Maria G. Tedesco

Perugia, 06129, Italy

Last Updated: 09/26/2026

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Found 8 publications

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

Journal: Human molecular genetics

Published: August 29, 2025

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Journal: Genes

Published: March 19, 2025

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly.

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly.

Journal: International journal of molecular sciences

Published: July 21, 2024

CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum.

CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum.

Journal: European journal of human genetics : EJHG

Published: November 26, 2023

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Journal: Genes

Published: August 09, 2021

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.

Journal: International journal of molecular sciences

Published: July 08, 2021

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Journal: American journal of medical genetics. Part A

Published: February 15, 2021

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Journal: American journal of medical genetics. Part A

Published: September 27, 2020

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Last Updated: 09/26/2026