Lista de obras - Olivia Boyer - Dominio Público Uruguay

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Anti-Factor B Antibodies and Acute Postinfectious GN in Children

artículo científico publicado en 2020

Antiglomerular basement disease in children: Literature review and therapeutic options

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Erratum

artículo científico publicado en 2020

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Focal and segmental glomerulosclerosis in children: a longitudinal assessment.

artículo científico publicado en 2007

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

artículo científico publicado en 2011

Hereditary Podocytopathies in Adults: The Next Generation.

artículo científico publicado en 2017

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

artículo científico publicado en 2020

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Idiopathic nephrotic syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Massive Gorham-Stout syndrome of the pelvis

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Nephrotic syndrome: Rituximab in childhood steroid-dependent nephrotic syndrome

artículo científico publicado en 2013

Neurological involvement in a child with atypical hemolytic uremic syndrome

artículo científico publicado en 2010

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

artículo científico

Notions récentes sur la génétique du syndrome néphrotique cortico-résistant

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Renal function and histology in children after small bowel transplantation

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2019

The genetics of steroid-resistant nephrotic syndrome in adults

artículo científico publicado en 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

artículo científico publicado en 2018

Treatments of steroid-dependent nephrotic syndrome in children

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Lista de obras de 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