Violetta Anastasiadou-Christophidou

Nicosia, 2032, Cyprus

Last Updated: 09/26/2026

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Found 28 publications

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing.

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing.

Journal: Genes

Published: May 29, 2026

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Journal: Genes

Published: September 05, 2025

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.

Journal: Genes

Published: October 27, 2022

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.

Journal: Orphanet journal of rare diseases

Published: November 15, 2021

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.

Journal: PloS one

Published: March 17, 2021

Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.

Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.

Journal: Frontiers in genetics

Published: October 13, 2020

An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

Journal: European journal of medical genetics

Published: July 10, 2020

Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

Journal: Human mutation

Published: June 26, 2019

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.

Journal: PloS one

Published: June 26, 2018

Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.

Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.

Journal: Journal of genetics

Published: June 23, 2018

De novo mosaic MECP2 mutation in a female with Rett syndrome.

De novo mosaic MECP2 mutation in a female with Rett syndrome.

Journal: Clinical case reports

Published: June 04, 2018

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.

Journal: Molecular medicine reports

Published: January 09, 2018

Showing 1-12 of 28

Last Updated: 09/26/2026