Detalhe da pesquisa
1.
Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.
J Am Soc Nephrol
; 28(4): 1084-1091, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-27974406
2.
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.
J Am Soc Nephrol
; 27(6): 1617-24, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26490391
3.
Factors determining penetrance in familial atypical haemolytic uraemic syndrome.
J Med Genet
; 51(11): 756-64, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25261570
4.
Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.
J Am Soc Nephrol
; 25(11): 2425-33, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24722444
5.
Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.
J Clin Immunol
; 34(1): 42-8, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24217815
6.
A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome.
Blood
; 119(2): 591-601, 2012 Jan 12.
Artigo
Inglês
| MEDLINE | ID: mdl-22058112
7.
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.
Blood
; 115(2): 379-87, 2010 Jan 14.
Artigo
Inglês
| MEDLINE | ID: mdl-19861685
8.
Successful simultaneous liver-kidney transplant in an adult with atypical hemolytic uremic syndrome associated with a mutation in complement factor H.
Am J Kidney Dis
; 58(1): 109-12, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21601332
9.
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.
Am J Kidney Dis
; 55(4): 708-11, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19854549
10.
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
Blood
; 112(13): 4948-52, 2008 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18796626
11.
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
PLoS Genet
; 3(3): e41, 2007 Mar 16.
Artigo
Inglês
| MEDLINE | ID: mdl-17367211
12.
Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1).
Ren Fail
; 32(6): 753-6, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20540647
13.
Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome.
Pediatr Nephrol
; 24(9): 1757-60, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19373492
14.
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.
J Am Soc Nephrol
; 19(3): 639-46, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18235085
15.
Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness.
Am J Kidney Dis
; 51(3): 487-90, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18295065
16.
A case of acute myeloid leukemia with inv(16)(p13q22) reveals a novel MYH11 breakpoint and a new CBF beta-MYH11 transcript variant.
Haematologica
; 92(10): 1433-4, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18024381
17.
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
Hum Mutat
; 27(3): 292-3, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-16470555
18.
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
PLoS Med
; 3(10): e431, 2006 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17076561
19.
Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: concordant presentation, discordant response to treatment.
Am J Kidney Dis
; 47(2): e27-30, 2006 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-16431247
20.
Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.
Immunobiology
; 221(10): 1124-30, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27268256