Maria P. Ciccone

Rome, Italy

Last Updated: 09/26/2026

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Found 8 publications

A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy.

A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy.

Journal: Clinical genetics

Published: October 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

Early Detection of the Pathogenetic Variants of Homologous Recombination Repair Genes in Prostate Cancer: Critical Analysis and Experimental Design.

Early Detection of the Pathogenetic Variants of Homologous Recombination Repair Genes in Prostate Cancer: Critical Analysis and Experimental Design.

Journal: Biology

Published: December 01, 2024

Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.

Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.

Journal: Journal of molecular and cellular cardiology

Published: June 19, 2024

An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster.

An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster.

Journal: Journal of cellular physiology

Published: March 11, 2024

Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes.

Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes.

Journal: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology

Published: December 31, 2023

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.

Journal: Genes

Published: November 08, 2022

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

Journal: European journal of human genetics : EJHG

Published: May 03, 2022

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Last Updated: 09/26/2026