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注意:仅列出部分参考文献,下载原文获取全部文献信息。Advances in understanding the aetiology of atypical Haemolytic Uraemic Syndrome
Pilar Sanchez-Corral et al.
BRITISH JOURNAL OF HAEMATOLOGY (2010)
Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome
Cynthia Abarrategui-Garrido et al.
BLOOD (2009)
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome
M-A Dragon-Durey et al.
JOURNAL OF MEDICAL GENETICS (2009)
MEDICAL PROGRESS Atypical Hemolytic-Uremic Syndrome
Marina Noris et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Translational Mini-Review Series on Complement Factor H: Therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic uraemic syndrome and membranoproliferative glomerulonephritis
M. Noris et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2008)
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
Mihaly Jozsi et al.
BLOOD (2008)
Multiple gene polymorphisms in the complement factor H gene are associated with exudative age-related macular degeneration in chinese
Tsz Kin Ng et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains
Matthew C. Pickering et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2007)
Insights into hemolytic uremic syndrome:: Segregation of three independent predisposition factors in a large, multiple affected pedigree
J Esparza-Gordillo et al.
MOLECULAR IMMUNOLOGY (2006)
Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: Characterization, ethnic distribution and evolutionary implications
Gregory S. Hageman et al.
ANNALS OF MEDICINE (2006)
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts
V Fremeaux-Bacchi et al.
JOURNAL OF MEDICAL GENETICS (2005)
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
J Esparza-Gordillo et al.
HUMAN MOLECULAR GENETICS (2005)
Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome
MA Dragon-Durey et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2005)
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
J Caprioli et al.
HUMAN MOLECULAR GENETICS (2003)
Haemolytic uraemic syndrome and mutations of the factor H gene:: a registry-based study of German speaking countries
HPH Neumann et al.
JOURNAL OF MEDICAL GENETICS (2003)
Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome
P Sánchez-Corral et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome
D Pérez-Caballero et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)