Carlotta P. Cristalli

Bologna, 40138, Italy

Last Updated: 09/26/2026

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Found 15 publications

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

Journal: Genes

Published: May 28, 2026

Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.

Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.

Journal: American journal of medical genetics. Part A

Published: November 07, 2025

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Journal: Genes

Published: March 28, 2025

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

Journal: European journal of human genetics : EJHG

Published: December 31, 2024

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

Journal: Clinical genetics

Published: November 11, 2024

A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy.

A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy.

Journal: International journal of cardiology

Published: September 26, 2024

Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk Prognostication.

Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk Prognostication.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: June 18, 2024

The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease.

The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease.

Journal: Journal of nephrology

Published: April 15, 2024

DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.

DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.

Journal: Genes

Published: November 21, 2023

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.

Journal: Genes

Published: April 29, 2023

Identification of a serum and urine extracellular vesicle signature predicting renal outcome after kidney transplant.

Identification of a serum and urine extracellular vesicle signature predicting renal outcome after kidney transplant.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: March 16, 2022

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Journal: Frontiers in genetics

Published: December 04, 2019

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Last Updated: 09/26/2026