shneider, B.L.2
Bromberg, J.S.3
Shi, P.A.4
Ward, S.C.5
Magid, M.S.6
Benchimol, C.7
Seikaly, M.G.8
Emre, S.H.9
Bresin, E.10
Remuzzi, G.11
-
65
-
-
65649106258
-
Liver-kidney transplantation to cure Atypical Hemolytic Uremic Syndrome
-
the Consensus Study Group
-
Saland, J.M., Ruggenenti, P., Remuzzi, G. the Consensus Study Group (2009b) Liver-kidney transplantation to cure Atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology, 20, 940 949.
-
(2009)
Journal of the American Society of Nephrology
, vol.20
, pp. 940-949
-
-
Saland, J.M.1
Ruggenenti, P.2
Remuzzi, G.3
-
66
-
-
0036908821
-
Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome
-
Sánchez-Corral, P., Pérez-Caballero, D., Huarte, O., Simckes, A.M., Goicoechea, E., López-Trascasa, M. Rodríguez de Córdoba, S. (2002) Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome. American Journal of Human Genetics, 71, 1285 1295.
-
(2002)
American Journal of Human Genetics
, vol.71
, pp. 1285-1295
-
-
Sánchez-Corral, P.1
Pérez-Caballero, D.2
Huarte, O.3
Simckes, A.M.4
Goicoechea, E.5
López-Trascasa, M.6
Rodríguez De Córdoba, S.7
-
67
-
-
2342582709
-
Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H
-
Sánchez-Corral, P., González-Rubio, C., Rodríguez de Córdoba, S. López-Trascasa, M. (2004) Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H. Molecular Immunology, 41, 81 84.
-
(2004)
Molecular Immunology
, vol.41
, pp. 81-84
-
-
Sánchez-Corral, P.1
González-Rubio, C.2
Rodríguez De Córdoba, S.3
López-Trascasa, M.4
-
68
-
-
33847237272
-
The interactive factor H-atypical hemolytic uremic syndrome mutation database and website: Update and integration of membrane cofactor protein and factor i mutations with structural models
-
Saunders, R.E., Abarrategui-Garrido, C., Frémeaux-Bacchi, V., Goicoechea de Jorge, E., Goodship, T.H.J., López-Trascasa, M., Noris, M., Ponce-Castro, I.M., Remuzzi, G., Rodríguez de Córdoba, S., Sánchez-Corral, P., Skerka, C., Zipfel, P.F. Perkins, S.J. (2007) The interactive factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and factor I mutations with structural models. Human Mutation, 28, 222 234.
-
(2007)
Human Mutation
, vol.28
, pp. 222-234
-
-
Saunders, R.E.1
Abarrategui-Garrido, C.2
Frémeaux-Bacchi, V.3
Goicoechea De Jorge, E.4
Goodship, T.H.J.5
López-Trascasa, M.6
Noris, M.7
Ponce-Castro, I.M.8
Remuzzi, G.9
Rodríguez De Córdoba, S.10
Sánchez-Corral, P.11
Skerka, C.12
Zipfel, P.F.13
Perkins, S.J.14
-
69
-
-
34547633064
-
Differential impact of complement mutations on clinical characteristics in atypical Hemolytic Uremic Syndrome
-
Loirat
-
Sellier-Leclerc, A.L., Fremeaux-Bacchi, V., Dragon-Durey, M.A., Macher, M.A., Niaudet, P., Guest, G., Boudailliez, B., Bouissou, F., Deschenes, G., Gie, S., Tsimaratos, M., Fischbach, M., Morin, D., Nivet, H., Alberti, C. Loirat (2007) Differential impact of complement mutations on clinical characteristics in atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology, 18, 2392 2400.
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, pp. 2392-2400
-
-
Sellier-Leclerc, A.L.1
Fremeaux-Bacchi, V.2
Dragon-Durey, M.A.3
MacHer, M.A.4
Niaudet, P.5
Guest, G.6
Boudailliez, B.7
Bouissou, F.8
Deschenes, G.9
Gie, S.10
Tsimaratos, M.11
Fischbach, M.12
Morin, D.13
Nivet, H.14
Alberti, C.15
-
70
-
-
45949108983
-
Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation
-
Ståhl, A.L., Vaziri-Sani, F., Heinen, S., Kristoffersson, A.C., Gydell, K.H., Raafat, R., Gutierrez, A., Beringer, O., Zipfel, P.F. Karpman, D. (2008) Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation. Blood, 111, 5307 5315.
