A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder

Tekijä KOUFARIS, COSTAS, ALEXANDROU, ANGELOS, TANTELES, GEORGE A., ANASTASIADOU, VIOLETTA, SISMANI, CAROLINA
Julkaisussa Biomed Rep (2016)

Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

Tekijä Sargiannidou, Irene, Christophidou-Anastasiadou, Violetta, Hadjisavvas, Andreas, Tanteles, George A., Kleopa, Kleopas A.
Julkaisussa Front Genet (2021)

Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report

Tekijä LOIZIDOU, MARIA A., HADJISAVVAS, ANDREAS, TANTELES, GEORGE A., SPANOU-ARISTIDOU, ELENA, KYRIACOU, KYRIACOS, CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA
Julkaisussa Oncol Lett (2016)

Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports

Tekijä Keravnou, Anna, Bashiardes, Evy, Barberis, Vassilis, Michailidou, Kyriaki, Soteriou, Marinos, Tanteles, George A., Cariolou, Marios A.
Julkaisussa Mol Genet Genomic Med (2020)

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

Tekijä Tanteles, George A., Nikolaou, Elpiniki, Christou, Yiolanda, Alexandrou, Angelos, Evangelidou, Paola, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Papacostas, Savvas S.
Julkaisussa Case Rep Genet (2015)

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

Tekijä Neocleous, Vassos, Yiallouros, Panayiotis K., Tanteles, George A., Costi, Constantina, Moutafi, Maria, Ioannou, Phivos, Patsalis, Philippos C., Sismani, Carolina, Phylactou, Leonidas A.
Julkaistu 2014

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

Tekijä Christou, Yiolanda-Panayiota, Tanteles, George A., Kkolou, Elena, Ormiston, Annita, Konstantopoulos, Kostas, Beconi, Maria, Marshall, Randall D., Plotkin, Horacio, Kleopa, Kleopas A.
Julkaisussa Case Rep Neurol Med (2017)

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation

Tekijä Syrimis, Andreas, Nicolaou, Nayia, Alexandrou, Angelos, Papaevripidou, Ioannis, Nicolaou, Michael, Loukianou, Eleni, Sismani, Carolina, Malas, Stavros, Christophidou-Anastasiadou, Violetta, Tanteles, George A.
Julkaisussa Mol Med Rep (2018)

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population

Tekijä Kritioti, Evie, Theodosiou, Athina, Parpaite, Thibaud, Alexandrou, Angelos, Nicolaou, Nayia, Papaevripidou, Ioannis, Séjourné, Nina, Coste, Bertrand, Christophidou-Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina
Julkaisussa PLoS One (2021)

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Tekijä Georgiou, Theodoros, Mavrikiou, Gavriella, Alexandrou, Angelos, Spanou-Aristidou, Elena, Savva, Isavella, Christodoulides, Theodoros, Krasia, Maria, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Drousiotou, Anthi, Tanteles, George A.
Julkaisussa Case Rep Genet (2016)

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

Tekijä Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Phedonos, Alexia A. P., Picolos, Michalis, Andreou, Elena, Kyriakides, Tassos C., Tanteles, George A., Shammas, Christos, Phylactou, Leonidas A., Skordis, Nicos
Julkaisussa Int J Endocrinol (2017)

NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases

Tekijä Zanti, Maria, Loizidou, Maria A., Michailidou, Kyriaki, Pirpa, Panagiota, Machattou, Christina, Marcou, Yiola, Kyriakou, Flora, Kakouri, Eleni, Tanteles, George A., Spanou, Elena, Spyrou, George M., Kyriacou, Kyriacos, Hadjisavvas, Andreas
Julkaisussa Cancers (Basel) (2020)

The Mutational Spectrum of Lynch Syndrome in Cyprus

Tekijä Loizidou, Maria A., Neophytou, Ioanna, Papamichael, Demetris, Kountourakis, Panteleimon, Vassiliou, Vassilios, Marcou, Yiola, Kakouri, Eleni, Ioannidis, Georgios, Philippou, Chrystalla, Spanou, Elena, Tanteles, George A., Anastasiadou, Violetta, Hadjisavvas, Andreas, Kyriacou, Kyriacos
Julkaistu 2014

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of...

Tekijä Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Tanteles, George A., Schiza, Melpo, Cinarli, Feride, Nicolaides, Nicolas C., Oulas, Anastasis, Spyrou, George M., Mantzoros, Christos S., Vlachakis, Dimitrios, Skordis, Nicos, Phylactou, Leonidas A.
Julkaisussa Front Endocrinol (Lausanne) (2020)

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Tekijä MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba‐Papanicolaou, Eleni, Christophidou‐Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.
Julkaisussa Hum Mutat (2020)