Concetta S. Perrotta

Gela, 93012, Italy

Last Updated: 09/26/2026

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Found 8 publications

Dysregulation of miRNAs in Sicilian Patients with Huntington's Disease.

Dysregulation of miRNAs in Sicilian Patients with Huntington's Disease.

Journal: Diagnostics (Basel, Switzerland)
Published: August 21, 2025

Oxford Hip and Shoulder Scores as Potential Tools for the Early Detection of Avascular Necrosis in Apparently Unaffected Sites in Sickle Cell Disease: Results from a Prospective Cohort Study.

Oxford Hip and Shoulder Scores as Potential Tools for the Early Detection of Avascular Necrosis in Apparently Unaffected Sites in Sickle Cell Disease: Results from a Prospective Cohort Study.

Journal: Journal of clinical medicine
Published: July 03, 2025

Transcriptome Study in Sicilian Patients with Huntington's Disease.

Transcriptome Study in Sicilian Patients with Huntington's Disease.

Journal: Diagnostics (Basel, Switzerland)
Published: December 18, 2024

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.

Journal: Genes
Published: August 04, 2023

NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).

NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).

Journal: Molecular biology reports
Published: May 16, 2023

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

Journal: Molecular syndromology
Published: October 02, 2013

Growth hormone, gender and face shape in Prader-Willi syndrome.

Growth hormone, gender and face shape in Prader-Willi syndrome.

Journal: American journal of medical genetics. Part A
Published: January 29, 2013

Craniofacial characteristics of fragile X syndrome in mouse and man.

Craniofacial characteristics of fragile X syndrome in mouse and man.

Journal: European journal of human genetics : EJHG
Published: July 20, 2012
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Last Updated: 09/26/2026