Gianfranco Savoldi

Brescia, Italy

Last Updated: 09/26/2026

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Found 17 publications

Sodium-Glucose Cotransporter-2-inhibitors in Adult Patients With Alport Syndrome.

Sodium-Glucose Cotransporter-2-inhibitors in Adult Patients With Alport Syndrome.

Journal: Kidney international reports

Published: December 11, 2025

Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype.

Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype.

Journal: Clinical kidney journal

Published: November 08, 2023

Clinical Significance of the Cystic Phenotype in Alport Syndrome.

Clinical Significance of the Cystic Phenotype in Alport Syndrome.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: September 21, 2023

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

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

Journal: Journal of the American Society of Nephrology : JASN

Published: September 24, 2022

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

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

Journal: Kidney international reports

Published: December 20, 2021

When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis.

When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis.

Journal: Pediatric hematology and oncology

Published: March 17, 2021

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

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

Journal: Kidney international reports

Published: June 27, 2020

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

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

Journal: Journal of nephrology

Published: June 21, 2020

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

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

Journal: Prenatal diagnosis

Published: March 22, 2019

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

Journal: Medicina (Kaunas, Lithuania)

Published: February 25, 2019

Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy?

Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy?

Journal: Pediatric pulmonology

Published: December 27, 2018

Molecular diagnosis of ADPKD

Molecular diagnosis of ADPKD

Journal: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

Published: November 01, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026