Mariateresa Di Stazio

65/1 Via Dell'Istria
Trieste, 34137, Italy

Last Updated: 09/26/2026

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Found 16 publications

Deep Proteomics Analysis Unravels the Molecular Signatures of Tonsillar B Cells in PFAPA and OSAS in the Pediatric Population.

Deep Proteomics Analysis Unravels the Molecular Signatures of Tonsillar B Cells in PFAPA and OSAS in the Pediatric Population.

Journal: International journal of molecular sciences

Published: June 17, 2025

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

Journal: Italian journal of dermatology and venereology

Published: March 20, 2023

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.

Journal: Genes

Published: December 20, 2022

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

Journal: Genes

Published: September 14, 2022

Identification of a New Mutation in RSK2, the Gene for Coffin-Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.

Identification of a New Mutation in RSK2, the Gene for Coffin-Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.

Journal: Brain sciences

Published: July 28, 2021

Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique.

Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique.

Journal: PloS one

Published: September 30, 2020

New age-related hearing loss candidate genes in humans: an ongoing challenge.

New age-related hearing loss candidate genes in humans: an ongoing challenge.

Journal: Gene

Published: December 20, 2019

Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss.

Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss.

Journal: Frontiers in genetics

Published: August 21, 2018

TBL1Y: a new gene involved in syndromic hearing loss.

TBL1Y: a new gene involved in syndromic hearing loss.

Journal: European journal of human genetics : EJHG

Published: April 05, 2018

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.

Journal: European journal of human genetics : EJHG

Published: November 22, 2017

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.

Journal: Investigacion clinica

Published: March 01, 2017

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.

Journal: Human molecular genetics

Published: March 16, 2015

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Last Updated: 09/26/2026