Lista de obras -

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2008

Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

artículo científico publicado en 2006

Atypical relapse of hemolytic uremic syndrome after transplantation

artículo científico publicado en 2004

Challenges in the management of infantile factor H associated hemolytic uremic syndrome.

artículo científico publicado en 2004

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

artículo científico publicado en 2014

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome

artículo científico publicado en 2016

Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.

artículo científico publicado en 2011

Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: concordant presentation, discordant response to treatment

artículo científico publicado en 2006

Complement factor h autoantibodies and age-related macular degeneration.

artículo científico publicado en 2010

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

artículo científico publicado en 2006

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

artículo científico publicado en 2007

Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.

artículo científico publicado en 2013

Factor I autoantibodies are associated with atypical haemolytic uraemic syndrome

scholarly article by David Kavanagh et al published August 2010 in Molecular Immunology

Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon?

artículo científico publicado en 2012

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

artículo científico publicado en 2014

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

artículo científico publicado en 2008

Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: successful treatment with intensive plasma exchanges and ganciclovir

artículo científico publicado en 2005

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome

artículo científico publicado en 2008

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease

artículo científico publicado en 2016

Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1).

artículo científico publicado en 2010

Lista de obras de

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome

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

Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness

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

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

Atypical relapse of hemolytic uremic syndrome after transplantation

Challenges in the management of infantile factor H associated hemolytic uremic syndrome.

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome

Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.

Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: concordant presentation, discordant response to treatment

Complement factor h autoantibodies and age-related macular degeneration.

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.

Factor I autoantibodies are associated with atypical haemolytic uraemic syndrome

Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon?

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: successful treatment with intensive plasma exchanges and ganciclovir

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease

Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1).