SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations
Veltra, Danai, Theodorou, Virginia, Katsalouli, Marina, Vorgia, Pelagia, Niotakis, Georgios, Tsaprouni, Triantafyllia, Pons, Roser, Kosma, Konstantina, Kampouraki, Afroditi, Tsoutsou, Irene, Makrythanasis, Periklis, Kekou, Kyriaki, Traeger-Synodinos, Joanne, Sofocleous, Christalena
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
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Orofacial Manifestations Associated with Muscular Dystrophies: A Review
Papaefthymiou, Petros, Kekou, Kyriaki, Özdemir, Fulya
Published in Turkish journal of orthodontics (01.03.2022)
Published in Turkish journal of orthodontics (01.03.2022)
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A Greek National Cross-Sectional Study on Myotonic Dystrophies
Papadimas, Georgios K, Papadopoulos, Constantinos, Kekou, Kyriaki, Kartanou, Chrisoula, Kladi, Athina, Nitsa, Evangelia, Sofocleous, Christalena, Tsanou, Evangelia, Sarmas, Ioannis, Kaninia, Stefania, Chroni, Elisabeth, Tsivgoulis, Georgios, Kimiskidis, Vasilios, Arnaoutoglou, Marianthi, Stefanis, Leonidas, Panas, Marios, Koutsis, Georgios, Karadima, Georgia, Traeger-Synodinos, Joanne
Published in International journal of molecular sciences (07.12.2022)
Published in International journal of molecular sciences (07.12.2022)
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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
Tilemis, Faidon-Nikolaos, Marinakis, Nikolaos M, Veltra, Danai, Svingou, Maria, Kekou, Kyriaki, Mitrakos, Anastasios, Tzetis, Maria, Kosma, Konstantina, Makrythanasis, Periklis, Traeger-Synodinos, Joanne, Sofocleous, Christalena
Published in Genes (01.07.2023)
Published in Genes (01.07.2023)
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Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature
Veltra, Danai, Marinakis, Nikolaos M, Kotsios, Ioannis, Delaporta, Polyxeni, Kekou, Kyriaki, Kosma, Konstantina, Traeger-Synodinos, Joanne, Sofocleous, Christalena
Published in Children (Basel) (01.06.2024)
Published in Children (Basel) (01.06.2024)
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Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients
Konstantonis, Dimitrios, Kekou, Kyriaki, Papaefthymiou, Petros, Vastardis, Heleni, Konstantoni, Nikoleta, Athanasiou, Maria, Svingou, Maria, Margariti, Anastasia, Panousopoulou, Angeliki
Published in Children (Basel) (11.01.2022)
Published in Children (Basel) (11.01.2022)
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Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years
Kekou, Kyriaki, Svingou, Maria, Sofocleous, Christalena, Mourtzi, Niki, Nitsa, Evangelia, Konstantinidis, George, Youroukos, Sotiris, Skiadas, Konstantinos, Katsalouli, Marina, Pons, Roser, Papavasiliou, Antigoni, Kotsalis, Charalabos, Pavlou, Evangelos, Evangeliou, Athanasios, Katsarou, Efstathia, Voudris, Konstantinos, Dinopoulos, Argirios, Vorgia, Pelagia, Niotakis, George, Diamantopoulos, Nikolaos, Nakou, Iliada, Koute, Vasiliki, Vartzelis, George, Papadimas, George-Konstantinos, Papadopoulos, Constantinos, Tsivgoulis, Georgios, Traeger-Synodinos, Joanne
Published in Journal of neuromuscular diseases (01.01.2020)
Published in Journal of neuromuscular diseases (01.01.2020)
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Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1 :c. 501C > G variant as a genetic modifier
Marinakis, Nikolaos M., Svingou, Maria, Papadimas, Giorgos‐Konstantinos, Papadopoulos, Constantinos, Chroni, Elisabeth, Pons, Roser, Pavlou, Evangelos, Sarmas, Ioannis, Kosma, Konstantina, Apostolou, Paraskevi, Sofocleous, Christalena, Traeger‐Synodinos, Joanne, Kekou, Kyriaki
Published in Muscle & nerve (01.08.2024)
Published in Muscle & nerve (01.08.2024)
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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
