P. Evangelidou

发表

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

C. Sismani, P. Patsalis, P. Evangelidou, 2013, BioMed research international.

Genomic Arrays in Prenatal Diagnosis

C. Sismani, P. Evangelidou, 2017 .

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

C. Sismani, G. Tanteles, P. Evangelidou, 2018, American journal of medical genetics. Part A.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

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

C. Sismani, G. Tanteles, P. Evangelidou, 2022, Genes.

Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature

C. Sismani, G. Tanteles, P. Evangelidou, 2015, American journal of medical genetics. Part A.

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

C. Sismani, P. Patsalis, I. Georgiou, 2010, Molecular Cytogenetics.

Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity

C. Sismani, P. Patsalis, P. Evangelidou, 2004, European Journal of Human Genetics.

A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

C. Sismani, A. Konstantinidou, P. Evangelidou, 2015, Case reports in genetics.

Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis.

C. Sismani, P. Patsalis, C. Bartsocas, 2007, European journal of medical genetics.

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

C. Sismani, G. Tanteles, P. Evangelidou, 2020, European journal of medical genetics.

De novo mosaic MECP2 mutation in a female with Rett syndrome

C. Sismani, G. Tanteles, P. Evangelidou, 2019, Clinical case reports.

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

C. Sismani, G. Tanteles, P. Evangelidou, 2023, Molecular Cytogenetics.

Hb A2 Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot–Lebanese descent

C. Sismani, G. Tanteles, P. Evangelidou, 2017, Hematology.

Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature

C. Sismani, G. Tanteles, P. Evangelidou, 2015, American journal of medical genetics. Part A.

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies

C. Sismani, P. Evangelidou, A. Alexandrou, 2024, Genes.

Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study.

C. Sismani, A. Jossif, P. Evangelidou, 2024, American journal of medical genetics. Part A.