Mariateresa Di Stazio

Employment

• IRCCS Materno Infantile Burlo Garofolo

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (28)

• Peripheral Mononuclear Cells Metabolomics in Obstructive Sleep Apnea Syndrome (OSAS): An Exploratory Pilot Study of Immunometabolic Signatures
  International Journal of Molecular Sciences 2026 DOI: 10.3390/ijms27177658
  +Save
• Deep Proteomics Analysis Unravels the Molecular Signatures of Tonsillar B Cells in PFAPA and OSAS in the Pediatric Population
  International Journal of Molecular Sciences 2025 DOI: 10.3390/ijms26146621
  +Save
• Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers
  International Journal of Molecular Sciences 2024 DOI: 10.3390/ijms252211997
  +Save
• Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders
  Genes 2023 DOI: 10.3390/genes14020250
  +Save
• Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases
  Italian journal of dermatology and venereology 2023 DOI: 10.23736/S2784-8671.23.07540-0
  +Save
• What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
  Genes 2022 DOI: 10.3390/genes13111958
  +Save
• Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes
  Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso +4 more
  Brain Sciences 2021 DOI: 10.3390/brainsci11081105
  +Save
• Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique
  PLOS ONE 2021 DOI: 10.1371/journal.pone.0247603
  +Save
• New age-related hearing loss candidate genes in humans: an ongoing challenge
  Gene 2020 DOI: 10.1016/j.gene.2020.144561
  +Save
• TBL1Y: a new gene involved in syndromic hearing loss
  European Journal of Human Genetics 2019 DOI: 10.1038/s41431-018-0282-4
  +Save
• Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss
  Frontiers in Genetics 2019 DOI: 10.3389/fgene.2019.00142
  +Save
• Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
  European Journal of Human Genetics 2019 DOI: 10.1038/s41431-018-0229-9
  +Save
• A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype
  Investigacion Clinica 2017
  +Save
• A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family
  Journal of the European Academy of Dermatology and Venereology 2016 DOI: 10.1111/jdv.12747
  +Save
• PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss
  Scientific Reports 2015 DOI: 10.1038/srep18568
  +Save
• Genome-wide association analysis on normal hearing function identifiesPCDH20andSLC28A3as candidates for hearing function and loss
  Human Molecular Genetics 2015 DOI: 10.1093/hmg/ddv279
  +Save
• Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia
  Journal of the European Academy of Dermatology and Venereology 2015 DOI: 10.1111/jdv.12457
  +Save
• A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.
  Oral health and dental management 2014
  +Save
• Hypohydrotic ectodermal dysplasia: A clinical case report
  Journal of International Dental and Medical Research 2014
  +Save
• Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations
  Haematologica 2011 DOI: 10.3324/haematol.2010.032631
  +Save