Publications by authors named "Anastasios Mitrakos"

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"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".
Maria Spanou, Vasileios Skoutelis, Zacharias Dimitriadis, Eleftheria Kokkinou, Konstantina Kosma, Anastasios Mitrakos

Eur J Paediatr Neurol· November 2025

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A Novel Frameshift Variant and a Partial Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.
Maria Tzetis, Anastasios Mitrakos, Ioanna Papathanasiou, Vasiliki Koute, Konstantina Kosma

Genes (Basel)· April 2025

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Elexacaftor/Tezacaftor/Ivacaftor Effect on a Patient With Rare Compound Heterozygous CFTR Splice Variant Genotype C.[1393-1G>A;2988+1G>A].
Maria Moustaki, Maria Tzetis, Anastasios Mitrakos, Thomas Mprantzos, Ioanna Loukou

Pediatr Pulmonol· January 2025

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The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.
Anastasios K Mitrakos, Konstantina Kosma, Periklis Makrythanasis, Maria Tzetis

Genes (Basel)· August 2024

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Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast variant heterogeneity.
Kyriaki Kekou, Maria Svingou, Nikos Vogiatzakis, Evangelia Nitsa, Danai Veltra, Anastasios Mitrakos

Expert Rev Mol Diagn· October 2023

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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Faidon-Nikolaos Tilemis, Nikolaos M Marinakis, Danai Veltra, Maria Svingou, Kyriaki Kekou, Anastasios Mitrakos

Genes (Basel)· July 2023

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Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?
Anastasios Mitrakos, Konstantina Kosma, Periklis Makrythanasis, Maria Tzetis

Genes (Basel)· July 2023

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Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Danai Veltra, Faidon-Nikolaos Tilemis, Nikolaos M Marinakis, Maria Svingou, Anastasios Mitrakos

Expert Rev Mol Diagn· January 2023

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The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients.
Amelia Pantou, Anastasios Mitrakos, Georgia Kokkali, Konstantina Petroutsou, Georgia Tounta

J Assist Reprod Genet· June 2022

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239-kb Microdeletion Spanning in a Child with Developmental Delay: Further Delineation of the Phenotype.
Konstantina Kosma, Konstantinos Varvagiannis, Anastasios Mitrakos, Maria Tsipi, Joanne Traeger-Synodinos

Mol Syndromol· August 2021

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Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF.
Sophia Zachaki, Elisavet Kouvidi, Amelia Pantou, Haroula Tsarouha, Anastasios Mitrakos

In Vivo· February 2021

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Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous Deletion Detected by High-Resolution aCGH.
Anastasios Mitrakos, Leandros Lazaros, Amelia Pantou, Ariadni Mavrou, Emmanuel Kanavakis

Mol Syndromol· July 2020

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High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients.
Anastasios Mitrakos, Antonis Kattamis, Katerina Katsibardi, Stefanos Papadhimitriou, Sophia Kitsiou-Tzeli

Leuk Res· August 2019

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Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit.
Irene Sfougataki, Ioannis Grafakos, Ioanna Varela, Anastasios Mitrakos, Angeliki Karagiannidou

Blood Cells Mol Dis· May 2019

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A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.
Konstantina Kosma, Anastasios Mitrakos, Christalena Sofokleous, George Papadimas, Helena Fryssira

Neuropediatrics· February 2019

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Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.
Maria Tzetis, Anastasia Konstantinidou, Christalena Sofocleous, Konstantina Kosma, Anastasios Mitrakos

Birth Defects Res A Clin Mol Teratol· July 2016

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