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Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement

Kidney international, 2013-02, Vol.83 (2), p.293-299

2013

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Early Volume Expansion and Outcomes of Hemolytic Uremic Syndrome

Pediatrics (Evanston), 2016-01, Vol.137 (1)

2016

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A Thiazide Test for the Diagnosis of Renal Tubular Hypokalemic Disorders

Clinical journal of the American Society of Nephrology, 2007-05, Vol.2 (3), p.454-460

2007

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C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab

Nephrology, dialysis, transplantation, 2018-12, Vol.33 (12), p.2260-2265

2018

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Long-term follow-up of patients with Bartter syndrome type I and II

Nephrology, dialysis, transplantation, 2010-09, Vol.25 (9), p.2976-2981

2010

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Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality

Kidney international reports, 2021-06, Vol.6 (6), p.1614-1621

2021

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The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome

The journal of maternal-fetal & neonatal medicine, 2012-11, Vol.25 (11), p.2322-2325

2012

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The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor

Nephrology, dialysis, transplantation, 2011-02, Vol.26 (2), p.557-561

2011

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Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB : Long-Term Management and Outcome

American journal of kidney diseases, 2007-01, Vol.49 (1), p.91-98

2007

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Defining the complement biomarker profile of C3 glomerulopathy

Clinical journal of the American Society of Nephrology, 2014-11, Vol.9 (11), p.1876-1882

2014

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Epidemiology of haemolytic uremic syndrome in children. Data from the North Italian HUS network

European journal of pediatrics, 2016-04, Vol.175 (4), p.465-473

2016

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Soluble C5b-9 as a Biomarker for Complement Activation in Atypical Hemolytic Uremic Syndrome

American journal of kidney diseases, 2015-06, Vol.65 (6), p.968-969

2015

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A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity

Haematologica (Roma), 2015-03, Vol.100 (3), p.e87-e89

2015

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High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

Journal of the American Society of Nephrology, 2016-04, Vol.27 (4), p.1245-1253

2016

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Functional evaluation of rare variants in complement factor I using a minigene assay

Frontiers in immunology, 2024-08, Vol.15, p.1446081

2024

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Factor H Autoantibodies and Complement-Mediated Diseases

Frontiers in immunology, 2020-12, Vol.11, p.607211-607211

2020

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Early Volume Expansion Improves the Outcome of Shigatoxin-Associated Hemolytic Uremic Syndrome. Data from the North Italian HUS Network

Pediatrics (Evanston), 2017-09, Vol.140 (1_MeetingAbstract), p.16-16

2017

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Complement Factor I Variants in Complement-Mediated Renal Diseases

Frontiers in immunology, 2022-05, Vol.13, p.866330-866330

2022

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Familial Atypical Hemolytic Uremic Syndrome : A Review of Its Genetic and Clinical Aspects

Clinical & developmental immunology, 2012-01, Vol.2012 (2012), p.1-9

2012

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Atypical post-infectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement

Kidney international, 2012-12, Vol.83 (2), p.293-299

2012

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Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic bartter syndrome

Pediatric research, 2005-12, Vol.58 (6), p.1269-1273

2005

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Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy

The Journal of immunology (1950), 2018-04, Vol.200 (7), p.2464-2478

2018

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Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome

Journal of the American Society of Nephrology, 2018-12, Vol.29 (12), p.2809-2819

2018

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Combined C2 and C7 deficiencies cause STEC hemolytic uremic syndrome

Molecular immunology, 2018-10, Vol.102, p.187-187

2018

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A common variant in the C7 gene reduces complement activity

Molecular immunology, 2018-10, Vol.102, p.233-233

2018

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Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement

Early Volume Expansion and Outcomes of Hemolytic Uremic Syndrome

A Thiazide Test for the Diagnosis of Renal Tubular Hypokalemic Disorders

C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab

Long-term follow-up of patients with Bartter syndrome type I and II

Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality

The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome

The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor

Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB : Long-Term Management and Outcome

Defining the complement biomarker profile of C3 glomerulopathy

Epidemiology of haemolytic uremic syndrome in children. Data from the North Italian HUS network

Soluble C5b-9 as a Biomarker for Complement Activation in Atypical Hemolytic Uremic Syndrome

A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

Functional evaluation of rare variants in complement factor I using a minigene assay

Factor H Autoantibodies and Complement-Mediated Diseases

Early Volume Expansion Improves the Outcome of Shigatoxin-Associated Hemolytic Uremic Syndrome. Data from the North Italian HUS Network

Complement Factor I Variants in Complement-Mediated Renal Diseases

Familial Atypical Hemolytic Uremic Syndrome : A Review of Its Genetic and Clinical Aspects

Atypical post-infectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic bartter syndrome

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy

Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome

Combined C2 and C7 deficiencies cause STEC hemolytic uremic syndrome

A common variant in the C7 gene reduces complement activity

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