G. Caridi

L. Gesualdo, G. Ghiggeri, G. Caridi, 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

F. Scolari, A. Amoroso, G. Ghiggeri, 2003, Human molecular genetics.

Immature renal structures associated with a novel UMOD sequence variant.

G. Ghiggeri, G. Caridi, E. Benetti, 2009, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Active focal segmental glomerulosclerosis is associated with massive oxidation of plasma albumin.

F. Scolari, G. Ghiggeri, G. Caridi, 2007, Journal of the American Society of Nephrology : JASN.

Type IV Collagen Mutations in Familial IgA Nephropathy

V. D’Agati, A. Gharavi, K. Kiryluk, 2020, Kidney international reports.

Randomised controlled trial comparing rituximab to mycophenolate mofetil in children and young adults with steroid-dependent idiopathic nephrotic syndrome: study protocol

P. Ravani, G. Ghiggeri, G. Caridi, 2021, BMJ Open.

Alpha-methylacyl-CoA racemase is expressed in a majority of pancreatic neoplasms of neuroendocrine, acinar, and solid pseudopapillary differentiation.

G. Caridi, M. Campagnoli, L. Minchiotti, 2015, Pathology.

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

G. Ardissino, L. Gesualdo, G. Ghiggeri, 2016, Nephron.

A novel hepatocyte nuclear factor-1β (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes

R. Lorini, G. Caridi, C. Minetti, 2002, Diabetologia.

A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family

G. Caridi, F. Lugani, E. Gulec, 2016, Biochemia medica.

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

A. Gharavi, F. Scolari, S. Sanna-Cherchi, 2007, Pediatric Nephrology.

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

A. Anarat, G. Ardissino, G. Ghiggeri, 2013, Kidney international.

Cell-speciﬁc regulation of a 1 (III ) and a 2 ( V ) collagen by TGF- b 1 in tubulointerstitial cell models

R. Ravazzolo, G. Ghiggeri, G. Caridi, 1998 .

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

R. Lifton, B. Julian, C. Nelson-Williams, 2000, Nature Genetics.

Urine proteome analysis in Dent's disease shows high selective changes potentially involved in chronic renal damage.

E. Tosetto, F. Anglani, A. Scaloni, 2016, Journal of proteomics.

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

G. Caridi, L. Murer, R. Gusmano, 1998, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects

G. Caridi, F. Lugani, M. Galliano, 2022, International journal of molecular sciences.

Congenital analbuminaemia diagnosed in adulthood in an Australian family.

G. Caridi, D. van der Poorten, M. Campagnoli, 2015, Pathology.

A DNA element in the alpha1 type III collagen promoter mediates a stimulatory response by angiotensin II.

R. Ravazzolo, G. Caridi, R. Oleggini, 2000, Kidney international.

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

E. Bertini, F. Santorelli, G. Ghiggeri, 2007, Journal of the American Society of Nephrology : JASN.

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

R. Ravazzolo, T. Hensle, A. Gharavi, 2005, Journal of the American Society of Nephrology : JASN.

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

G. Gimelli, G. Caridi, M. G. Baglietto, 2014, European journal of medical genetics.

Research update for articles published in EJCI in 2013

R. Abbate, B. Miazgowski, T. Miazgowski, 2015, European journal of clinical investigation.

Apoptosis of Human Neuroblastoma Cells Induced by Liposome-Encapsulated Fenretinide

G. Caridi, T. Allen, G. Pagnan, 1998 .

APOPTOSIS OF HUMAN NEUROBLASTOMA ENCAPSULATED FENRETINIDE CELLS INDUCED BY LIPOSOME

G. Caridi, G. Pagnan, M. Ponzoni, 1998 .

Refractory Minimal Change Disease and Focal Segmental Glomerular Sclerosis Treated With Anakinra

G. Ghiggeri, G. Caridi, F. Lugani, 2021 .

Refractory minimal change disease and FSGS treated with Anakinra

G. Ghiggeri, G. Caridi, F. Lugani, 2021, Kidney International Reports.

Nephronophthisis-medullary cystic disease: clinical and genetic aspects.

