List of works - Olivia Boyer

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

scientific article published on 16 May 2018

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

scientific article

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

scientific article

Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy

scientific article

Anti-Factor B Antibodies and Acute Postinfectious GN in Children

scientific article published on 07 February 2020

Antiglomerular basement disease in children: Literature review and therapeutic options

scientific article published on 15 September 2017

Association between 25(OH) vitamin D and graft survival in renal transplanted children

scientific article published on 26 August 2020

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

scientific article published on 23 October 2017

Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study

scientific article published on 12 February 2015

Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome.

scientific article published on 08 October 2009

Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits

scientific article

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

scientific article published on 2 July 2015

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

scientific article published on 26 October 2018

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

scientific article published on 03 September 2019

Donor-targeted serotherapy as a rescue therapy for steroid-resistant acute GVHD after HLA-mismatched kidney transplantation

scientific article published on 17 February 2020

Early Bayesian Dose Adjustment of Vancomycin Continuous Infusion in Children: a Randomized Controlled Trial

scientific article published on 07 October 2019

Early and Late Factors Impacting Patient and Graft Outcome in Pediatric Liver Transplantation: Summary of an ESPGHAN Monothematic Conference

scientific article published on 17 March 2017

Epidemiology of idiopathic nephrotic syndrome in children: endemic or epidemic?

scientific article

Erratum

scientific article published on 22 December 2020

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

scientific article

Five-year outcome of children with idiopathic nephrotic syndrome: the NEPHROVIR population-based cohort study

scientific article published on 14 December 2018

Focal and segmental glomerulosclerosis in children: a longitudinal assessment.

scientific article

Genetic forms of nephrotic syndrome: a single-center experience in Brussels

scientific article published on 16 August 2008

Hemolytic uremic syndrome: new developments in pathogenesis and treatment

scientific article

Hereditary Podocytopathies in Adults: The Next Generation.

scientific article published on 31 May 2017

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

scientific article published on 01 January 2020

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

scientific article

Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults

scientific article published on 01 November 2018

Idiopathic nephrotic syndrome

scientific article published on 20 November 2017

Immunoadsorption in Anti-GBM Glomerulonephritis: Case Report in a Child and Literature Review

scientific article

Immunoglobulin serum levels in rituximab-treated patients with steroid-dependent nephrotic syndrome

scientific article published on 08 November 2019

Improvement of renal function in pediatric heart transplant recipients treated with low-dose calcineurin inhibitor and mycophenolate mofetil

scientific article published in May 2005

Influenza vaccination among children with idiopathic nephrotic syndrome: an investigation of practices

scientific article published on 25 February 2019

Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence

scientific article

LMX1B mutations cause hereditary FSGS without extrarenal involvement

scientific article published on 16 May 2013

Left lateral retroperitoneoscopic total nephrectomy of a horseshoe kidney in a 3-year-old boy

scientific article published on 07 August 2019

Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience

scientific article published on 11 February 2020

Long-term remission of atypical HUS with anti-factor H antibodies after cyclophosphamide pulses

scientific article

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

scientific article

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

scientific article published on 10 August 2017

Massive Gorham-Stout syndrome of the pelvis

scientific article

Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome

scientific article published on 2 April 2008

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

article

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

scientific article published on 21 January 2011

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

scientific article published on 06 February 2017

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum

scientific article published on 09 December 2013

Nephrotic syndrome in Kawasaki disease: a report of three cases.

scientific article published on 24 April 2012

Nephrotic syndrome: Rituximab in childhood steroid-dependent nephrotic syndrome

scientific article

Neurological involvement in a child with atypical hemolytic uremic syndrome

scientific article

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.

scientific article published on March 2014

Notions récentes sur la génétique du syndrome néphrotique cortico-résistant

scientific article published on 01 June 2009

Papillary stones with Randall's plaques in children: clinicobiological features and outcome

scientific article published on 03 August 2011

Pharmacokinetics of Enoxaparin After Renal Transplantation in Pediatric Patients

scientific article published on 26 September 2018

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

scientific article

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome

scientific article

Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth

article

Pulse cyclophosphamide therapy and clinical remission in atypical hemolytic uremic syndrome with anti-complement factor H autoantibodies

scientific article

Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.

