Irene Fylaktou

Athens, ESYE31 11527, Greece

Last Updated: 09/26/2026

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Found 13 publications

A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) in CYP21A2 Diagnostic Genotyping.

A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) in CYP21A2 Diagnostic Genotyping.

Journal: Current issues in molecular biology

Published: June 29, 2026

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype.

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype.

Journal: Case reports in endocrinology

Published: December 12, 2024

Genetics of 21-OH Deficiency and Genotype-Phenotype Correlation: Experience of the Hellenic National Referral Center.

Genetics of 21-OH Deficiency and Genotype-Phenotype Correlation: Experience of the Hellenic National Referral Center.

Journal: Current issues in molecular biology

Published: August 20, 2024

Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.

Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.

Journal: European journal of human genetics : EJHG

Published: April 17, 2024

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Journal: eLife

Published: April 23, 2022

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency.

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency.

Journal: Cells

Published: March 30, 2022

Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.

Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.

Journal: Hormones (Athens, Greece)

Published: April 19, 2021

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 20, 2020

Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.

Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.

Journal: Journal of the neurological sciences

Published: January 29, 2018

Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.

Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.

Journal: Hemoglobin

Published: December 06, 2014

Are ALOX5AP gene SNPs a risk or protective factor for stroke?

Are ALOX5AP gene SNPs a risk or protective factor for stroke?

Journal: Gene

Published: April 15, 2014

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.

Journal: Journal of genetics

Published: December 28, 2013

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Last Updated: 09/26/2026