Maria Pia Ciccone

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

Maria Pia Ciccone, Filippo Maria Panfili, Félix Bacigalupo, Francesca Brusco et autres

We chronicle the diagnostic journey of a young patient suffering from severe arrhythmias and left ventricular hypertrophy, for which, after about 15 years of inconclusive genetic testing, a definitive diagnosis was made possible by finding an undescribed homozygous variant in POPDC2, a …

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

Marco Fabiani, Caterina Micolonghi, Silvia Caroselli, Camilla Savio et autres

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

Irene Bottillo, Alessandro Sciarra, Giulio Bevilacqua, Alessandro Gentilucci et autres

It has been shown that the pathogenic variants (PVs) of the DNA Damage Response (DDR) genes, whether of a germinal or somatic nature, represent a predictive biomarker of high sensitivity to treatment with inhibitors of the enzyme poly-ADP-ribose polymerase (PARP) in patients …

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

Irene Bottillo, Maria Pia Ciccone, Monia Magliozzi, Kalliopi Pilichou et autres

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Early Detection of the Pathogenetic Variants of HRR Genes in Prostate Cancer: Critical Analysis and Experimental Design

Irene Bottillo, Alessandro Sciarra, Giulio Bevilacqua, Alessandro Gentilucci et autres

It has been shown that the pathogenic variants (PVs) of the DDR genes, whether of a germinal or somatic nature, represent a predictive biomarker of high sensitivity to treatment with inhibitors of the enzyme PARP, in patients with hormone-resistant metastatic prostate cancer …

Cover Image, Volume 239, Number 12, December 2024

Irene Bottillo, Andrea D’Alessandro, Maria Pia Ciccone, Gianluca Cestra et autres

Front Cover Caption: The cover image is based on the article An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster by Giovanni Cenci et al., https://doi.org/10.1002/jcp.31440.

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

Irene Bottillo, Carla Giordano, Maria Pia Ciccone, Maria Gemma Pignataro et autres

Dilated cardiomyopathy (DCM) is defined as left ventricular enlargement accompanied by systolic dysfunction not explained by abnormal loading conditions or coronary heart disease. The DCM clinical spectrum is broad, ranging from subclinical to severe presentation with progression to end stage heart failure. …

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

Irene Bottillo, Emanuele Savino, Silvia Majore, Claudia Mulargia et autres

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

Carla Lintas, Irene Bottillo, Roberto Sacco, Alessia Azzarà et autres

As a consequence of the implementation of NGS technologies, the diagnostic yield of neurodevelopmental disorders has dramatically increased during the past two decades. Among neurodevelopmental genes, transcription-related genes and chromatin remodeling genes are the most represented category of disease-causing genes. Indeed, the …

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