G. Ghiggeri, G. Caridi, R. Gusmano, 1998, Journal of nephrology.

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

G. Cavalleri, J. Divers, F. Scolari, 2020, Kidney international reports.

Mapping of the human COL5A1 gene to chromosome 9q34.3

G. Gimelli, G. Ghiggeri, G. Caridi, 1992, Human Genetics.

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

E. Tosetto, F. Anglani, A. D'Angelo, 2009, Pediatric Nephrology.

Multi-population genome wide association study implicates both immune and non-immune factors in the etiology of pediatric steroid sensitive nephrotic syndrome

V. Tasic, E. Fiaccadori, A. Gharavi, 2022, medRxiv.

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

L. Gesualdo, G. Ghiggeri, G. Caridi, 2011, Clinical journal of the American Society of Nephrology : CJASN.

Anti-CD20 Antibodies for Idiopathic Nephrotic Syndrome in Children.

P. Ravani, G. Ghiggeri, G. Caridi, 2016, Clinical journal of the American Society of Nephrology : CJASN.

Anti-CD 20 Antibodies for Idiopathic Nephrotic Syndrome in Children

P. Ravani, G. Ghiggeri, G. Caridi, 2016 .

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

G. Caridi, F. Lugani, M. Galliano, 2019, Front. Genet..

A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.

G. Caridi, F. Lugani, M. Galliano, 2019, European journal of medical genetics.

Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene

G. Caridi, M. Galliano, M. Dagnino, 2014, Biochemia medica.

Molecular Genetics of Analbuminaemia

G. Caridi, M. Galliano, T. Peters, 2014 .

A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia

G. Caridi, M. Galliano, S. Santra, 2012, Clinical chemistry and laboratory medicine.

A novel two bases deletion in the albumin gene causes analbuminaemia in a young Turkish man.

G. Caridi, M. Galliano, K. Demır, 2012, Clinica chimica acta; international journal of clinical chemistry.

A novel splicing mutation causes analbuminemia in a Portuguese boy.

G. Caridi, M. Galliano, M. Dagnino, 2012, Molecular genetics and metabolism.

Collapsing glomerulopathy associated with inherited mitochondrial injury.

F. Santorelli, G. Ghiggeri, G. Caridi, 2008, Kidney international.

Uromodulin storage diseases: clinical aspects and mechanisms.

F. Scolari, C. Izzi, A. Amoroso, 2004, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12.

F. Scolari, B. F. Viola, A. Amoroso, 2001, JN. Journal of Nephrology (Milano. 1992).

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern

G. Caridi, M. Severino, D. Tortora, 2020, Brain and Development.

Familial forms of nephrotic syndrome

S. Sanna-Cherchi, G. Ghiggeri, G. Caridi, 2010, Pediatric Nephrology.

Depletion of clusterin in renal diseases causing nephrotic syndrome.

M. Rastaldi, F. Scolari, G. Ghiggeri, 2002, Kidney international.

Recurrent lymphomatoid papulosis associated with nephrotic syndrome. An occurrence of uncertain origin

G. Ghiggeri, G. Caridi, C. Gambini, 2009, Pediatric Nephrology.

Expression of collagen by renal fibroblasts treated with FK 506 in vitro.

R. Ravazzolo, G. Ghiggeri, G. Caridi, 1998, Transplantation proceedings.

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood.

F. Scolari, S. Sanna-Cherchi, G. Ghiggeri, 2003, Kidney international.

Broadening the spectrum of diseases related to podocin mutations.

G. Mazzucco, G. Rizzoni, F. Scolari, 2003, Journal of the American Society of Nephrology : JASN.

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

G. Caridi, G. Pagnan, M. Ponzoni, 1997, International journal of cancer.

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

A. Edefonti, F. Scolari, P. Ravani, 2013, Kidney international.

The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia.

F. Scolari, C. Izzi, N. Dallera, 2014, Kidney international.

Medullary cystic kidney disease: past and present.

F. Scolari, B. F. Viola, A. Amoroso, 2001, Contributions to nephrology.

Extracellular matrix formation by epithelial cells from human polycystic kidney cysts in culture

G. Ghiggeri, G. Caridi, A. Sessa, 1993, Virchows Archiv. B, Cell pathology including molecular pathology.

Adverse events linked with the use of chimeric and humanized anti‐CD20 antibodies in children with idiopathic nephrotic syndrome

P. Ravani, G. Ghiggeri, G. Caridi, 2018, British journal of clinical pharmacology.

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

R. Ravazzolo, P. Noris, G. Ghiggeri, 2003, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Recurrent Hypoglycemia in a Case of Congenital Analbuminemia

G. Caridi, F. Lugani, M. Campagnoli, 2020, Case reports in endocrinology.

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

L. Gesualdo, G. Ghiggeri, G. Caridi, 2006, Pediatric Nephrology.

Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening.