scientific article

Renal failure in pediatric Castleman disease: Four French cases with thrombotic microangiopathy

scientific article published on 30 March 2018

Renal function and histology in children after small bowel transplantation

scientific article published on 09 August 2012

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

scientific article published on 10 January 2017

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

scientific article published on 14 May 2013

Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein

scientific article

Reversible cerebral vasoconstriction syndrome in paediatric patients with systemic lupus erythematosus: implications for management

scientific article published on 23 September 2018

Short- and long-term efficacy of levamisole as adjunctive therapy in childhood nephrotic syndrome.

scientific article

Steroid therapy in children with IgA nephropathy

scientific article published on 18 February 2019

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

scientific article published on 17 January 2019

The genetics of steroid-resistant nephrotic syndrome in adults

scientific article published on 10 February 2020

Treatment and long-term outcome in primary distal renal tubular acidosis

scientific article published on 01 June 2019

Treatment and outcome of congenital nephrotic syndrome

scientific article published on 20 February 2018

Treatments of steroid-dependent nephrotic syndrome in children

scientific article published on 13 November 2017

Variability of diagnostic criteria and treatment of idiopathic nephrotic syndrome across European countries

scientific article

List of works by Olivia Boyer

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy

Anti-Factor B Antibodies and Acute Postinfectious GN in Children

Antiglomerular basement disease in children: Literature review and therapeutic options

Association between 25(OH) vitamin D and graft survival in renal transplanted children

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study

Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome.

Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Donor-targeted serotherapy as a rescue therapy for steroid-resistant acute GVHD after HLA-mismatched kidney transplantation

Early Bayesian Dose Adjustment of Vancomycin Continuous Infusion in Children: a Randomized Controlled Trial

Early and Late Factors Impacting Patient and Graft Outcome in Pediatric Liver Transplantation: Summary of an ESPGHAN Monothematic Conference

Epidemiology of idiopathic nephrotic syndrome in children: endemic or epidemic?

Erratum

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

Five-year outcome of children with idiopathic nephrotic syndrome: the NEPHROVIR population-based cohort study

Focal and segmental glomerulosclerosis in children: a longitudinal assessment.

Genetic forms of nephrotic syndrome: a single-center experience in Brussels

Hemolytic uremic syndrome: new developments in pathogenesis and treatment

Hereditary Podocytopathies in Adults: The Next Generation.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults

Idiopathic nephrotic syndrome

Immunoadsorption in Anti-GBM Glomerulonephritis: Case Report in a Child and Literature Review

Immunoglobulin serum levels in rituximab-treated patients with steroid-dependent nephrotic syndrome

Improvement of renal function in pediatric heart transplant recipients treated with low-dose calcineurin inhibitor and mycophenolate mofetil

Influenza vaccination among children with idiopathic nephrotic syndrome: an investigation of practices

Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence

LMX1B mutations cause hereditary FSGS without extrarenal involvement

Left lateral retroperitoneoscopic total nephrectomy of a horseshoe kidney in a 3-year-old boy

Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience

Long-term remission of atypical HUS with anti-factor H antibodies after cyclophosphamide pulses

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Massive Gorham-Stout syndrome of the pelvis

Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum

Nephrotic syndrome in Kawasaki disease: a report of three cases.

Nephrotic syndrome: Rituximab in childhood steroid-dependent nephrotic syndrome

Neurological involvement in a child with atypical hemolytic uremic syndrome

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.

Notions récentes sur la génétique du syndrome néphrotique cortico-résistant

Papillary stones with Randall's plaques in children: clinicobiological features and outcome

Pharmacokinetics of Enoxaparin After Renal Transplantation in Pediatric Patients

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome

Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth

Pulse cyclophosphamide therapy and clinical remission in atypical hemolytic uremic syndrome with anti-complement factor H autoantibodies

Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.

Renal failure in pediatric Castleman disease: Four French cases with thrombotic microangiopathy

Renal function and histology in children after small bowel transplantation

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein

Reversible cerebral vasoconstriction syndrome in paediatric patients with systemic lupus erythematosus: implications for management

Short- and long-term efficacy of levamisole as adjunctive therapy in childhood nephrotic syndrome.

Steroid therapy in children with IgA nephropathy

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

The genetics of steroid-resistant nephrotic syndrome in adults

Treatment and long-term outcome in primary distal renal tubular acidosis

Treatment and outcome of congenital nephrotic syndrome

Treatments of steroid-dependent nephrotic syndrome in children

Variability of diagnostic criteria and treatment of idiopathic nephrotic syndrome across European countries