Medical genetics and genomic medicine in Greece: achievements and challenges

por Manoli, Irini, Fryssira, Helen
Publicado 2015

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4

por Selenti, Nikoletta, Tzetis, Maria, Braoudaki, Maria, Gianikou, Krinio, Kitsiou-Tzeli, Sofia, Fryssira, Helen
Publicado 2015

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4

por Selenti, Nikoletta, Tzetis, Maria, Braoudaki, Maria, Giannikou, Krinio, Kitsiou-Tzeli, Sofia, Fryssira, Helen
Publicado 2015

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

por Fryssira, Helen, Amenta, Stella, Kanber, Deniz, Sofocleous, Christalena, Lykopoulou, Evangelia, Kanaka-Gantenbein, Christina, Cerrato, Flavia, Lüdecke, Hermann-Josef, Bens, Susanne, Riccio, Andrea, Buiting, Karin
Publicado 2015

Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

por Guenat, David, Quentin, Samuel, Rizzari, Carmelo, Lundin, Catarina, Coliva, Tiziana, Edery, Patrick, Fryssira, Helen, Bermont, Laurent, Ferrand, Christophe, Soulier, Jean, Borg, Christophe, Rohrlich, Pierre-Simon
Publicado 2014

Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

por Suter, Aude‐Annick, Itin, Peter, Heinimann, Karl, Ahmed, Munaza, Ashraf, Tazeen, Fryssira, Helen, Kini, Usha, Lapunzina, Pablo, Miny, Peter, Sommerlund, Mette, Suri, Mohnish, Vaeth, Signe, Vasudevan, Pradeep, Gallati, Sabina
Publicado 2016

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

por van Rahden, Vanessa A, Rau, Isabella, Fuchs, Sigrid, Kosyna, Friederike K, de Almeida, Hiram Larangeira, Fryssira, Helen, Isidor, Bertrand, Jauch, Anna, Joubert, Madeleine, Lachmeijer, Augusta M A, Zweier, Christiane, Moog, Ute, Kutsche, Kerstin
Publicado 2014

Schimke immunoosseous dysplasia: defining skeletal features

por Hunter, Kshamta B., Lücke, Thomas, Spranger, Jürgen, Smithson, Sarah F., Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fründ, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajic, Natasa, Taha, Doris, Boerkoel, Cornelius F.
Publicado 2009

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

por Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J Marietta, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D Ross, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C Nur, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F
Publicado 2012

FOXI3 pathogenic variants cause one form of craniofacial microsomia

por Mao, Ke, Borel, Christelle, Ansar, Muhammad, Jolly, Angad, Makrythanasis, Periklis, Froehlich, Christine, Iwaszkiewicz, Justyna, Wang, Bingqing, Xu, Xiaopeng, Li, Qiang, Blanc, Xavier, Zhu, Hao, Chen, Qi, Jin, Fujun, Ankamreddy, Harinarayana, Singh, Sunita, Zhang, Hongyuan, Wang, Xiaogang, Chen, Peiwei, Ranza, Emmanuelle, Paracha, Sohail Aziz, Shah, Syed Fahim, Guida, Valentina, Piceci-Sparascio, Francesca, Melis, Daniela, Dallapiccola, Bruno, Digilio, Maria Cristina, Novelli, Antonio, Magliozzi, Monia, Fadda, Maria Teresa, Streff, Haley, Machol, Keren, Lewis, Richard A., Zoete, Vincent, Squeo, Gabriella Maria, Prontera, Paolo, Mancano, Giorgia, Gori, Giulia, Mariani, Milena, Selicorni, Angelo, Psoni, Stavroula, Fryssira, Helen, Douzgou, Sofia, Marlin, Sandrine, Biskup, Saskia, De Luca, Alessandro, Merla, Giuseppe, Zhao, Shouqin, Cox, Timothy C., Groves, Andrew K., Lupski, James R., Zhang, Qingguo, Zhang, Yong-Biao, Antonarakis, Stylianos E.
Publicado 2023