Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Sophia Kitsiou-Tzeli"'
Autor:
Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0205298 (2018)
The majority of apparently balanced translocation (ABT) carriers are phenotypically normal. However, several mechanisms were proposed to underlie phenotypes in affected ABT cases. In the current study, whole-genome mate-pair sequencing (WG-MPS) follo
Externí odkaz:
https://doaj.org/article/1a753c40fb8c4700a3dc9f77e19dea29
Autor:
George Papadopoulos, Anna Papadopoulou, Konstantina Kosma, Anastasios Papadimitriou, Vassiliki Papaevangelou, Christina Kanaka-Gantenbein, Evangelia Bountouvi, Sophia Kitsiou-Tzeli
Publikováno v:
European journal of pediatrics. 181(10)
Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. It belongs to a wider group of pathologies, known as Rasopathies, due to the implication of genes encoding components of the Ras/MAPK signalli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586e46f7fd7d626a56fcbaf03cb30c32
https://pubmed.ncbi.nlm.nih.gov/35904599
https://pubmed.ncbi.nlm.nih.gov/35904599
Autor:
Anastasios Mitrakos, Maria Tzetis, Stefanos I. Papadhimitriou, Antonis Kattamis, Emmanuel Kanavakis, Sophia Kitsiou-Tzeli, Katerina Katsibardi
Publikováno v:
Leukemia research. 83
Acute Lymphoblastic Leukemia (ALL) is a malignancy of the immature lymphoid cells mainly associated with numerical and structural chromosomal aberrations. The current standard for profiling the diverse genetic background comprises a combination of co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a129459d1dcac6c26b1f6434f0391a52
https://pubmed.ncbi.nlm.nih.gov/31261022
https://pubmed.ncbi.nlm.nih.gov/31261022
Autor:
Marilena M. Bourdakou, Dimitrios Rigopoulos, Ch. Antoniou, George M. Spyrou, G. Tounta, E. Papadavid, Maria Braoudaki, Sophia Kitsiou-Tzeli, Alexandra Lykoudi, Emmanouil Athanasiadis, Aggeliki Kolialexi, A. Ekonomidi, V. Nikolaou
Publikováno v:
Tumor Biology. 37:14667-14675
Herein, miRNA candidates relevant to mycosis fungoides were investigated to provide data on the molecular mechanisms underlying the pathogenesis of the disease. The miRNA expression profile of skin biopsies from patients with tumor stage MF (tMF) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c03244fb3de52b4c4f9ef7b954e723
https://doi.org/10.1007/s13277-016-5325-2
https://doi.org/10.1007/s13277-016-5325-2
Autor:
Aspasia Destouni, Joanne Traeger-Synodinos, Georgia Kakourou, Sophia Kitsiou-Tzeli, Myrto Poulou, Christina Vrettou, Maria Tzetis
Publikováno v:
Journal of Cystic Fibrosis. 15:163-170
Background Institutions offering CF-PGD face the challenge of developing and optimizing single cell genotyping protocols that should cover for the extremely heterogeneous CF mutation spectrum. Here we report the development and successful clinical ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::165a49ffb7d541fb16485b8d6bb90832
https://doi.org/10.1016/j.jcf.2015.09.009
https://doi.org/10.1016/j.jcf.2015.09.009
Autor:
Sophia Kitsiou-Tzeli, Stavroula Psoni, Andreas Pampanos, Maria Tzetis, Anastasios Mitrakos, Vasilis Oikonomakis, Emmanouel Kanavakis, Christalena Sofocleous, Areti Syrmou, P Pervanidou, Helena Fryssira, Konstantina Kosma
Publikováno v:
Clinical Genetics. 89:708-718
Chromosomal microarray analysis (CMA) is currently considered a first-tier diagnostic assay for the investigation of autism spectrum disorders (ASD), developmental delay and intellectual disability of unknown etiology. High-resolution arrays were uti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54a961a4e16c7e9f42e0320ffb47bfcf
https://doi.org/10.1111/cge.12740
https://doi.org/10.1111/cge.12740
Autor:
G Sfakianos, Stavroula A. Papadodima, Maria Tzetis, Krinio Giannikou, Alexandra Lykoudi, Fotini Tzortzatou-Stathopoulou, Sophia Kitsiou-Tzeli, Kalliopi Stefanaki, Maria Braoudaki, George I. Lambrou, E. Kanavakis, A. Kolialexi
Publikováno v:
Tumor Biology. 37:9887-9897
In the current setting, we attempted to verify and validate miRNA candidates relevant to pediatric primary brain tumor progression and outcome, in order to provide data regarding the identification of novel prognostic biomarkers. Overall, 26 resected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e57c193f3051d779823fd33fcfa9f63
https://doi.org/10.1007/s13277-016-4903-7
https://doi.org/10.1007/s13277-016-4903-7
Autor:
Carolina Sismani, Efthymia Constantinou, Mads Bak, Violetta Christophidou-Anastasiadou, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Constantia Aristidou, Niels Tommerup, Nicos Skordis, Mana M. Mehrjouy, Sophia Kitsiou-Tzeli
Publikováno v:
PLOS ONE
PLoS ONE, Vol 13, Iss 10, p e0205298 (2018)
PLoS ONE
Aristidou, C, Theodosiou, A, Bak, M, Mehrjouy, M M, Constantinou, E, Alexandrou, A, Papaevripidou, I, Christophidou-Anastasiadou, V, Skordis, N, Kitsiou-Tzeli, S, Tommerup, N & Sismani, C 2018, ' Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases ', PLOS ONE, vol. 13, no. 10, e0205298 . https://doi.org/10.1371/journal.pone.0205298
PLoS ONE, Vol 13, Iss 10, p e0205298 (2018)
PLoS ONE
Aristidou, C, Theodosiou, A, Bak, M, Mehrjouy, M M, Constantinou, E, Alexandrou, A, Papaevripidou, I, Christophidou-Anastasiadou, V, Skordis, N, Kitsiou-Tzeli, S, Tommerup, N & Sismani, C 2018, ' Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases ', PLOS ONE, vol. 13, no. 10, e0205298 . https://doi.org/10.1371/journal.pone.0205298
The majority of apparently balanced translocation (ABT) carriers are phenotypically normal. However, several mechanisms were proposed to underlie phenotypes in affected ABT cases. In the current study, whole-genome mate-pair sequencing (WG-MPS) follo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46e650284c307d63a04671a95a3df584
Autor:
Kyriaki Kekou, Sophia Kitsiou-Tzeli, Costas G. Papadopoulos, Sophia Xirou, G.K. Papadimas, Evangelia Kararizou
Publikováno v:
Eye (London, England). 32(3)
PurposeEarly onset posterior subscapular cataract (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56888590442962b7fce7f5eed0d6c2b1
https://pubmed.ncbi.nlm.nih.gov/29988074
https://pubmed.ncbi.nlm.nih.gov/29988074
Autor:
Jonathan Crain, Maria Tzetis, Megan Crow, Catherine E. Keegan, Laurence Faivre, Jesse Gillis, Sophia Kitsiou-Tzeli, Sara Ballouz, Max Doerfel, Gholson J. Lyon
SummaryIn characterizing a disease, it is common to search for dysfunctional genes by assaying the transcriptome. The resulting differentially expressed genes are typically assessed for shared features, such as functional annotation or co-expression.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2f9c4298ba48c548167e8d99c1bc163
