High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients

Autor: Mitrakos, A. Kattamis, A. Katsibardi, K. Papadhimitriou, S. Kitsiou-Tzeli, S. Kanavakis, E. Tzetis, M.

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=od______2127::3b183d2cc4cd493585ef95b3a52eb380
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078688

Dysmorphology services: a snapshot of current practices and a vision for the future

Autor: Emmanouel Kanavakis, E. Chervinsky, S. Kitsiou-Tzeli, Y. Gyftodimou, Jill Clayton-Smith, Sofia Douzgou, Dian Donnai, Stavit A. Shalev

Publikováno v: Clinical Genetics. 89:27-33

Dysmorphology concerns the recognition and management of rare, multiple anomaly syndromes. Genomic technologies and software for gestalt recognition will re-shape dysmorphology services. In order to reflect on a model of the service in the post-genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::03bd71f93fc1db203b1597f159b6cace
https://doi.org/10.1111/cge.12571

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Autor: S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi

Publikováno v: International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.

Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcf
https://doi.org/10.1002/humu.21239

Dysmorphology services: a snapshot of current practices and a vision for the future

Autor: S, Douzgou, E, Chervinsky, Y, Gyftodimou, S, Kitsiou-Tzeli, S, Shalev, E, Kanavakis, D, Donnai, J, Clayton-Smith

Publikováno v: Clinical genetics. 89(1)

Dysmorphology concerns the recognition and management of rare, multiple anomaly syndromes. Genomic technologies and software for gestalt recognition will re-shape dysmorphology services. In order to reflect on a model of the service in the post-genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::65b7671f974c5bbb4ba67202f5586c9a
https://pubmed.ncbi.nlm.nih.gov/25683496

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Autor: Makrythanasis, P. Nelis, M. Santoni, F.A. Guipponi, M. Vannier, A. Béna, F. Gimelli, S. Stathaki, E. Temtamy, S. Mégarbané, A. Masri, A. Aglan, M.S. Zaki, M.S. Bottani, A. Fokstuen, S. Gwanmesia, L. Aliferis, K. Bustamante Eduardo, M. Stamoulis, G. Psoni, S. Kitsiou-Tzeli, S. Fryssira, H. Kanavakis, E. Al-Allawi, N. Sefiani, A. Al Hait, S. Elalaoui, S.C. Jalkh, N. Al-Gazali, L. Al-Jasmi, F. Bouhamed, H.C. Abdalla, E. Cooper, D.N. Hamamy, H. Antonarakis, S.E.

Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a diagnosis in many cases. We employed exome sequencing to identify

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::de6e50fbe034d3c9fa0a7dfd96ababda
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087744