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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
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases
Author / Creator:Aristidou, Constantia ; Theodosiou, Athina ; Bak, Mads ; Mehrjouy, Mana M. ; Constantinou, Efthymia ; Alexandrou, Angelos ; Papaevripidou, Ioannis ; Christophidou-Anastasiadou, Violetta ; Skordis, Nicos ; Kitsiou-Tzeli, Sophia ; Tommerup, Niels ; Sismani, Carolina
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-10, Vol.13 (10), p.e0205298-e0205298
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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
Okamoto syndrome in a girl of Caucasian origin
Author / Creator:Markouri, Margharita ; Karpathios, Themistokles ; Dinopoulos, Argirios ; Attilakos, Achilleas ; Fretzayas, Andrew ; Bakoula, Chryssa ; Kitsiou‐Tzeli, Sophia
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Developmental medicine and child neurology, 2008-12, Vol.50 (12), p.950-952
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ArticlesPeer ReviewedFull Text
Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly
Author / Creator:Tsoutsou, Eirini ; Tzetis, Maria ; Giannikou, Krinio ; Braoudaki, Maria ; Mitrakos, Anastasis ; Amenta, Stella ; Selenti, Nikoletta ; Kanavakis, Emmanouil ; Zafeiriou, Dimitrios ; Kitsiou-Tzeli, Sophia ; Fryssira, Helena
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2017-08, Vol.82 (2), p.253-260
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ArticlesPeer ReviewedFull Text
Tumor development in three patients with Noonan syndrome
Author / Creator:Fryssira, Helen ; Leventopoulos, George ; Psoni, Stavroula ; Kitsiou-Tzeli, Sophia ; Stavrianeas, Nikolaos ; Kanavakis, Emmanuel
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2008-09, Vol.167 (9), p.1025-1031
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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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
A Substitution Involving the NLGN4 Gene Associated with Autistic Behavior in the Greek Population
Author / Creator:Pampanos, Andreas ; Volaki, Konstantina ; Kanavakis, Emmanuel ; Papandreou, Ourania ; Youroukos, Sotiris ; Thomaidis, Loretta ; Karkelis, Savvas ; Tzetis, Maria ; Kitsiou-Tzeli, Sophia
Publisher:United States: Mary Ann Liebert, Inc
Journal title:Genetic testing and molecular biomarkers, 2009-10, Vol.13 (5), p.611-615
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ArticlesPeer ReviewedFull Text
Three Novel Mutations in Greek Sotos Patients with Rare Clinical Manifestations
Author / Creator:Leventopoulos, George ; Kitsiou-Tzeli, Sophia ; Psoni, Stavroula ; Mavrou, Ariadni ; Kanavakis, Emmanuel ; Willems, Patrick ; Fryssira, Helen
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2009-01, Vol.71 (1), p.45-51
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ArticlesPeer ReviewedFull Text
Molecular analysis of patients with autistic behaviour
Author / Creator:Pampanos, Andreas ; Volaki, Konstantina ; Thomaidou, Loretta ; Giouroukos, Sotiris ; Papadaki-Papandreou, Ourania ; Kitsiou-Tzeli, Sophia ; Kanavakis, Emmanouel
Publisher:BioMed Central Ltd
Journal title:Annals of general psychiatry, 2008-04, Vol.7 (S1), p.S133-S133, Article S133
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ArticlesPeer ReviewedFull Text
Does the Rare A172G Mutation of PTPN11 Gene Convey a Mild Noonan Syndrome Phenotype?
Author / Creator:Kitsiou-Tzeli, Sophia ; Papadopoulou, Anna ; Kanaka-Gantenbein, Christina ; Fretzayas, Andreas ; Daskalopoulos, Dimitris ; Kanavakis, Emmanuel ; Nicolaidou, Polyxeni
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2006-01, Vol.66 (3), p.124-131
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ArticlesPeer ReviewedFull Text
Greece: The Hellenic Association of Medical Geneticists
Author / Creator:Tsenghi, Christine ; Tzeli-Kitsiou, Sophia
Publisher:United States: Elsevier Inc
Journal title:Genetics in medicine, 2001-05, Vol.3 (3), p.221-221
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ArticlesFull Text
Not by systems alone: replicability assessment of disease expression signals
Author / Creator:Ballouz, Sara ; Doerfel, Max ; Crow, Megan ; Crain, Jonathan ; Faivre, Laurence ; Keegan, Catherine E ; Kitsiou-Tzeli, Sophia ; Tzetis, Maria ; Lyon, Gholson J ; Gillis, Jesse
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-12
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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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Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

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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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Okamoto syndrome in a girl of Caucasian origin

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Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly

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Tumor development in three patients with Noonan syndrome

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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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A Substitution Involving the NLGN4 Gene Associated with Autistic Behavior in the Greek Population

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Three Novel Mutations in Greek Sotos Patients with Rare Clinical Manifestations

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Molecular analysis of patients with autistic behaviour

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Does the Rare A172G Mutation of PTPN11 Gene Convey a Mild Noonan Syndrome Phenotype?

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Greece: The Hellenic Association of Medical Geneticists

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Not by systems alone: replicability assessment of disease expression signals

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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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