about
Mutations in DSTYK and dominant urinary tract malformationsThe molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian familiesCD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).Natural history of congenital dyserythropoietic anemia type II.Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).Targeting the JAK/STAT pathway in cytotoxic T lymphocytes (CTL) by Next Generation Sequencing (NGS).Copy-number disorders are a common cause of congenital kidney malformationsClinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.Sirolimus and proteinuria in renal transplant patients: evidence for a dose-dependent effect on slit diaphragm-associated proteins.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?VHL gene alterations in Italian patients with isolated renal cell carcinomas.Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathyExome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndromePosttransplant Recurrence of Proteinuria in a Case of Focal Segmental Glomerulosclerosis Associated with WT1 MutationWT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypesAcquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney diseaseA 79 year old man with chronic lymphocytic leukemia and nephrotic syndromeIdentification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)Ext-mutation analysis in Italian sporadic and hereditary osteochondromasThe copy number variation landscape of congenital anomalies of the kidney and urinary tractAuthor Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Maddalena Gigante
@ast
Maddalena Gigante
@en
Maddalena Gigante
@es
Maddalena Gigante
@nl
Maddalena Gigante
@sl
type
label
Maddalena Gigante
@ast
Maddalena Gigante
@en
Maddalena Gigante
@es
Maddalena Gigante
@nl
Maddalena Gigante
@sl
prefLabel
Maddalena Gigante
@ast
Maddalena Gigante
@en
Maddalena Gigante
@es
Maddalena Gigante
@nl
Maddalena Gigante
@sl
P1053
R-4369-2016
P106
P1153
8571369100
P21
P31
P3829
P496
0000-0001-8228-7639