Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Ioannis Papaevripidou"'
Autor:
Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical
Externí odkaz:
https://doaj.org/article/433b40107103409f83ac2d77f6e8a618
Autor:
Eleni Angelopoulou, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Thomas Liehr, Yolanda Gyftodimou, Eunice G. Stefanou, Carolina Sismani
Publikováno v:
Heliyon, Vol 9, Iss 12, Pp e22987- (2023)
Chromosomal inversions are usually balanced structural chromosomal rearrangements that do not have an impact on the clinical phenotype of a carrier. The main clinical consequence of inversions is the risk for unbalanced gametes and offspring with sev
Externí odkaz:
https://doaj.org/article/ce32eafe88534e4cbd37c63911d53ea2
Autor:
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused by EXT1
Externí odkaz:
https://doaj.org/article/0a911331793b4b76a40738f99bf0e9cb
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:
Evie Kritioti, Athina Theodosiou, Thibaud Parpaite, Angelos Alexandrou, Nayia Nicolaou, Ioannis Papaevripidou, Nina Séjourné, Bertrand Coste, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0253562 (2021)
Multiple malformation syndromes (MMS) belong to a group of genetic disorders characterised by neurodevelopmental anomalies and congenital malformations. Here we explore for the first time the genetic aetiology of MMS using whole-exome sequencing (WES
Externí odkaz:
https://doaj.org/article/c361d68fa02b47d5abaf3fa68d1c32fc
Autor:
Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0205298 (2018)
The majority of apparently balanced translocation (ABT) carriers are phenotypically normal. However, several mechanisms were proposed to underlie phenotypes in affected ABT cases. In the current study, whole-genome mate-pair sequencing (WG-MPS) follo
Externí odkaz:
https://doaj.org/article/1a753c40fb8c4700a3dc9f77e19dea29
Autor:
Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Elisavet Efstathiou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Tanteles, George A. *
Publikováno v:
In European Journal of Medical Genetics July 2020 63(7)
Autor:
Pavlina Iliopoulou, Efstathios Tsitsopoulos, Ioannis Papaevripidou, Voula Velissariou, Dagmar Huhle, Maria Syrrou, Rozalia Neroutsou, Angelos Alexandrou, Stamatia-Maria Rapti, Monika Ziegler, Ludmila Kousoulidou, Marianna Robola, Sigrid Fuchs, Maja Hempel, Carolina Sismani, Athina Theodosiou, Max Duesberg, Magdalini Lagou, Thomas Liehr, Anastasia Spring
Publikováno v:
Journal of Human Genetics. 65:783-795
Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1-2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d213c2d472a1a49c49486436b8d785
https://doi.org/10.1038/s10038-020-0769-z
https://doi.org/10.1038/s10038-020-0769-z
Autor:
Constantia Aristidou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Zoe Kosmaidou-Aravidou, Farkhondeh Behjati, Violetta Christophidou-Anastasiadou, George A. Tanteles, Carolina Sismani
Publikováno v:
Genes; Volume 14; Issue 1; Pages: 82
Familial apparently balanced translocations (ABTs) are usually not associated with a phenotype; however, rarely, ABTs segregate with discordant phenotypes in family members carrying identical rearrangements. The current study was a follow-up investig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7b35cc5903c90f768614d335ad17c5f
https://doi.org/10.3390/genes14010082
https://doi.org/10.3390/genes14010082
Autor:
Athina Theodosiou, Violetta Christophidou-Anastasiadou, Angelos Alexandrou, Ludmila Kousoulidou, Ioanna Alexandrou, George A. Tanteles, Carolina Sismani, Ioannis Papaevripidou, Paola Evangelidou
Publikováno v:
Clinical Case Reports
Key Clinical Message We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 gene, with random X‐chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c7fa8faa5d0a50a041e5d7a4ce98a9a
https://doi.org/10.1002/ccr3.1985
https://doi.org/10.1002/ccr3.1985