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Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD

Frontiers in immunology, 2021-01, Vol.11, p.602284

2021

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A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration

Frontiers in immunology, 2022-12, Vol.13, p.1028760-1028760

2022

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Diseases of complement dysregulation—an overview

Seminars in immunopathology, 2018, Vol.40 (1), p.49-64

2018

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Hemolytic Uremic Syndrome in Pregnancy and Postpartum

Clinical journal of the American Society of Nephrology, 2017-08, Vol.12 (8), p.1237-1247

2017

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Making sense of the spectrum of glomerular disease associated with complement dysregulation

Pediatric nephrology (Berlin, West), 2014-10, Vol.29 (10), p.1883-1894

2014

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Complement therapy in atypical haemolytic uraemic syndrome (aHUS)

Molecular immunology, 2013-12, Vol.56 (3), p.199-212

2013

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Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

Human molecular genetics, 2014-10, Vol.23 (19), p.5283-5293

2014

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Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy

Kidney international, 2020-06, Vol.97 (6), p.1260-1274

2020

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Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

Journal of the American Society of Nephrology, 2020-02, Vol.31 (2), p.365-373

2020

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Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome

Transplantation, 2023-04, Vol.107 (4), p.994

2023

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Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland

Kidney international, 2017-11, Vol.92 (5), p.1261-1271

2017

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An extended mini-complement factor H molecule ameliorates experimental C3 glomerulopathy

Kidney international, 2015-12, Vol.88 (6), p.1314-1322

2015

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Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study

Blood, 2023-10, Vol.142 (16), p.1371

2023

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C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes

Clinical journal of the American Society of Nephrology, 2021-11, Vol.16 (11), p.1639-1651

2021

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Thrombotic Microangiopathy in Inverted Formin 2 - Mediated Renal Disease

Journal of the American Society of Nephrology, 2017-04, Vol.28 (4), p.1084-1091

2017

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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

Journal of the American Society of Nephrology, 2016-06, Vol.27 (6), p.1617-1624

2016

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Successful management of bilateral emphysematous pyelonephritis in end-stage polycystic kidneys: bilateral native nephrectomies and preservation of functioning renal transplant

Clinical kidney journal, 2011-12, Vol.4 (6), p.452-453

2011

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

Journal of the American Society of Nephrology, 2014-11, Vol.25 (11), p.2425-2433

2014

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Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri

Clinical kidney journal, 2014-06, Vol.7 (3), p.286-288

2014

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Sarcoidosis presenting with hypercalcaemia following withdrawal of long-term immunosuppression in renal transplantation

Oxford Medical Case Reports, 2014-08, Vol.2014 (5), p.86-88

2014

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The long-acting C5 inhibitor, Ravulizumab, is effective and safe in adult patients with atypical hemolytic uremic syndrome naïve to complement inhibitor treatment

Kidney international, 2020-06, Vol.97 (6), p.1287-1296

2020

Volltextzugriff (PDF)

Corrigendum to "Rondeau E, Scully M, Ariceta G, Barbour T, Cataland S, Heyne N, Miyakawa Y, Ortiz S, Swenson E, Vallee M, Yoon S-S, Kavanagh D and Haller H; on behalf of the 311 Study Group. The long-acting C5 inhibitor, Ravulizumab, is effective and safe in adult patients with atypical hemolytic uremic syndrome naïve to complement inhibitor treatment." Kidney Int. 2020;97:1287-1296

Kidney international, 2021-05, Vol.99 (5), p.1244-1244

2021

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SP018CHARACTERISATION OF A C3 MUTATION WITH INCREASED RESISTANCE TO COMPLEMENT REGULATION IN AN INDIVIDUAL WITH RECURRENT C3GN IN A RENAL TRANSPLANT

Nephrology, dialysis, transplantation, 2015-05, Vol.30 (suppl_3), p.iii386-iii387

2015

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FO039THE NATIONAL STUDY OF MEMBRANOPROLIFERATIVE GLOMERULONEPHRTIS AND C3 GLOMERULOPATHY - CHARACTERISATION OF THE PAEDIATRIC COHORT

Nephrology, dialysis, transplantation, 2015-05, Vol.30 (suppl_3), p.iii19-iii19

2015

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Sarcoidosis presenting with hypercalcaemia following withdrawal of long-term immunosuppression in renal transplantation

Oxford medical case reports, 2014, Vol.2014 (5), p.86-88

2014

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Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD

A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration

Diseases of complement dysregulation—an overview

Hemolytic Uremic Syndrome in Pregnancy and Postpartum

Making sense of the spectrum of glomerular disease associated with complement dysregulation

Complement therapy in atypical haemolytic uraemic syndrome (aHUS)

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome

Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland

An extended mini-complement factor H molecule ameliorates experimental C3 glomerulopathy

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study

C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes

Thrombotic Microangiopathy in Inverted Formin 2 - Mediated Renal Disease

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

Successful management of bilateral emphysematous pyelonephritis in end-stage polycystic kidneys: bilateral native nephrectomies and preservation of functioning renal transplant

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

Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri

Sarcoidosis presenting with hypercalcaemia following withdrawal of long-term immunosuppression in renal transplantation

The long-acting C5 inhibitor, Ravulizumab, is effective and safe in adult patients with atypical hemolytic uremic syndrome naïve to complement inhibitor treatment

SP018CHARACTERISATION OF A C3 MUTATION WITH INCREASED RESISTANCE TO COMPLEMENT REGULATION IN AN INDIVIDUAL WITH RECURRENT C3GN IN A RENAL TRANSPLANT

FO039THE NATIONAL STUDY OF MEMBRANOPROLIFERATIVE GLOMERULONEPHRTIS AND C3 GLOMERULOPATHY - CHARACTERISATION OF THE PAEDIATRIC COHORT

Sarcoidosis presenting with hypercalcaemia following withdrawal of long-term immunosuppression in renal transplantation

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