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ArticlesPeer ReviewedFull Text
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients
Author / Creator:Papadopoulos, George ; Papadopoulou, Anna ; Kosma, Konstantina ; Papadimitriou, Anastasios ; Papaevangelou, Vassiliki ; Kanaka-Gantenbein, Christina ; Bountouvi, Evangelia ; Kitsiou-Tzeli, Sophia
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2022-10, Vol.181 (10), p.3691-3700
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ArticlesPeer ReviewedFull Text
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
Author / Creator:Veltra, Danai ; Marinakis, Nikolaos M. ; Kotsios, Ioannis ; Delaporta, Polyxeni ; Kekou, Kyriaki ; Kosma, Konstantina ; Traeger-Synodinos, Joanne ; Sofocleous, Christalena
Publisher:Switzerland: MDPI AG
Journal title:Children (Basel), 2024-06, Vol.11 (6), p.705
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ArticlesPeer ReviewedFull Text
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment
Author / Creator:Papadopoulou, Anna ; Issakidis, Michalis ; Gole, Evangelia ; Kosma, Konstantina ; Fryssira, Helen ; Fretzayas, Andreas ; Nicolaidou, Polyxeni ; Kitsiou-Tzeli, Sophia
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2012-01, Vol.171 (1), p.51-58
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ArticlesPeer ReviewedFull Text
Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?
Author / Creator:Mitrakos, Anastasios ; Kosma, Konstantina ; Makrythanasis, Periklis ; Tzetis, Maria
Publisher:Basel: MDPI AG
Journal title:Genes, 2023-07, Vol.14 (8), p.1519
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ArticlesPeer ReviewedFull Text
The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements
Author / Creator:Mitrakos, Anastasios K. ; Kosma, Konstantina ; Makrythanasis, Periklis ; Tzetis, Maria
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-08, Vol.15 (8), p.1053
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ArticlesPeer ReviewedFull Text
A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review
Author / Creator:Tzetis, Maria ; Mitrakos, Anastasios ; Papathanasiou, Ioanna ; Koute, Vasiliki ; Kosma, Konstantina ; Pons, Roser ; Michoula, Aspasia ; Grivea, Ioanna ; Tsezou, Aspasia
Journal title:Genes, 2025-04, Vol.16 (5), p.521
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ArticlesPeer ReviewedFull Text
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-06, Vol.25 (11), p.5644
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ArticlesPeer ReviewedFull Text
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-07, Vol.14 (7), p.1490
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ArticlesPeer ReviewedFull Text
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-08, Vol.15 (8), p.1016
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ArticlesPeer ReviewedFull Text
A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion,...
Author / Creator:Kolaitis, Gerasimos ; Bouwkamp, Christian G. ; Papakonstantinou, Alexia ; Otheiti, Ioanna ; Belivanaki, Maria ; Haritaki, Styliani ; Korpa, Terpsihori ; Albani, Zinovia ; Terzioglou, Elena ; Apostola, Polyxeni ; Skamnaki, Aggeliki ; Xaidara, Athena ; Kosma, Konstantina ; Kitsiou-Tzeli, Sophia ; Tzetis, Maria
Publisher:England: BioMed Central Ltd
Journal title:Child and adolescent psychiatry and mental health, 2016-09, Vol.10 (1), p.33, Article 33
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A boy with conduct disorder , borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion
Author / Creator:Kolaitis, Gerasimos ; Bouwkamp, Christian G ; Papakonstantinou, Alexia ; Otheiti, Ioanna ; Belivanaki, Maria ; Haritaki, Styliani ; Korpa, Terpsihori ; Albani, Zinovia ; Terzioglou, Elena ; Apostola, Polyxeni ; Skamnaki, Aggeliki ; Xaidara, Athena ; Kosma, Konstantina ; Kitsiou-Tzeli, Sophia ; Tzetis, Maria
Publisher:BioMed Central Ltd
Journal title:Child and adolescent psychiatry and mental health, 2016-09, Vol.10 (1)
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Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype
Author / Creator:FYLAKTOU, IRENE ; MEGREMIS, SPYRIDON ; MITSIONI, ANDROMACHI ; KITSIOU-TZELI, SOFIA ; KOSMA, KONSTANTINA ; BITSORI, MARIA ; STEFANIDIS, CONSTANTINOS J ; KANAVAKIS, EMMANUEL ; SYNODINOS, JOANNE TRAEGER
Publisher:India: Springer-Verlag
Journal title:Journal of genetics, 2013-12, Vol.92 (3), p.577-581
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ReportsFull Text
A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion,...
Author / Creator:Kolaitis, Gerasimos ; Bouwkamp, Christian G ; Papakonstantinou, Alexia ; Otheiti, Ioanna ; Belivanaki, Maria ; Haritaki, Styliani ; Korpa, Terpsihori ; Albani, Zinovia ; Terzioglou, Elena ; Apostola, Polyxeni ; Skamnaki, Aggeliki ; Xaidara, Athena ; Kosma, Konstantina ; Kitsiou-Tzeli, Sophia ; Tzetis, Maria
Journal title:Child and adolescent psychiatry and mental health, 2016, Vol.10, p.33-33
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Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients

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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

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Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment

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Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

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The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements

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A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review

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SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations

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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

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Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children

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A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion,...

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A boy with conduct disorder , borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion

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Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype

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A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion,...

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