Publications by authors named "Maria Svingou"

Claim this Profile
C
Cardiomyopathy in an Adolescent with McLeod Syndrome: Searching Beyond the Routine Assessment.
Sophie I Mavrogeni, Kyriaki Kekou, George Markousis-Mavrogenis, Flora Bacopoulou, Maria Akrioti, Maria Svingou

Adv Exp Med Biol· January 2026

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Insights into the heterogeneity of oculopharyngeal muscular dystrophy.
Kyriaki Kekou, Constantinos Papadopoulos, Maria Svingou, Margarita Chrysanthou-Piterou, Evangelia Nitsa

Neurogenetics· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Nikolaos M Marinakis, Faidon-Nikolaos Tilemis, Danai Veltra, Maria Svingou, Christalena Sofocleous

Eur J Hum Genet· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
Nikolaos M Marinakis, Maria Svingou, Giorgos-Konstantinos Papadimas, Constantinos Papadopoulos, Elisabeth Chroni

Muscle Nerve· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
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

Expert Rev Mol Diagn· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
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

Genes (Basel)· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement.
Constantinos Papadopoulos, Kiriaki Kekou, Aris Anastasakis, Maria Svingou, Edoardo Malfatti

Muscle Nerve· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients.
Dimitrios Konstantonis, Kyriaki Kekou, Petros Papaefthymiou, Heleni Vastardis, Nikoleta Konstantoni, Maria Svingou

Children (Basel)· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Nikolaos M Marinakis, Maria Svingou, Danai Veltra, Kyriaki Kekou, Christalena Sofocleous

Am J Med Genet A· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.
Kyriaki Kekou, Maria Svingou, Christalena Sofocleous, Niki Mourtzi, Evangelia Nitsa

J Neuromuscul Dis· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.
Roser Pons, Kyriaki Kekou, Artemis Gkika, George Papadimas, Nikolaos Vogiatzakis, Maria Svingou

Muscle Nerve· January 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease.
Roser Pons, Kyriaki Kekou, Roubina Antonellou, Maria Svingou, Emmanouel Kanavakis

Mov Disord· November 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.
Kyriaki Kekou, Christalena Sofocleous, George Papadimas, Dimitris Petichakis, Maria Svingou

Mol Cell Probes· August 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis