List of works - Gianluca Caridi

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

scientific article

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

scientific article

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

scientific article

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.

scientific article

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

scientific article

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

article

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

scientific article

Broadening the spectrum of diseases related to podocin mutations

scientific article

Mutations in DSTYK and dominant urinary tract malformations

scientific article

Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor-dependent idiopathic nephrotic syndrome

scientific article published on 05 June 2013

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

scientific article

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

scientific article

Uromodulin storage diseases: clinical aspects and mechanisms

scientific article

Prevalence, Genetics, and Clinical Features of Patients Carrying Podocin Mutations in Steroid-Resistant Nonfamilial Focal Segmental Glomerulosclerosis

scientific article published on December 1, 2001

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

article

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

article

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

scientific article

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms

scientific article

Genotype–phenotype associations in WT1 glomerulopathy

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

scientific article

Active Focal Segmental Glomerulosclerosis Is Associated with Massive Oxidation of Plasma Albumin

scientific article published on 07 February 2007

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds

scientific article

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

scientific article

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

scientific article

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

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

Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome

scientific article

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study

scientific article published on 5 December 2017

Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective study

scientific article published on September 2004

Depletion of clusterin in renal diseases causing nephrotic syndrome

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

scientific article

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

scientific article

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

scientific journal article

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

scientific article published on 14 May 2009

Anti-CD20 Antibodies for Idiopathic Nephrotic Syndrome in Children

scientific article published on 19 November 2015

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association

scientific article published on 9 August 2006

Induction of apoptosis in human neuroblastoma cells by abrogation of integrin-mediated cell adhesion

scientific article published on 01 March 1997

Familial forms of nephrotic syndrome.

scientific article published on 09 December 2008

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

scientific article published on 30 April 2009

Congenital analbuminaemia: Molecular defects and biochemical and clinical aspects

scientific article published on April 21, 2013

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

scientific article published on 26 January 2007

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

article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Collapsing glomerulopathy associated with inherited mitochondrial injury

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

scientific article

Immature Renal Structures Associated With a Novel UMOD Sequence Variant

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

scientific article

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability

scientific article published on 17 December 2013

Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.

scientific article

List of works by Gianluca Caridi

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

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

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

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

Broadening the spectrum of diseases related to podocin mutations

Mutations in DSTYK and dominant urinary tract malformations

Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor-dependent idiopathic nephrotic syndrome

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

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

Uromodulin storage diseases: clinical aspects and mechanisms

Prevalence, Genetics, and Clinical Features of Patients Carrying Podocin Mutations in Steroid-Resistant Nonfamilial Focal Segmental Glomerulosclerosis

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

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms

Genotype–phenotype associations in WT1 glomerulopathy

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

Active Focal Segmental Glomerulosclerosis Is Associated with Massive Oxidation of Plasma Albumin

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

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

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

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

Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study

Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective study

Depletion of clusterin in renal diseases causing nephrotic syndrome

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

Anti-CD20 Antibodies for Idiopathic Nephrotic Syndrome in Children

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association

Induction of apoptosis in human neuroblastoma cells by abrogation of integrin-mediated cell adhesion

Familial forms of nephrotic syndrome.

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

Congenital analbuminaemia: Molecular defects and biochemical and clinical aspects

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

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

Expanding CEP290 mutational spectrum in ciliopathies

Collapsing glomerulopathy associated with inherited mitochondrial injury

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

Immature Renal Structures Associated With a Novel UMOD Sequence Variant

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability

Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.