G. Ghiggeri, G. Caridi, F. Ginevri, 2000, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis.

M. Rastaldi, F. Scolari, S. Sanna-Cherchi, 2003, Kidney international.

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

L. Gesualdo, G. Ghiggeri, G. Caridi, 2014, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

NPHS2 (Podocin) Mutations in Nephrotic Syndrome. Clinical Spectrum and Fine Mechanisms

G. Ghiggeri, G. Caridi, F. Perfumo, 2005, Pediatric Research.

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

G. Ghiggeri, G. Caridi, P. Catarsi, 2001, Journal of the American Society of Nephrology : JASN.

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review

G. Ghiggeri, G. Caridi, F. Lugani, 2022, Journal of clinical medicine.

Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.

G. Caridi, F. Hildebrandt, E. Otto, 2001, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Rituximab vs Low-Dose Mycophenolate Mofetil In Recurrence of Steroid-Dependent Nephrotic Syndrome in Children and Young Adults: A Randomized Clinical Trial.

P. Ravani, G. Ghiggeri, G. Caridi, 2021, JAMA pediatrics.

Low-dose ofatumumab for multidrug-resistant nephrotic syndrome in children: a randomized placebo-controlled trial

P. Ravani, G. Ghiggeri, G. Caridi, 2020, Pediatric Nephrology.

[TRPC6 mutations in children with steroid-resistant nephrotic syndrome].

L. Gesualdo, G. Ghiggeri, G. Caridi, 2011, Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia.

Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure

G. Caridi, G. Minniti, M. Calevo, 2003, Pediatric Nephrology.

Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).

G. Caridi, M. Galliano, L. Palmqvist, 2008, Clinica chimica acta; international journal of clinical chemistry.

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus.

F. Scolari, B. F. Viola, A. Amoroso, 1998, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

T. Abe, T. Hurd, G. Ghiggeri, 2013, Journal of the American Society of Nephrology : JASN.

GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

F. Kronenberg, P. Gregersen, C. Wijmenga, 2021, medRxiv.

Glomerulocystic kidney disease in hypomelanosis of Ito

G. Ghiggeri, G. Caridi, F. Emma, 2008, Pediatric Nephrology.

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

U Magrini, R. Ravazzolo, P. Noris, 2000, Nature genetics.

Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11–q13

R. Ravazzolo, G. Russo, G. Ghiggeri, 2000, European Journal of Human Genetics.

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

Stephan J Sanders, V. Jobanputra, W. Chung, 2012, American journal of human genetics.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

Thévenod life-and-death decisions ? A role for mitochondrial aquaporins in cellular

F. Santorelli, G. Caridi, A. O. Muda, 2006 .

Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.

G. Ghiggeri, G. Caridi, F. Emma, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

Madeline A. Lancaster, A. D. den Hollander, F. Cremers, 2010, Nature Genetics.

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

T. Palomero, V. D’Agati, H. Kim, 2011, Kidney international.

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

A. Edefonti, R. Coppo, L. Gesualdo, 2009, Clinical journal of the American Society of Nephrology : CJASN.

Molecular and Cellular Mechanisms for Proteinuria in Minimal Change Disease

G. Ghiggeri, G. Caridi, A. Bonanni, 2018, Front. Med..

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

R. Ravazzolo, R. Burk, R. Cheng, 2009, Journal of the American Society of Nephrology : JASN.

Mutations in SOX17 are Associated with Congenital Anomalies of the Kidney and the Urinary Tract

S. Gimelli, G. Gimelli, G. Ghiggeri, 2010, Human mutation.

Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus.

H. Omran, G. Caridi, F. Hildebrandt, 1999, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

A. Ballabio, P. Aridon, F. Scolari, 1999, American journal of human genetics.

Expression of Nuclear Transcription Factor PAX2 in Renal Biopsies of Juvenile Nephronophthisis

G. Ghiggeri, G. Caridi, G. Montini, 2002, Nephron.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease

V. Jobanputra, V. D’Agati, C. Antignac, 2018, Annals of Internal Medicine.

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

D. Lazarević, F. Scolari, C. Izzi, 2019, Scientific Reports.

Analbuminemia Zonguldak: case report and mutational analysis.

