Rosanna Bagnulo

Bari, Italy

Last Updated: 09/26/2026

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Found 31 publications

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site Variant.

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site Variant.

Journal: Human mutation
Published: May 13, 2026

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Journal: Journal of medical genetics
Published: September 03, 2024

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

Journal: International journal of molecular sciences
Published: August 20, 2024

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience.

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience.

Journal: Biomedicines
Published: May 09, 2024

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

Journal: The Journal of pediatrics
Published: April 14, 2024

Corrigendum to 'Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes' [Gene Dis (10) (2023), 1187-1189].

Corrigendum to 'Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes' [Gene Dis (10) (2023), 1187-1189].

Journal: Genes & diseases
Published: September 11, 2023

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

Journal: Genes
Published: June 23, 2023

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

Journal: Genes, chromosomes & cancer
Published: April 22, 2023

Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.

Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.

Journal: European journal of internal medicine
Published: March 27, 2023

Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97.

Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97.

Journal: International journal of molecular sciences
Published: February 23, 2023

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

Journal: European journal of human genetics : EJHG
Published: January 30, 2023

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.

Journal: Genes
Published: November 30, 2022
Showing 1-12 of 31

Last Updated: 09/26/2026