Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Violetta Anastasiadou"'
Autor:
Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou, Anthi Drousiotou, Petros P. Petrou
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101158- (2024)
Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene. Five Cypriot patients (four males and one female) were dia
Externí odkaz:
https://doaj.org/article/7f951476c3c046ca93de03b375035e83
Autor:
Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101083- (2024)
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of
Externí odkaz:
https://doaj.org/article/6bd5436426fd421e948f26520ed12247
Autor:
Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H. Jacobs, George J.G. Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100997- (2023)
Pompe disease is a rare metabolic myopathy caused by pathogenic variants affecting the activity of the lysosomal glycogen-degrading enzyme acid alpha-glucosidase (GAA). Impaired GAA function results in the accumulation of undegraded glycogen within l
Externí odkaz:
https://doaj.org/article/1393d2d27d9e4b658ab162df0508fc9f
Autor:
Petroula Gerasimou, Laura Koumas, Andri Miltiadous, Ioannis Kyprianou, Jianxiang Chi, Rafaella Gavrielidou, Elena Socratous, Loizos Loizou, Eleni Papachristodoulou, Evagelia Karaoli, Anastasios Loizos, Violetta Anastasiadou, Paul Costeas
Publikováno v:
Human Pathology: Case Reports, Vol 22, Iss , Pp 200442- (2020)
The DNA ligase IV syndrome is a rare hereditary disorder associated with impaired DNA double-strand break repair mechanisms, associated with combined immunodeficiency. We investigated a 12-year old patient with obvious syndromic features, severe micr
Externí odkaz:
https://doaj.org/article/96a0a6aed7b345c8810f87aa72f44033
Autor:
Charita M Christou, Andreas Hadjisavvas, Maria Kyratzi, Christina Flouri, Ioanna Neophytou, Violetta Anastasiadou, Maria A Loizidou, Kyriacos Kyriacou
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e93400 (2014)
The identification of variants of unknown clinical significance (VUS) in the BRCA1 gene complicates genetic counselling and causes additional anxiety to carriers. In silico approaches currently used for VUS pathogenicity assessment are predictive and
Externí odkaz:
https://doaj.org/article/eb74828f6312487990325fc6454e0216
Autor:
Maria A Loizidou, Ioanna Neophytou, Demetris Papamichael, Panteleimon Kountourakis, Vassilios Vassiliou, Yiola Marcou, Eleni Kakouri, Georgios Ioannidis, Chrystalla Philippou, Elena Spanou, George A Tanteles, Violetta Anastasiadou, Andreas Hadjisavvas, Kyriacos Kyriacou
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e105501 (2014)
Lynch syndrome is the most common form of hereditary colorectal cancer and is caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Mutation carriers have an increased lifetime risk of developing colorectal cancer
Externí odkaz:
https://doaj.org/article/29388ee8ad0c4ff986cbbb6b9246ada1
Publikováno v:
European Journal of Medical Genetics
Neurodegeneration with brain iron accumulation (NBIA) comprises a group of rare genetic disorders characterized by progressive extrapyramidal and other neurological symptoms due to focal iron accumulation in the basal ganglia (Adidi et al., 2016). β
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::464ab3281a82ac2d678b91aac237a88d
https://pubmed.ncbi.nlm.nih.gov/31536831
https://pubmed.ncbi.nlm.nih.gov/31536831
Autor:
Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Violetta Anastasiadou, Carolina Sismani, Ludmila Kousoulidou, George A. Tanteles
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::421dfa848192767b0766d7f2a842c6b8
Autor:
Yiola Marcou, Eleni Kakouri, Demetris Papamichael, Maria A. Loizidou, Andreas Hadjisavvas, George A. Tanteles, Elena Spanou, Panteleimon Kountourakis, Panagiota Pirpa, Georgios Ioannidis, Simon Malas, Violetta Anastasiadou, Maria Daniel, Turem Delikurt, Kyriacos Kyriacou, Ioanna Zouvani
Publikováno v:
Clinical Genetics. 91:611-615
This paper presents the largest study in Cyprus evaluating the frequency and distribution of BRCA1/2 mutations in a high risk patient cohort. Deleterious mutations in the BRCA1/2 genes were identified in 68 of the 527 patients tested (13%). It is of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86649af4e1e839b8466788ea9cf2d74d
https://doi.org/10.1111/cge.12886
https://doi.org/10.1111/cge.12886
Autor:
Costas Koufaris, Carolina Sismani, Angelos Alexandrou, George A. Tanteles, Violetta Anastasiadou
Publikováno v:
Biomedical Reports
Approximately 10-15% of intellectual disability (ID) cases are caused by genetic aberrations affecting chromosome X, a condition termed X-linked ID (XLID). Examination by whole-exome sequencing of two male siblings with microcephaly and suspected XLI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc1ba49e52ba859c7c28d22634dc1fab
https://doi.org/10.3892/br.2015.559
https://doi.org/10.3892/br.2015.559