Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited
Karagianni, Paraskevi, Lambropoulos, Vassilios, Stergidou, Dorothea, Fryssira, Helena, Chatziioannidis, Ilias, Spyridakis, Ioannis
Published in American journal of medical genetics. Part A (01.05.2016)
Published in American journal of medical genetics. Part A (01.05.2016)
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Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH
Kaliakatsos, Marios, Giannakopoulos, Aristeidis, Fryssira, Helena, Kanariou, Maria, Skiathitou, Anna-Venetia, Siahanidou, Tania, Giannikou, Krinio, Makrythanasis, Periklis, Kanavakis, Emmanuel, Tzetis, Maria
Published in Journal of human genetics (01.11.2010)
Published in Journal of human genetics (01.11.2010)
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Journal Article
Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome
Artemios, Pehlivanidis, Areti, Spyropoulou, Katerina, Papanikolaou, Helen, Fryssira, Eirini, Tsoytsoy, Charalambos, Papageorgiou
Published in Journal of autism and developmental disorders (01.07.2019)
Published in Journal of autism and developmental disorders (01.07.2019)
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Journal Article
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array
Kosma, Konstantina, Mitrakos, Anastasios, Sofokleous, Christalena, Papadimas, George, Fryssira, Helena, Kitsiou-Tzeli, Sofia, Tzetis, Maria
Published in Neuropediatrics (01.02.2019)
Published in Neuropediatrics (01.02.2019)
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PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance
Linglart, Agnès, Fryssira, Helena, Hiort, Olaf, Holterhus, Paul-Martin, Perez de Nanclares, Guiomar, Argente, Jesús, Heinrichs, Claudine, Kuechler, Alma, Mantovani, Giovanna, Leheup, Bruno, Wicart, Philippe, Chassot, Virginie, Schmidt, Dorothée, Rubio-Cabezas, Óscar, Richter-Unruh, Annette, Berrade, Sara, Pereda, Arrate, Boros, Emese, Muñoz-Calvo, Maria Teresa, Castori, Marco, Gunes, Yasemin, Bertrand, Guylene, Bougnères, Pierre, Clauser, Eric, Silve, Caroline
Published in The journal of clinical endocrinology and metabolism (01.12.2012)
Published in The journal of clinical endocrinology and metabolism (01.12.2012)
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Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Marais, Anett, Bertoli-Avella, Aida M., Beetz, Christian, Altunoglu, Umut, Alhashem, Amal, Mohamed, Sarar, Alghamdi, Abdulaziz, Willems, Patrick, Tsoutsou, Eirini, Fryssira, Helena, Pons, Roser, Almarzooq, Reem, Karatoprak, Elif Yüksel, Ayaz, Akif, Ünverengil, Gökçen, Calvo, Maria, Yüksel, Zafer, Bauer, Peter
Published in European journal of medical genetics (01.08.2022)
Published in European journal of medical genetics (01.08.2022)
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Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly
Tsoutsou, Eirini, Tzetis, Maria, Giannikou, Krinio, Braoudaki, Maria, Mitrakos, Anastasis, Amenta, Stella, Selenti, Nikoletta, Kanavakis, Emmanouil, Zafeiriou, Dimitrios, Kitsiou-Tzeli, Sophia, Fryssira, Helena
Published in Pediatric research (01.08.2017)
Published in Pediatric research (01.08.2017)
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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
Sailani, M Reza, Makrythanasis, Periklis, Valsesia, Armand, Santoni, Federico A, Deutsch, Samuel, Popadin, Konstantin, Borel, Christelle, Migliavacca, Eugenia, Sharp, Andrew J, Duriaux Sail, Genevieve, Falconnet, Emilie, Rabionet, Kelly, Serra-Juhé, Clara, Vicari, Stefano, Laux, Daniela, Grattau, Yann, Dembour, Guy, Megarbane, Andre, Touraine, Renaud, Stora, Samantha, Kitsiou, Sofia, Fryssira, Helena, Chatzisevastou-Loukidou, Chariklia, Kanavakis, Emmanouel, Merla, Giuseppe, Bonnet, Damien, Pérez-Jurado, Luis A, Estivill, Xavier, Delabar, Jean M, Antonarakis, Stylianos E
Published in Genome research (01.09.2013)
Published in Genome research (01.09.2013)
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Journal Article
Cantú Syndrome Associated with Ovarian Agenesis
Fryssira, Helena, Psoni, Stavroula, Amenta, Styliani, Tsoutsou, Eirini, Sofocleous, Christalena, Manolakos, Emmanouil, Gavra, Maria, Lüdecke, Hermann-Joseph, Czeschik, Johanna-Christina
Published in Molecular syndromology (01.06.2017)
Published in Molecular syndromology (01.06.2017)
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Journal Article
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling
Chapman, Kimberly A, Ullah, Farid, Yahiku, Zachary A, Kodiparthi, Sri Varsha, Kellaris, Georgios, Correia, Sandrina P, Stödberg, Tommy, Sofokleous, Christalena, Marinakis, Nikolaos M, Fryssira, Helena, Tsoutsou, Eirini, Traeger-Synodinos, Jan, Accogli, Andrea, Salpietro, Vincenzo, Striano, Pasquale, Berger, Seth I, Pond, Kelvin W, Sirimulla, Suman, Davis, Erica E, Bhattacharya, Martha Rc
Published in medRxiv : the preprint server for health sciences (01.07.2024)
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Published in medRxiv : the preprint server for health sciences (01.07.2024)
Journal Article
Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis
Fryssira, H, Palmer, R, Hallidie-Smith, K A, Taylor, J, Donnai, D, Reardon, W
Published in Journal of medical genetics (01.04.1997)
Published in Journal of medical genetics (01.04.1997)
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