Maria Grazia Pomponi

5PUBLICATIONS
37CO-AUTHORS
Paediatrics not elsewhere classifiedEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesFlight dynamicsCancer diagnosis
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (5)

|Aug 27, 2026
A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL.

|Apr 26, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Federica Francesca L'Erario, Annalisa Gazzellone, Ilaria Contaldo

|Feb 26, 2025
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.

Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone

|Jul 09, 2020
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.

Massimo Santoro, Alessia Perna, Piergiorgio La Rosa

|Jul 12, 2019
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Alessandro Vaisfeld, Martina Calicchia, Maria Grazia Pomponi

Pageof 1

Frequent Collaborators

2 joint publications

Marcella Zollino

2 joint publications

Pino D'Ambrosio

2 joint publications

Pietro Chiurazzi

1 joint publications

Antonio Liguori