| Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome E Goussetis, I Peristeri, V Kitra, J Traeger-Synodinos, M Theodosaki, ... Journal of Allergy and Clinical Immunology 126 (2), 392-394, 2010 | 86 | 2010 |
| Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA M Tsipi, M Poulou, I Fylaktou, K Kosma, E Tsoutsou, MR Pons, ... Journal of the Neurological Sciences 395, 95-105, 2018 | 41 | 2018 |
| Nucleotide Variations in the NPHS2 Gene in Greek Children with Steroid-Resistant Nephrotic Syndrome S Megremis, A Mitsioni, AG Mitsioni, I Fylaktou, S Kitsiou-Tzelli, ... Genetic testing and molecular biomarkers 13 (2), 249-256, 2009 | 29 | 2009 |
| Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel P Kountouris, C Stephanou, CW Lederer, J Traeger‐Synodinos, C Bento, ... Human Mutation 43 (8), 1089-1096, 2022 | 28 | 2022 |
| Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene M Poulou, I Fylaktou, M Fotoulaki, E Kanavakis, M Tzetis Journal of Cystic Fibrosis 11 (4), 344-348, 2012 | 23 | 2012 |
| Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms’ tumor 1 (WT1) gene S Megremis, A Mitsioni, I Fylaktou, SK Tzeli, F Komianou, CJ Stefanidis, ... European journal of pediatrics 170, 1529-1534, 2011 | 23 | 2011 |
| Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency C Merakou, I Fylaktou, A Sertedaki, M Dracopoulou, A Voutetakis, ... The Journal of Clinical Endocrinology & Metabolism 106 (1), e182-e191, 2021 | 14 | 2021 |
| Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46, XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+ 4C> T mutation S Kitsiou-Tzeli, M Deligiorgi, S Malaktari-Skarantavou, C Vlachopoulos, ... Hormones 11, 361-367, 2012 | 12 | 2012 |
| Variable and often severe phenotypic expression in patients with the α-thalassemic variant Hb Agrinio [α29 (B10) Leu→ Pro (α2)] J Traeger-Synodinos, V Douna, I Papassotiriou, A Stamoulakatou, ... Hemoglobin 34 (5), 430-438, 2010 | 11 | 2010 |
| Whole exome sequencing points towards a multi-gene synergistic action in the pathogenesis of congenital combined pituitary hormone deficiency A Sertedaki, EB Tatsi, IA Vasilakis, I Fylaktou, E Nikaina, N Iacovidou, ... Cells 11 (13), 2088, 2022 | 7 | 2022 |
| Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype I Fylaktou, S Megremis, A Mitsioni, S Kitsiou-Tzeli, K Kosma, M Bitsori, ... Journal of genetics 92, 577-581, 2013 | 7 | 2013 |
| Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies S Tamana, M Xenophontos, A Minaidou, C Stephanou, CL Harteveld, ... Elife 11, e79713, 2022 | 6 | 2022 |
| BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients A Delaveri, A Rapti, M Poulou, E Fylaktou, M Tsipi, C Roussos, ... Meta Gene 2, 619-630, 2014 | 5 | 2014 |
| Are ALOX5AP gene SNPs a risk or protective factor for stroke? A Papapostolou, K Spengos, I Fylaktou, M Poulou, I Gountas, ... Gene 548 (1), 56-60, 2014 | 5 | 2014 |
| Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants I Fylaktou, P Smyrnaki, A Sertedaki, M Dracopoulou, ... Hormones, 1-7, 2022 | 3 | 2022 |
| Genotyping Efficiency of 2 Primer Sets and an Unlabeled Oligonucleotide Probe for the p.Phe508del in Exon 10 of the CFTR Gene as Determined with High … M Poulou, A Destouni, I Fylaktou, E Kanavakis, M Tzetis Clinical chemistry 58 (10), 1490-1492, 2012 | 2 | 2012 |
| Congenital Adrenal Hyperplasia caused by homozygous pathogenic variant in the HSD3B2 gene E Fylaktou, A Christoforidis, V Moutsanas, A Sertedaki, ... ESPE Abstracts 2021, 2021 | 1* | 2021 |
| Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies NM Marinakis, FN Tilemis, D Veltra, M Svingou, C Sofocleous, K Kekou, ... European Journal of Human Genetics, 1-7, 2024 | | 2024 |
| Genetics of 21-OH Deficiency and Genotype–Phenotype Correlation: Experience of the Hellenic National Referral Center I Fylaktou, A Mertzanian, I Farakla, A Gryparis, IA Vasilakis, M Binou, ... Current Issues in Molecular Biology 46 (10), 10696-10713, 2024 | | 2024 |
| Monogenic Diabetes gene variants in 323 Greek MODY patients: Targeted NGS increases diagnostic accuracy and allows identification of rare MODY subtypes A Mertzanian, A Sertedaki, I Fylaktou, M Binou, M Dolianiti, N Nikolaides, ... HORMONE RESEARCH IN PAEDIATRICS 96, 202-202, 2023 | | 2023 |