Marinakis, Nikolaos M., Svingou, Maria, Veltra, Danai, Kekou, Kyriaki, Sofocleous, Christalena, Tilemis, Faidon‐Nikolaos, Kosma, Konstantina, Tsoutsou, Eirini, Fryssira, Helen, Traeger‐Synodinos, Joanne
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Journal Article
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier
Marinakis, Nikolaos M., Svingou, Maria, Papadimas, Giorgos‐Konstantinos, Papadopoulos, Constantinos, Chroni, Elisabeth, Pons, Roser, Pavlou, Evangelos, Sarmas, Ioannis, Kosma, Konstantina, Apostolou, Paraskevi, Sofocleous, Christalena, Traeger‐Synodinos, Joanne, Kekou, Kyriaki
Published in Muscle & nerve (01.08.2024)
Published in Muscle & nerve (01.08.2024)
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Homozygosity of the Z‐2 polymorphic variant in the aldose reductase gene promoter confers increased risk for neuropathy in children and adolescents with Type 1 diabetes
Kallinikou, Dimitra, Tsentidis, Charalampos, Kekou, Kyriaki, Katsalouli, Marina, Louraki, Maria, Kanaka‐Gantenbein, Christina, Kanavakis, Emmanouil, Karavanaki, Kyriaki
Published in Pediatric diabetes (01.02.2022)
Published in Pediatric diabetes (01.02.2022)
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Social/ economic burden and health-related quality of life in patients with Spinal Muscular Atrophy (SMA) in Greece
Kontogiannis, Vasileios, Loupas, Marios Athanasios, Adamopoulou, Mary, Athanasiou, Dimitris, Moraiti, Georgia, Traeger-Synodinos, Jan, Sofocleous, Chrystallena, Kekou, Kyriaki, Kalogeropoulou, Maria
Published in Journal of health policy & outcomes research (01.11.2023)
Published in Journal of health policy & outcomes research (01.11.2023)
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Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype
Pons, Roser, Kekou, Kyriaki, Gkika, Artemis, Papadimas, George, Vogiatzakis, Nikolaos, Svingou, Maria, Papadopooulos, Constantinos, Nikas, Ioanis, Dinopoulos, Argirios, Youroukos, Sotiris, Kanavakis, Emmanouel
Published in Muscle & nerve (01.01.2017)
Published in Muscle & nerve (01.01.2017)
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Caveolinopathies in Greece
Papadopoulos, Constantinos, Papadimas, George K, Kekou, Kyriaki, Spengos, Konstantinos, Svigou, Maria, Kitsiou-Tzeli, Sofia, Manta, Panagiota
Published in The Neurologist (Baltimore, Md.) (01.07.2015)
Published in The Neurologist (Baltimore, Md.) (01.07.2015)
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A dynamic trinucleotide repeat (TNR) expansion in the DMD gene
Kekou, Kyriaki, Sofocleous, Christalena, Papadimas, George, Petichakis, Dimitris, Svingou, Maria, Pons, Roser-Maria, Vorgia, Pelagia, Gika, Artemis, Kitsiou-Tzeli, Sophia, Kanavakis, Emmanuel
Published in Molecular and cellular probes (01.08.2016)
Published in Molecular and cellular probes (01.08.2016)
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A simplified approach for FSHD molecular testing
Papanikos, Frantzeskos, Skoulatou, Christina, Sakellariou, Paraskevi, Kekou, Kyriaki, Christopoulos, Theodore K., Kanavakis, Emmanuel, Traeger-Synodinos, Jan, Ioannou, Penelope C.
Published in Clinica chimica acta (15.02.2014)
Published in Clinica chimica acta (15.02.2014)
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Myotonic dystrophy type 2 presenting as inflammatory myopathy
Papadopoulos, Constantinos, Panagopoulos, Grigoris, Kekou, Kyriaki, Fardis, Vassileios, Kitsiou-Tzeli, Sofia, Papadimas, George
Published in Neurology India (01.09.2016)
Published in Neurology India (01.09.2016)
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SURVEYOR on the Spot: Strengths and Weaknesses in Molecular Diagnostics
Vogiatzakis, Nikolaos, Kekou, Kyriaki, Sophocleous, Christalena, Kitsiou, Sophia, Mavrou, Ariadni, Bakoula, Chrisa, Kanavakis, Emmanouel, Deltas, Constantinos, Voskarides, Konstantinos
Published in The Journal of molecular diagnostics : JMD (01.03.2010)
Published in The Journal of molecular diagnostics : JMD (01.03.2010)
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