Resultats globals: 3 registres trobats en 0.02 segons.
Articles, 3 registres trobats
Articles 3 registres trobats  
1.
11 p, 563.5 KB Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) / Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bruno, Claudio (IRCCS Istituto Giannina Gaslini) ; Hadjigeorgiou, Georgios M. (University of Thessaly) ; Haller, Ronald G. (Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital) ; Laforêt, Pascal (Paris Saclay University) ; Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Martinuzzi, Andrea (IRCCS Eugenio Medea-Associazione "La Nostra Famiglia" Scientific Institute) ; Navarro, Carmen (Instituto de Investigación Biomédica de Vigo) ; Oflazer, Piraye (Istanbul University) ; Pouget, Jean (Assistance Publique-Hopitaux de Marseille) ; Quinlivan, Ros (UCL Institute of Neurology, National Hospital) ; Sacconi, Sabrina (University of Nice) ; Scalco, Renata S. (UCL Institute of Neurology (Regne Unit)) ; Toscano, Antonio (University of Messina) ; Vissing, John (Copenhagen University Hospital Rigshospitalet) ; Vorgerd, Matthias (University Hospital Bergmannsheil Bochum) ; Wakelin, Andrew (Association for Glycogen storage Disease (Regne Unit)) ; Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. [...]
2020 - 10.1186/s13023-020-01455-z
Orphanet Journal of Rare Diseases, Vol. 15 (october 2020)  
2.
1.4 MB The contribution of genetic variants of SLC2A1 gene in T2DM and T2DM-nephropathy : association study and meta-analysis / Stefanidis, I. (University of Thessaly School of Medicine. Department of Nephrology) ; Tziastoudi, M. (University of Thessaly School of Medicine. Department of Biomathematics) ; Tsironi, E. E. (University of Thessaly School of Medicine. Department of Ophthalmology) ; Dardiotis, Efthimios (University of Thessaly School of Medicine. Department of Neurology) ; Tachmitzi, S. V. (University of Thessaly School of Medicine. Department of Ophthalmology) ; Fotiadou, A. (University of Thessaly School of Medicine. Department of Ophthalmology) ; Pissas, G. (University of Thessaly School of Medicine. Department of Nephrology) ; Kytoudis, K. (University of Thessaly School of Medicine. Department of Nephrology) ; Sounidaki, M. (University of Thessaly School of Medicine. Department of Nephrology) ; Ampatzis, G. (University of Thessaly School of Medicine. Department of Nephrology) ; Mertens, P. R. (University of Magdeburg, Magdeburg. Department of Nephrology) ; Liakopoulos, V. (University of Thessaly School of Medicine. Department of Nephrology) ; Eleftheriadis, T. (University of Thessaly School of Medicine. Department of Nephrology) ; Hadjigeorgiou, Georgios M (University of Thessaly School of Medicine. Department of Neurology) ; Santos, Mauro (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Zintzaras, E. (Tufts University School of Medicine. The Institute for Clinical Research and Health Policy Studies)
An association study was conducted to investigate the relation between 14 variants of glucose transporter 1 gene (SLC2A1) and the risk of type 2 diabetes (T2DM) leading to nephropathy. We also performed a meta-analysis of 11 studies investigating association between diabetic nephropathy (DN) and SLC2A1 variants. [...]
2018 - 10.1080/0886022X.2018.1496931
Renal Failure, Vol. 40, Num. 1 (October 2018) , p. 561-576  
3.
7 p, 406.2 KB Genetic polymorphisms of FAS and EVER genes in a Greek population and their susceptibility to cervical cancer : a case control study / Pavlidou, Evangelia. (Geneva University Hospitals (Suïssa)) ; Daponte, Alexandros (University of Thessaly. Department of Obstetrics and Gynaecology. Faculty of Medicine) ; Egea, Raquel (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Dardiotis, Efthimios (University of Thessaly. Department of Neurology) ; Hadjigeorgiou, Georgios M. (University of Thessaly. Department of Neurology) ; Barbadilla Prados, Antonio (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Agorastos, Theodoros (Hippokrateion General Hospital of Thessaloniki)
Background: the aim of the study was to evaluate the association of two SNPs of EVER1/2 genes' region (rs2290907, rs16970849) and the FAS-670 polymorphism with the susceptibility to precancerous lesions and cervical cancer in a Greek population. [...]
2016 - 10.1186/s12885-016-2960-3
BMC Cancer, Vol. 16 (2016) , art. 923  

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