Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications von Oikonomakis, V., Kosma, K., Mitrakos, A., Sofocleous, C., Pervanidou, P., Syrmou, A., Pampanos, A., Psoni, S., Fryssira, H., Kanavakis, E., Kitsiou-Tzeli, S., Tzetis, M.

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Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients von Papadopoulos, C, Kekou, K, Xirou, S, Kitsiou-Tzeli, S, Kararizou, E, Papadimas, G K

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Dysmorphology services: a snapshot of current practices and a vision for the future von Douzgou, S., Chervinsky, E., Gyftodimou, Y., Kitsiou-Tzeli, S., Shalev, S., Kanavakis, E., Donnai, D., Clayton-Smith, J.

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Identification of nucleated red blood cells in maternal circulation: A second step in screening for fetal aneuploidies and pregnancy complications von Mavrou, A., Kouvidi, E., Antsaklis, A., Souka, A., Kitsiou Tzeli, S., Kolialexi, A.

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miR-15a and miR-24-1 as putative prognostic microRNA signatures for pediatric pilocytic astrocytomas and ependymomas von Braoudaki, M., Lambrou, G. I., Giannikou, K., Papadodima, S. A., Lykoudi, A., Stefanaki, K., Sfakianos, G., Kolialexi, A., Tzortzatou-Stathopoulou, F., Tzetis, M., Kitsiou-Tzeli, S., Kanavakis, E.

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Aberrant microRNA expression in tumor mycosis fungoides von Papadavid, E., Braoudaki, M., Bourdakou, M., Lykoudi, A., Nikolaou, V., Tounta, G., Ekonomidi, A., Athanasiadis, E., Spyrou, G., Antoniou, C., Kitsiou-Tzeli, S., Rigopoulos, D., Kolialexi, A.

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Steroid hormones polymorphisms and cholelithiasis in Greek population von Kitsiou-Tzeli, S., Giannatou, E., Spanos, I., Nicolaidou, P., Fretzayas, A., Tzetis, M., Lazaris, D., Kanavakis, E., Tsezou, A.

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Detection of 22q11.2 Deletion Among 139 Patients with Di George/Velocardiofacial Syndrome Features von Kitsiou-Tzeli, S, Kolialexi, A, Fryssira, H, Galla-Voumvouraki, A, Salavoura, K, Kanariou, M, Tsangaris, G Th, Kanavakis, E, Mavrou, A

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Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD) von Destouni, A, Poulou, M, Kakourou, G, Vrettou, C, Tzetis, M, Traeger-Synodinos, J, Kitsiou-Tzeli, S

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Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3–p14 and 4.22 Mb in 10q26.3 von Christopoulou, G, Tzetis, M, Konstantinidou, A.E, Tsezou, A, Kanavakis, E, Kitsiou-Tzeli, S, Velissariou, V

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Spontaneous Ovulation in a True Hermaphrodite with Normal Male Phenotype and a Rare 46,XX/47,XXY Klinefelter’s Mosaic Karyotype von Kanaka-Gantenbein, Ch, Papandreou, E., Stefanaki, K., Fryssira, H., Kolialexi, A., Sophocleous, C., Mavrou, A., Kitsiou-Tzeli, S., Chrousos, G. P.

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Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization von Manolakos, E, Kefalas, K, Neroutsou, R, Lagou, M, Kosyakova, N, Ewers, E, Ziegler, M, Weise, A, Tsoplou, P, Rapti, S M, Papoulidis, I, Anastasakis, E, Garas, A, Sotiriou, S, Eleftheriades, M, Peitsidis, P, Malathrakis, D, Thomaidis, L, Kitsos, G, Orru, S, Liehr, T, Petersen, M B, Kitsiou-Tzeli, S

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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies von Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Luigi Ardissino, Gian, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Penzien, Johannes, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G, Attie-Bitach, Tania, Valente, Enza Maria

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders von Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Cilio, Maria Roberta, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria

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P.273 - Early onset cataract: prominent feature in myotonic dystrophy type 2 von Papadopoulos, C., Xirou, S., Kekou, K., Kitsiou-Tzeli, S., Kararizou, E., Papadimas, G.

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Early onset cataract: prominent feature in myotonic dystrophy type 2 von Papadopoulos, C., Xirou, S., Kekou, K., Kitsiou-Tzeli, S., Kararizou, E., Papadimas, G.

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Greece: The Hellenic Association of Medical Geneticists von Tsenghi, Christine, Tzeli-Kitsiou, Sophia

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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement von Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Mazzotta, Annalisa, Bertini, Enrico, Boltshauser, Eugen, D'Arrigo, Stefano, Emma, Francesco, Fazzi, Elisa, Gallizzi, Romina, Gentile, Mattia, Loncarevic, Damir, Mejaski-Bosnjak, Vlatka, Pantaleoni, Chiara, Rigoli, Luciana, Salpietro, Carmelo D, Signorini, Sabrina, Stringini, Gilda Rita, Verloes, Alain, Zabloka, Dominika, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria

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The involvement of HER2 and p53 status in the regulation of telomerase in irradiated breast cancer cells von PAPANIKOLAOU, Vassilis, ILLOPOULOS, Dimitrios, DIMOU, Ioannis, DUBOS, Stephanie, TSOUGOS, Ioannis, THEODOROU, Kyriaki, KITSIOU-TZELI, Sofia, TSEZOU, Aspasia

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A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population von Pampanos, Andreas, Volaki, Konstantina, Kanavakis, Emmanuel, Papandreou, Ourania, Youroukos, Sotiris, Thomaidis, Loretta, Karkelis, Savvas, Tzetis, Maria, Kitsiou-Tzeli, Sophia

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