Roberta Petillo

Naples, 80131, Italy

Last Updated: 09/26/2026

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Found 28 publications

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls.

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls.

Journal: Genes

Published: May 18, 2026

Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach.

Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach.

Journal: Clinical genetics

Published: November 17, 2024

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Journal: Clinical epigenetics

Published: June 18, 2024

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Journal: Biomedicines

Published: April 03, 2024

Interatrial block as a first clinical presentation of atrial cardiomyopathy related to a novel LMNA variant: a case report.

Interatrial block as a first clinical presentation of atrial cardiomyopathy related to a novel LMNA variant: a case report.

Journal: European heart journal. Case reports

Published: May 15, 2023

Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1.

Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: September 05, 2022

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.

Journal: Pediatric reports

Published: December 30, 2021

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution.

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution.

Journal: Genes

Published: December 30, 2021

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.

Journal: Frontiers in neurology

Published: September 25, 2019

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: July 17, 2019

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.

Journal: Frontiers in neurology

Published: June 18, 2018

Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report.

Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: May 18, 2018

Showing 1-12 of 28

Last Updated: 09/26/2026