-
(2008)
Blood
, vol.111
, pp. 5307-5315
-
-
Ståhl, A.L.1
Vaziri-Sani, F.2
Heinen, S.3
Kristoffersson, A.C.4
Gydell, K.H.5
Raafat, R.6
Gutierrez, A.7
Beringer, O.8
Zipfel, P.F.9
Karpman, D.10
-
71
-
-
67349259594
-
A novel mutation in the complement regulator clusterin in recurrent hemolytic uremic syndrome
-
Ståhl, A.L., Kristoffersson, A., Olin, A.I., Olsson, M.L., Roodhooft, A.M., Proesmans, W. Karpman, D. (2009) A novel mutation in the complement regulator clusterin in recurrent hemolytic uremic syndrome. Molecular Immunology, 46, 2236 2243.
-
(2009)
Molecular Immunology
, vol.46
, pp. 2236-2243
-
-
Ståhl, A.L.1
Kristoffersson, A.2
Olin, A.I.3
Olsson, M.L.4
Roodhooft, A.M.5
Proesmans, W.6
Karpman, D.7
-
72
-
-
72949096309
-
Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome
-
Strobel, S., Hoyer, P.F., Mache, C.J., Sulyok, E., Liu, W.S., Richter, H., Oppermann, M., Zipfel, P.F. Józsi, M. (2010) Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome. Nephrology Dialysis and Transplantation, 25, 136 144.
-
(2010)
Nephrology Dialysis and Transplantation
, vol.25
, pp. 136-144
-
-
Strobel, S.1
Hoyer, P.F.2
MacHe, C.J.3
Sulyok, E.4
Liu, W.S.5
Richter, H.6
Oppermann, M.7
Zipfel, P.F.8
Józsi, M.9
-
73
-
-
77951257162
-
A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome
-
Tawadrous, H., Maga, T., Sharma, J., Kupferman, J., Smith, R.J.H. Schoeneman, M. (2010) A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome. Pediatric Nephrology, 5, 947 951.
-
(2010)
Pediatric Nephrology
, vol.5
, pp. 947-951
-
-
Tawadrous, H.1
Maga, T.2
Sharma, J.3
Kupferman, J.4
Smith, R.J.H.5
Schoeneman, M.6
-
74
-
-
72249097911
-
Clinical practice guidelines for the management of atypical Haemolytice Uraemic Syndrome in the United Kingdom
-
Goodship. the British Committee for Standards in Haematology. the British Transplantation Society
-
Taylor, C.M., Machin, S., Wigmore, S.J., Goodship, the British Committee for Standards in Haematology the British Transplantation Society (2010) Clinical practice guidelines for the management of atypical Haemolytice Uraemic Syndrome in the United Kingdom. British Journal of Haematology, 148, 37 47.
-
(2010)
British Journal of Haematology
, vol.148
, pp. 37-47
-
-
Taylor, C.M.1
MacHin, S.2
Wigmore, S.J.3
-
76
-
-
69449090499
-
The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity
-
Tortajada, A., Montes, T., Martínez-Barricarte, R., Morgan, B.P., Harris, C.L. de Córdoba, S.R. (2009) The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity. Human Molecular Genetics, 18, 3452 3461.
-
(2009)
Human Molecular Genetics
, vol.18
, pp. 3452-3461
-
-
Tortajada, A.1
Montes, T.2
Martínez-Barricarte, R.3
Morgan, B.P.4
Harris, C.L.5
De Córdoba, S.R.6
-
77
-
-
33644870779
-
Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome
-
Vaziri-Sani, F., Holmberg, L., Sjöholm, A.G., Kristoffersson, A.C., Manea, M., Frémeaux-Bacchi, V., Fehrman-Ekholm, I., Raafat, R. Karpman, D. (2006) Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome. Kidney International, 69, 981 988.
-
(2006)
Kidney International
, vol.69
, pp. 981-988
-
-
Vaziri-Sani, F.1
Holmberg, L.2
Sjöholm, A.G.3
Kristoffersson, A.C.4
Manea, M.5
Frémeaux-Bacchi, V.6
Fehrman-Ekholm, I.7
Raafat, R.8
Karpman, D.9
-
78
-
-
33750855444
-
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene
-
Venables, J.P., Strain, L., Routledge, D., Bourn, D., Powell, H.M., Warwicker, P., Díaz-Torres, M.L., Sampson, A., Mead, P., Webb, M., Pirson, Y., Jackson, M.S., Hughes, A., Wood, K.M., Goodship, J.A. Goodship, T.H.J. (2006) Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Medicine, 10, 1957 1967.
