Roberta Pietrobono

Rome, 00168, Italy

Last Updated: 09/26/2026

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Found 12 publications

Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature.

Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature.

Journal: European journal of medical genetics

Published: April 01, 2026

NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders.

NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders.

Journal: Genes

Published: February 14, 2026

FMR1 RNA interaction with DNMT1 blocks DNA methylation at the FMR1 locus.

FMR1 RNA interaction with DNMT1 blocks DNA methylation at the FMR1 locus.

Journal: NAR molecular medicine

Published: September 09, 2025

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.

Journal: Genes

Published: May 15, 2022

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Journal: Genes

Published: October 20, 2021

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.

Journal: Genes

Published: January 17, 2020

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.

Journal: European journal of human genetics : EJHG

Published: July 18, 2019

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.

Journal: European journal of human genetics : EJHG

Published: October 16, 2018

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

Journal: American journal of medical genetics. Part A

Published: July 22, 2016

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

Journal: Journal of neurology

Published: September 24, 2012

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

Journal: European journal of human genetics : EJHG

Published: August 09, 2012

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

Journal: American journal of medical genetics. Part A

Published: January 28, 2012

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Last Updated: 09/26/2026