List of works - Maddalena Gigante

A 79 year old man with chronic lymphocytic leukemia and nephrotic syndrome

scientific article published on 29 April 2011

A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).

scientific article

A type I interferon signature characterizes chronic antibody-mediated rejection in kidney transplantation

scientific article published on 04 June 2015

Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney disease

scientific article published on 01 August 2014

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 01 April 2019

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation ⬇️

scientific article published on March 18, 2013

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

scientific article

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations

scientific article published on 30 April 2009

Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.

scientific article

Constitutional Nephrin Deficiency in Conditionally Immortalized Human Podocytes Induced Epithelial-Mesenchymal Transition, Supported by β-Catenin/NF-kappa B Activation: A Consequence of Cell Junction Impairment?

scientific article published on 24 November 2013

Copy-number disorders are a common cause of congenital kidney malformations

scientific article

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

scientific article

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

article

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

scientific article published in November 2017

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

scientific article published in December 2017

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas

article

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants

scientific article

Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis

scientific article

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

article

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

scientific article

Mutations in DSTYK and dominant urinary tract malformations

scientific article

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

scientific article published on 09 December 2013

Natural history of congenital dyserythropoietic anemia type II.

scientific article

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy

article

Posttransplant Recurrence of Proteinuria in a Case of Focal Segmental Glomerulosclerosis Associated with WT1 Mutation

scientific article published on 19 June 2006

Sirolimus and proteinuria in renal transplant patients: evidence for a dose-dependent effect on slit diaphragm-associated proteins.

scientific article published on May 2011

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype

scientific article

Targeting the JAK/STAT pathway in cytotoxic T lymphocytes (CTL) by Next Generation Sequencing (NGS).

scientific article

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 21 December 2018

The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families

scientific article

VHL gene alterations in Italian patients with isolated renal cell carcinomas

scientific article

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes

miR-29b and miR-198 overexpression in CD8+ T cells of renal cell carcinoma patients down-modulates JAK3 and MCL-1 leading to immune dysfunction.

scientific article published on 11 April 2016

List of works by Maddalena Gigante

A 79 year old man with chronic lymphocytic leukemia and nephrotic syndrome

A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).

A type I interferon signature characterizes chronic antibody-mediated rejection in kidney transplantation

Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney disease

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation ⬇️

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations

Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.

Constitutional Nephrin Deficiency in Conditionally Immortalized Human Podocytes Induced Epithelial-Mesenchymal Transition, Supported by β-Catenin/NF-kappa B Activation: A Consequence of Cell Junction Impairment?

Copy-number disorders are a common cause of congenital kidney malformations

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants

Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

Mutations in DSTYK and dominant urinary tract malformations

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

Natural history of congenital dyserythropoietic anemia type II.

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy

Posttransplant Recurrence of Proteinuria in a Case of Focal Segmental Glomerulosclerosis Associated with WT1 Mutation

Sirolimus and proteinuria in renal transplant patients: evidence for a dose-dependent effect on slit diaphragm-associated proteins.

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype

Targeting the JAK/STAT pathway in cytotoxic T lymphocytes (CTL) by Next Generation Sequencing (NGS).

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families

VHL gene alterations in Italian patients with isolated renal cell carcinomas

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes

miR-29b and miR-198 overexpression in CD8+ T cells of renal cell carcinoma patients down-modulates JAK3 and MCL-1 leading to immune dysfunction.