-
(2006)
PLoS Medicine
, vol.10
, pp. 1957-1967
-
-
Venables, J.P.1
Strain, L.2
Routledge, D.3
Bourn, D.4
Powell, H.M.5
Warwicker, P.6
Díaz-Torres, M.L.7
Sampson, A.8
Mead, P.9
Webb, M.10
Pirson, Y.11
Jackson, M.S.12
Hughes, A.13
Wood, K.M.14
Goodship, J.A.15
Goodship, T.H.J.16
-
80
-
-
0031970553
-
Genetic studies into inherited and sporadic hemolytic uremic syndrome
-
Warwicker, P., Goodship, T.H.J., Donne, R.L., Pirson, Y., Nicholls, A., Ward, R.M., Turnpenny, P. Goodship, J.A. (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney International, 53, 836 844.
-
(1998)
Kidney International
, vol.53
, pp. 836-844
-
-
Warwicker, P.1
Goodship, T.H.J.2
Donne, R.L.3
Pirson, Y.4
Nicholls, A.5
Ward, R.M.6
Turnpenny, P.7
Goodship, J.A.8
-
81
-
-
72549110489
-
Successful renal transplantation in factor H autoantibody associated HUS with CFHR1 and 3 deficiency and CFH variant G2850T
-
Waters, A.M., Pappworth, I., Marchbank, K., Bockenhauer, D., Tullus, K., Pickering, M.C., Strain, L., Sebire, N., Shroff, R., Marks, S.D., Goodship, T.H. Rees, L. (2010) Successful renal transplantation in factor H autoantibody associated HUS with CFHR1 and 3 deficiency and CFH variant G2850T. American Journal of Transplantation, 10, 168 172.
-
(2010)
American Journal of Transplantation
, vol.10
, pp. 168-172
-
-
Waters, A.M.1
Pappworth, I.2
Marchbank, K.3
Bockenhauer, D.4
Tullus, K.5
Pickering, M.C.6
Strain, L.7
Sebire, N.8
Shroff, R.9
Marks, S.D.10
Goodship, T.H.11
Rees, L.12
-
82
-
-
77951876953
-
Prophylactic eculizumab after renal transplantation in atypical hemolytic-uremic syndrome
-
Zimmerhackl, L.B., Hofer, J., Cortina, G., Mark, W., Würzner, R., Jungraithmayr, T.C., Khursigara, G., Kliche, K.O. Radauer, W. (2010) Prophylactic eculizumab after renal transplantation in atypical hemolytic-uremic syndrome. New England Journal of Medicine, 362, 1746 1748.
-
(2010)
New England Journal of Medicine
, vol.362
, pp. 1746-1748
-
-
Zimmerhackl, L.B.1
Hofer, J.2
Cortina, G.3
Mark, W.4
Würzner, R.5
Jungraithmayr, T.C.6
Khursigara, G.7
Kliche, K.O.8
Radauer, W.9
-
83
-
-
34047200899
-
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical Hemolytic Uremic Syndrome
-
Zipfel, P.F., Edey, M., Heinen, S., Józsi, M., Richter, H., Misselwitz, J., Hoppe, B., Routledge, D., Strain, L., Hughes, A.E., Goodshipe, J.A., Licht, C., Goodship, T.H.J. Skerka, C. (2007) Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical Hemolytic Uremic Syndrome. PLoS Genetics, 3, 387 392.
-
(2007)
PLoS Genetics
, vol.3
, pp. 387-392
-
-
Zipfel, P.F.1
Edey, M.2
Heinen, S.3
Józsi, M.4
Richter, H.5
Misselwitz, J.6
Hoppe, B.7
Routledge, D.8
Strain, L.9
Hughes, A.E.10
Goodshipe, J.A.11
Licht, C.12
Goodship, T.H.J.13
Skerka, C.14
-
84
-
-
77956231486
-
DEAP-HUS: Deficiency of CFHR plasma proteins and autoantibody-positive form of haemolytic uremic syndrome
-
Skerka. February 16 [Epub ahead of print] PMID: 20157737. DOI:.
-
Zipfel, P.F., Mache, C., Müller, D., Licht, C., Wigger, M. Skerka (2010) DEAP-HUS: deficiency of CFHR plasma proteins and autoantibody-positive form of haemolytic uremic syndrome. Pediatric Nephrology, February 16 [Epub ahead of print] PMID: 20157737. DOI:.
-
(2010)
Pediatric Nephrology
-
-
Zipfel, P.F.1
MacHe, C.2
Müller, D.3
Licht, C.4
Wigger, M.5
|