Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients
Papadopoulos, George, Papadopoulou, Anna, Kosma, Konstantina, Papadimitriou, Anastasios, Papaevangelou, Vassiliki, Kanaka-Gantenbein, Christina, Bountouvi, Evangelia, Kitsiou-Tzeli, Sophia
Published in European journal of pediatrics (01.10.2022)
Published in European journal of pediatrics (01.10.2022)
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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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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) (07.06.2024)
Published in Children (Basel) (07.06.2024)
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Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment
Papadopoulou, Anna, Issakidis, Michalis, Gole, Evangelia, Kosma, Konstantina, Fryssira, Helen, Fretzayas, Andreas, Nicolaidou, Polyxeni, Kitsiou-Tzeli, Sophia
Published in European journal of pediatrics (01.01.2012)
Published in European journal of pediatrics (01.01.2012)
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Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?
Mitrakos, Anastasios, Kosma, Konstantina, Makrythanasis, Periklis, Tzetis, Maria
Published in Genes (25.07.2023)
Published in Genes (25.07.2023)
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The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements
Mitrakos, Anastasios K, Kosma, Konstantina, Makrythanasis, Periklis, Tzetis, Maria
Published in Genes (10.08.2024)
Published in Genes (10.08.2024)
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Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA
Tsipi, Maria, Poulou, Myrto, Fylaktou, Irene, Kosma, Konstantina, Tsoutsou, Eirini, Pons, Maria-Roser, Kokkinou, Eleftheria, Kitsiou-Tzeli, Sofia, Fryssira, Helen, Tzetis, Maria
Published in Journal of the neurological sciences (15.12.2018)
Published in Journal of the neurological sciences (15.12.2018)
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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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Journal Article
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies
Marinakis, Nikolaos M., Tilemis, Faidon-Nikolaos, Veltra, Danai, Svingou, Maria, Sofocleous, Christalena, Kekou, Kyriaki, Kosma, Konstantina, Kampouraki, Afrodite, Kontse, Chrysi, Fylaktou, Irene, Sertedaki, Amalia, Kanaka-Gantenbein, Christina, Traeger-Synodinos, Joanne, Makrythanasis, Periklis
Published in European journal of human genetics : EJHG (02.11.2024)
Published in European journal of human genetics : EJHG (02.11.2024)
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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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NFB-17. "Optic Pathway findings in children with Neurofibromatosis type-1 (NF-1)
Roka, Kleoniki, Kokkinou, Eleftheria, Gavra, Maria, Tsina, Efthymia, Mparka, Konstantina, Zarafonitis, Georgios, Kosma, Konstantina, Makrythanasis, Periklis, Tzetis, Maria, Chasiotou, Maria, Kanaka-Gantenbein, Christina, Pons, Roser, Kattamis, Antonis
Published in Neuro-oncology (Charlottesville, Va.) (03.06.2022)
Published in Neuro-oncology (Charlottesville, Va.) (03.06.2022)
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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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A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype
Veltra, Danai, Kosma, Konstantina, Papavasiliou, Antigoni, Tilemis, Faidon‐Nikolaos, Traeger‐Synodinos, Joanne, Sofocleous, Christalena
Published in American journal of medical genetics. Part A (01.12.2022)
Published in American journal of medical genetics. Part A (01.12.2022)
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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 (21.07.2023)
Published in Genes (21.07.2023)
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A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array
Kosma, Konstantina, Mitrakos, Anastasios, Sofokleous, Christalena, Papadimas, George, Fryssira, Helena, Kitsiou-Tzeli, Sofia, Tzetis, Maria
Published in Neuropediatrics (01.02.2019)
Published in Neuropediatrics (01.02.2019)
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Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7
Tilemis, Faidon-Nikolaos, Marinakis, Nikolaos M., Kosma, Konstantina, Fostira, Florentia, Traeger-Synodinos, Joanne
Published in Molecular syndromology (01.06.2023)
Published in Molecular syndromology (01.06.2023)
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239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype
Kosma, Konstantina, Varvagiannis, Konstantinos, Mitrakos, Anastasios, Tsipi, Maria, Traeger-Synodinos, Joanne, Tzetis, Maria
Published in Molecular syndromology (01.08.2021)
Published in Molecular syndromology (01.08.2021)
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Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children
Christodoulaki, Vasileia, Kosma, Konstantina, Marinakis, Nikolaos M, Tilemis, Faidon-Nikolaos, Stergiou, Nikolaos, Kampouraki, Afroditi, Kapogiannis, Charalampos, Karava, Vasiliki, Mitsioni, Andromachi, Mila, Maria, Kanaka-Gantenbein, Christina, Makrythanasis, Periklis, Tzetis, Maria, Traeger-Synodinos, Joanne
Published in Genes (02.08.2024)
Published in Genes (02.08.2024)
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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
Veltra, Danai, Tilemis, Faidon-Nikolaos, Marinakis, Nikolaos M, Svingou, Maria, Mitrakos, Anastasios, Kosma, Konstantina, Tsoutsou, Irene, Makrythanasis, Periklis, Theodorou, Virginia, Katsalouli, Marina, Vorgia, Pelagia, Niotakis, Georgios, Vartzelis, Georgios, Dinopoulos, Argirios, Evangeliou, Athanasios, Mouskou, Stella, Korona, Anastasia, Mastroyianni, Sotiria, Papavasiliou, Antigone, Tzetis, Maria, Pons, Roser, Traeger-Synodinos, Joanne, Sofocleous, Christalena
Published in Expert review of molecular diagnostics (02.01.2023)
Published in Expert review of molecular diagnostics (02.01.2023)
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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Brunet, Theresa, Zott, Benedikt, Lieftüchter, Victoria, Lenz, Dominic, Schmidt, Axel, Peters, Philipp, Kopajtich, Robert, Zaddach, Malin, Zimmermann, Hanna, Hüning, Irina, Ballhausen, Diana, Staufner, Christian, Bianzano, Alyssa, Hughes, Joanne, Taylor, Robert W., McFarland, Robert, Devlin, Anita, Mihaljević, Mihaela, Barišić, Nina, Rohlfs, Meino, Wilfling, Sibylle, Sondheimer, Neal, Hewson, Stacy, Marinakis, Nikolaos M., Kosma, Konstantina, Traeger-Synodinos, Joanne, Elbracht, Miriam, Begemann, Matthias, Trepels-Kottek, Sonja, Hasan, Dimah, Scala, Marcello, Capra, Valeria, Zara, Federico, van der Ven, Amelie T., Driemeyer, Joenna, Apitz, Christian, Krämer, Johannes, Strong, Alanna, Hakonarson, Hakon, Watson, Deborah, Mayr, Johannes A., Prokisch, Holger, Meitinger, Thomas, Borggraefe, Ingo, Spiegler, Juliane, Baric, Ivo, Paolini, Marco, Gerstl, Lucia, Wagner, Matias
Published in Genetics in medicine (01.02.2024)
Published in Genetics in medicine (01.02.2024)
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