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Πλοήγηση ανά Θέμα "Genetic Testing"

Αποτελέσματα 1-7 από 7

    • BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects 

      Apostolou P., Fostira F., Kouroussis C., Kalfakakou D., Delimitsou A., Agelaki S., Androulakis N., Christodoulou C., Kalbakis K., Kalykaki A., Sanidas E., Papadimitriou C., Vamvakas L., Georgoulias V., Mavroudis D., Yannoukakos D., Konstantopoulou I., Saloustros E. (2020)
      Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ...

    • Clinical Outcome, Socioeconomic Status and Psychological Constrains of Patients Undergoing Preimplantation Genetic Testing (PGT) in Northern Greece 

      Patrikiou A., Papadopoulou A., Noutsos C., Tzekis P., Koios N., Kourempeles I., Anifandis G., Sioga A., Grimbizis G., Tarlatzis B.C., Chatzimeletiou K. (2022)
      Background and objectives: Preimplantation genetic testing (PGT) offers patients the possibility of having a healthy baby free of chromosomal or genetic disorders. The present study focuses on the application of PGT for ...

    • Drug-Induced Skin Adverse Reactions: The Role of Pharmacogenomics in Their Prevention 

      Gerogianni K., Tsezou A., Dimas K. (2018)
      Adverse drug reactions (ADRs) affect many patients and remain a major public health problem, as they are a common cause of morbidity and mortality. It is estimated that ADRs are responsible for about 6% of hospital admissions ...

    • International Consensus on the Use of Genetics in the Management of Hereditary Angioedema 

      Germenis A.E., Margaglione M., Pesquero J.B., Farkas H., Cichon S., Csuka D., Lera A.L., Rijavec M., Jolles S., Szilagyi A., Trascasa M.L., Veronez C.L., Drouet C., Zamanakou M., Andrejevic S., Aygören-Pürsün E., Bara N.-A., Bernstein J., Bork K., Bouillet L., Bova M., Boysen H.H., Bygum A., Caballero T., Castaldo A., Christiansen S., Cicardi M., Fabiani J., Katelaris C., Dewald G., Gökmen N.M., Gonzalez-Quevedo M.T., Gooi J., Grivcheva-Panovska V., Grumach A., Hakl R., Hardy G., Jesenak M., Kaplan A., Kirschfink M., Köhalmi K.V., Leibovich I., Longhurst H.J., Lumry W., Magerl M., Saguer I.M., Nagy I.B., Nieto S., Nordenfelt P., Porębski G., Psarros F., Reshef A., Riedl M.A., Sheikh F., Peter S., Speletas M., Staevska M., Stobiecki M., Triggiani M., Veszeli N., Waserman S., Weber C., Wuillemin W., Zuraw B. (2020)
      Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from ...

    • Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece 

      Fountzilas E., Apostolou P., Vasiliadis A.V., Aivazi D., Saloustros E., Fostira F. (2022)
      Genetic testing has been implemented in clinical practice. However, data on physician’s practices and education related to cancer genetics, risk assessment and clinical management in Greece, is limited. In Greece, genetic ...

    • Screening for the C9orf72 expansion in Greek huntington disease phenocopies and controls and meta-analysis of current data 

      Rikos D., Marogianni C., Provatas A., Bourinaris T., Arnaoutoglou M., Stathis P., Patrinos G.P., Dardiotis E., Hadjigeorgiou G.M., Xiromerisiou G. (2020)
      Background: Several European studies examined the role of C9orf72 repeat expansion in patients with Huntington-disease like phenotypes (HD-L). The scope of our study is to investigate the expansion frequency in a Greek ...

    • Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience 

      Effraimidis G., Rasmussen Å.K., Dunoe M., Hasholt L.F., Wibrand F., Sorensen S.S., Lund A.M., Kober L., Bundgaard H., Yazdanfard P.D.W., Oturai P., Larsen V.A., de Abreu V.H.F., Enevoldsen L.H., Kristensen T., Svenstrup K., Bille M.B., Arif F., Mogensen M., Klokker M., Backer V., Kistorp C., Feldt-Rasmussen U. (2022)
      The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort ...