about
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tractMutations in DSTYK and dominant urinary tract malformationsIdentification of a new locus for medullary cystic disease, on chromosome 16p12.Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotypeLocus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutationsAlbumin Benkovac (c.1175 A > G; p.Glu392Gly): a novel genetic variant of human serum albuminRenal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locusAHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisCD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.Genetic risk factors in typical haemolytic uraemic syndrome.A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.Teaching molecular genetics: chapter 4-positional cloning of genetic disorders.Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome.Broadening the spectrum of diseases related to podocin mutations.NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse.COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin.Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene.Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33Uromodulin storage diseases: clinical aspects and mechanisms.Genetic approaches to human renal agenesis/hypoplasia and dysplasia.Copy-number disorders are a common cause of congenital kidney malformationsPodocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected]Anti-CD20 Antibodies for Idiopathic Nephrotic Syndrome in Children.A nucleotide deletion and frame-shift cause analbuminemia in a Turkish familyClinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor-dependent idiopathic nephrotic syndromeFamilial forms of nephrotic syndrome.Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.A DNA element in the alpha1 type III collagen promoter mediates a stimulatory response by angiotensin II.Urine proteome analysis in Dent's disease shows high selective changes potentially involved in chronic renal damage.Research update for articles published in EJCI in 2013.A rare 3q13.31 microdeletion including GAP43 and LSAMP genes
P50
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P50
description
hulumtues
@sq
researcher
@en
ricercatore
@it
wetenschapper
@nl
հետազոտող
@hy
name
Gianluca Caridi
@ast
Gianluca Caridi
@en
Gianluca Caridi
@es
Gianluca Caridi
@nl
Gianluca Caridi
@sl
type
label
Gianluca Caridi
@ast
Gianluca Caridi
@en
Gianluca Caridi
@es
Gianluca Caridi
@nl
Gianluca Caridi
@sl
prefLabel
Gianluca Caridi
@ast
Gianluca Caridi
@en
Gianluca Caridi
@es
Gianluca Caridi
@nl
Gianluca Caridi
@sl
P1053
F-7052-2010
P106
P1153
7003280047
P21
P214
1282148705739237080001
P31
P3829
P496
0000-0001-6700-3001