G. Caridi, M. Galliano, B. Sancak, 2008, Clinical biochemistry.

Analbuminemia produced by a novel splicing mutation.

G. Caridi, M. Galliano, M. Dagnino, 2007, Clinical chemistry.

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

E. Bertini, R. Borgatti, E. Valente, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The “Fil Rouge” of Treg Between IPEX Features and Other Clinical Entities?

E. Fiaccadori, G. Ghiggeri, G. Caridi, 2022, Frontiers in Immunology.

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

L. Sussel, A. Gharavi, Ruth A Singer, 2013, PLoS genetics.

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

R. Ravazzolo, A. Gharavi, F. Scolari, 2007, American journal of human genetics.

Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia

G. Caridi, M. Calvillo, C. Dufour, 2010, Haematologica.

The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer.

R. Ravazzolo, G. Caridi, R. Cusano, 2003, Gene expression.

Post-transplant recurrence of steroid resistant nephrotic syndrome in children: the Italian experience

S. Testa, L. Peruzzi, G. Ghiggeri, 2019, Journal of Nephrology.

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

S. Gimelli, G. Gimelli, G. Caridi, 2013, Molecular Cytogenetics.

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

S. Gimelli, G. Gimelli, G. Caridi, 2013, Molecular Cytogenetics.

crv 4 , a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 ( Grm 1 )

R. Ravazzolo, A. Fairén, M. Cilli, 2022 .

Glomerulocystic kidney disease in a family.

G. Ghiggeri, G. Caridi, I. Ceccherini, 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

G. Rizzoni, F. Scolari, S. Sanna-Cherchi, 2003, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Minimal-change nephropathy and chronic hepatitis C infection : coincidental or associated ?

R. Coppo, A. Amore, G. Ghiggeri, 2007 .

Anti-glutathione S-transferase theta 1 antibodies correlate with graft loss in non-sensitized pediatric kidney recipients

G. Ghiggeri, G. Caridi, C. Klersy, 2022, Frontiers in Medicine.

COVID-19 in Children with Nephrotic Syndrome on Anti-CD20 Chronic Immunosuppression.

G. Ghiggeri, G. Caridi, P. Cravedi, 2020, Clinical journal of the American Society of Nephrology : CJASN.

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

G. Ghiggeri, G. Caridi, L. Musante, 2002, Journal of the American Society of Nephrology : JASN.

Glomerular albumin permeability as an in vitro model for characterizing the mechanism of focal glomerulosclerosis and predicting post‐transplant recurrence

G. Ghiggeri, G. Caridi, F. Ginevri, 2004, Pediatric transplantation.

S. Sanna-Cherchi, G. Ghiggeri, G. Caridi, 2006 .

Direct effect of plasma permeability factors from patients with idiopatic FSGS on nephrin and podocin expression in human podocytes.

G. Camussi, G. Ghiggeri, G. Caridi, 2005, International journal of molecular medicine.

Vaccines and nephrotic syndrome: efficacy and safety

G. Ghiggeri, G. Caridi, F. Lugani, 2022, Pediatric Nephrology.

Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene

G. Caridi, M. Galliano, M. Dagnino, 2011, International journal of molecular sciences.

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

R. Ravazzolo, M. Rastaldi, G. Caridi, 2011, The American journal of pathology.

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

L. Gesualdo, G. Caridi, M. Gigante, 2006, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria.

G. Ghiggeri, G. Caridi, F. Perfumo, 2004, Kidney international.

Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases.

S. Parodi, F. Scolari, S. Sanna-Cherchi, 2006, Kidney international.

Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.

R. Coppo, G. Camussi, F. Scolari, 2006, Gene Expression.

Cell-specific regulation of alpha1(III) and alpha2(V) collagen by TGF-beta1 in tubulointerstitial cell models.

R. Ravazzolo, G. Botti, G. Ghiggeri, 1998, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

A. Gharavi, F. Scolari, S. Sanna-Cherchi, 2007, Pediatric nephrology (Berlin, West).

Circulating Anti-Rituximab Antibodies Do Not Affect Response to Rituximab in Steroid-Dependent Nephrotic Syndrome

P. Ravani, G. Ghiggeri, G. Caridi, 2022, Kidney international reports.

Lack of cardiac anomalies in children with NPHS2 mutations.

