C. Izzi

发表

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

Murim Choi, R. Lifton, M. Salvadori, 2014, Nature Genetics.

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

S. Parodi, F. Scolari, S. Sanna-Cherchi, 2009, Kidney international.

Mutations in DSTYK and dominant urinary tract malformations.

R. Ravazzolo, A. Latos-Bieleńska, V. D’Agati, 2013, The New England journal of medicine.

Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease

F. Scolari, C. Izzi, F. Grati, 2020, Kidney international reports.

Uromodulin: from monogenic to multifactorial diseases.

F. Scolari, C. Izzi, G. Ghiggeri, 2015, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

IgA nephropathy--the case for a genetic basis becomes stronger.

A. Gharavi, K. Kiryluk, F. Scolari, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

IgA nephropathy: the presence of familial disease does not confer an increased risk for progression.

F. Scolari, C. Izzi, B. F. Viola, 2006, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis

Loreto Gesualdo, Krzysztof Kiryluk, Murim Choi, 2012, PLoS genetics.

Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study.

R. Lifton, A. Gharavi, F. Scolari, 2006, Kidney international.

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.

K. Tory, C. Shaw-Smith, A. Jakubowska, 2020, Kidney international.

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

A. Edefonti, J. D. den Dunnen, P. Manunta, 2016, Scientific Reports.

Full Reviews Uromodulin: from monogenic to multifactorial diseases

F. Scolari, C. Izzi, G. Ghiggeri, 2015 .

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.

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

Craig S. Wong, H. Hakonarson, C. Willer, 2021, Journal of the American Society of Nephrology : JASN.

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.

Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD

F. Scolari, C. Izzi, C. Schaeffer, 2022, Kidney international reports.

Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis

C. Izzi, U. Pazzaglia, M. Baldi, 2014, Skeletal Radiology.

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.

Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

C. Izzi, F. Prefumo, T. Ghi, 2019, Genetics in Medicine.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

T. Eggermann, C. Izzi, A. Selicorni, 2019, Genetics research.

Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature

C. Izzi, P. Accorsi, L. Giordano, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R

C. Izzi, F. Prefumo, A. Pilotta, 2013, American journal of medical genetics. Part A.

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

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

Prenatal ultrasound diagnosis of cavitation of ganglionic eminence

E. Sartori, C. Izzi, F. Prefumo, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

M. Digilio, C. Izzi, G. Merla, 2010, European Journal of Human Genetics.

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.

F. Scolari, C. Izzi, G. Milan, 2011, Kidney international.

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2

F. Scolari, C. Izzi, A. Renieri, 2011, Pediatric Nephrology.

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

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure.

C. Izzi, T. Sander, A. Barbon, 2002, American journal of medical genetics.

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

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

Fetal abdominal wall defects.

C. Izzi, F. Prefumo, 2014, Best practice & research. Clinical obstetrics & gynaecology.

Testicular involvement is a hallmark of Apo A-I Leu75Pro mutation amyloidosis.

C. Cappelli, F. Scolari, C. Izzi, 2020, The Journal of clinical endocrinology and metabolism.

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow‐up amniocentesis

C. Izzi, G. Simoni, B. Grimi, 2015, Prenatal diagnosis.

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

Craig S. Wong, H. Hakonarson, A. Latos-Bieleńska, 2018, Nature 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.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Craig S. Wong, E. Zackai, H. Hakonarson, 2017, The New England journal of medicine.

Genome-wide association study identifies susceptibility loci for IgA nephropathy

Loreto Gesualdo, Krzysztof Kiryluk, Murim Choi, 2011, Nature Genetics.

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.

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

L. Kiemeney, A. Köttgen, I. Ionita-Laza, 2020, Nature Communications.

Type I hyperprolinemia: genotype/phenotype correlations

D. Valle, D. Campion, A. Afenjar, 2010, Human mutation.

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

L. Kiemeney, A. Köttgen, I. Ionita-Laza, 2020, Nature Communications.

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene

C. Izzi, F. Lalatta, F. Faravelli, 2010, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.

C. Izzi, G. Meroni, M. Lees, 2013, European journal of medical genetics.

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.

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Mark T. Handley, I. Jackson, I. Glass, 2013, Human mutation.

Prenatal findings in oral‐facial‐digital syndrome type VI: Report of three cases and literature review

E. Sartori, E. Valente, C. Izzi, 2019, Prenatal diagnosis.

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

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

Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry

F. Scolari, C. Izzi, C. Mazza, 2021, JN. Journal of Nephrology (Milano. 1992).

Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype

F. Scolari, C. Izzi, C. Mazza, 2022, Kidney international reports.

Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis.

F. Scolari, C. Izzi, B. F. Viola, 2005, Journal of the American Society of Nephrology : JASN.

Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.

F. Scolari, C. Izzi, N. Dallera, 2015, Kidney International.

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

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

F. Scolari, C. Izzi, N. Dallera, 2016 .

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

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

Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy

A. Heils, C. Izzi, C. Becker, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations.

G. Tiscia, E. Grandone, C. Izzi, 2018, Blood transfusion = Trasfusione del sangue.

Brief Research Communication Candidate Gene Analysis of the Human Metabotropic Glutamate Receptor Type 4 (GRM4) in Patients With Juvenile Myoclonic Epilepsy

A. Heils, C. Izzi, C. Becker, 2003 .

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis

C. Izzi, F. Prefumo, U. Pazzaglia, 2017, La radiologia medica.

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

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

Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))

D. Goldstein, S. Mane, G. Ardissino, 2017 .

Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3

S. Bione, C. Ghigna, E. Valente, 2023, Clinical genetics.