Chiara Dordoni

Brescia, Italy

Last Updated: 09/26/2026

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Found 36 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

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

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

Journal: Clinical genetics

Published: December 19, 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

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

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Journal: Balkan journal of medical genetics : BJMG

Published: November 15, 2018

Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.

Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: May 25, 2018

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Journal: Orphanet journal of rare diseases

Published: June 19, 2017

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Journal: European journal of human genetics : EJHG

Published: June 07, 2017

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Last Updated: 09/26/2026