R. Coppo, A. Amore, G. Ghiggeri, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman.

G. Caridi, M. Galliano, R. Kazancioglu, 2010, Clinica chimica acta; international journal of clinical chemistry.

A novel frame‐shift deletion causing analbuminaemia in an Italian paediatric patient

F. Chiodo, G. Caridi, M. Galliano, 2010, European journal of clinical investigation.

A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia

G. Caridi, F. Lugani, M. Galliano, 2020, British journal of biomedical science.

A novel splicing mutation in the ALB gene causing analbuminaemia in a Portuguese woman.

G. Caridi, F. Lugani, M. Galliano, 2018, Pathology.

Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene

G. Caridi, F. Lugani, M. Galliano, 2017, Annals of laboratory medicine.

A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy

G. Caridi, M. Galliano, M. Dagnino, 2009, Clinical chemistry and laboratory medicine.

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

E. Bertini, E. Valente, G. Caridi, 2006, Kidney international.

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.

R. Ravazzolo, G. Ghiggeri, G. Caridi, 2004, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Genetic risk factors in typical haemolytic uraemic syndrome.

S. Ferracuti, A. Edefonti, L. Mannucci, 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Teaching molecular genetics: chapter 4—positional cloning of genetic disorders

R. Ravazzolo, G. Ghiggeri, G. Caridi, 2007, Pediatric Nephrology.

Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

G. Gimelli, G. Ghiggeri, G. Caridi, 1993, Human Genetics.

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

F. Scolari, C. Izzi, A. Amoroso, 2012, Kidney international.

Juvenile nephronophthisis and related variants: clinical features and molecular approach.

G. Ghiggeri, G. Caridi, A. Carrea, 2001, Contributions to nephrology.

Literature Abstracts

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crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1).

Valerio Conti, Roberto Ravazzolo, Maura Castagna, 2006, International journal of molecular medicine.

Albumin Benkovac (c.1175 A > G; p.Glu392Gly): a novel genetic variant of human serum albumin.

A. Šimundić, G. Caridi, M. Galliano, 2010, Translational research : the journal of laboratory and clinical medicine.

Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion

G. Ghiggeri, G. Caridi, A. Puliti, 2021, Journal of Nephrology.

A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant

G. Caridi, F. Lugani, M. Galliano, 2016, Annals of clinical biochemistry.

N-(4-hydroxyphenyl) retinamide inhibits cystogenesis by polycystic epithelial cell lines in vitro.

G. Caridi, P. Altieri, M. Ponzoni, 1999, Life sciences.

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

F. Kronenberg, P. Gregersen, C. Wijmenga, 2023, Nature Genetics.

Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait

G. Ghiggeri, G. Caridi, M. Abbaszadegan, 2010, Pediatric Nephrology.

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

M. Accetturo, L. Gesualdo, G. Caridi, 2017, Clinical genetics.

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

G. Ghiggeri, G. Caridi, S. Tosatto, 2010, Clinical journal of the American Society of Nephrology : CJASN.

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

S. Raychaudhuri, V. Tasic, R. Loos, 2023, Nature communications.

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

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RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

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A Novel WT 1 Gene Mutation in a Three-Generation Family with Progressive Isolated Focal Segmental Glomerulosclerosis

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Biologics in steroid resistant nephrotic syndrome in childhood: review and new hypothesis-driven treatment

G. Ghiggeri, G. Caridi, F. Lugani, 2023, Frontiers in immunology.

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.

F. Scolari, G. Ghiggeri, G. Caridi, 2000, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

E. Bertini, F. Santorelli, G. Ghiggeri, 2007, Journal of the American Society of Nephrology.

Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.

G. Caridi, M. Galliano, T. Peters, 2013, Biochimica et biophysica acta.

Microplastics and Kidneys: An Update on the Evidence for Deposition of Plastic Microparticles in Human Organs, Tissues and Fluids and Renal Toxicity Concern

G. Ghiggeri, G. Caridi, F. Lugani, 2023, International journal of molecular sciences.

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

F. Scolari, C. Izzi, A. Amoroso, 2012, Kidney international.

Novel biomarkers and pathophysiology of membranous nephropathy: PLA2R and beyond

M. Prunotto, G. Ghiggeri, G. Caridi, 2023, Clinical kidney journal.

Combined Rituximab and Daratumumab Treatment in Difficult-to-Treat Nephrotic Syndrome Cases

G. Ghiggeri, G. Caridi, P. Cravedi, 2024, Kidney international reports.

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

L. Sussel, A. Gharavi, Ruth A Singer, 2013, PLoS genetics.