Giovanni Neri

Rome, 00168, Italy

Last Updated: 09/26/2026

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Found 77 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

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

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Journal: American journal of medical genetics. Part A

Published: July 26, 2025

Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders.

Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders.

Journal: International journal of molecular sciences

Published: January 22, 2024

Simpson-Golabi-Behmel syndrome.

Simpson-Golabi-Behmel syndrome.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: January 04, 2024

Personal journeys to and in human genetics and dysmorphology.

Personal journeys to and in human genetics and dysmorphology.

Journal: American journal of medical genetics. Part A

Published: November 05, 2023

Molecular advances, clinical management, and treatment opportunities in RASopathies.

Molecular advances, clinical management, and treatment opportunities in RASopathies.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: December 21, 2022

Dermatological manifestations, management, and care in RASopathies.

Dermatological manifestations, management, and care in RASopathies.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: September 16, 2022

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.

Journal: Genes

Published: September 15, 2022

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

Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme.

Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: March 27, 2021

Showing 1-12 of 77

Last Updated: 09/26/2026