Όλο το DSpace

Πλοήγηση ανά Θέμα "homozygote"

Αποτελέσματα 1-16 από 16

    • Apolipoprotein E Polymorphism and Left Ventricular Failure in Beta-Thalassemia: A Multivariate Meta-Analysis 

      Dimou N.L., Pantavou K.G., Bagos P.G. (2017)
      Apolipoprotein E (ApoE) is potentially a genetic risk factor for the development of left ventricular failure (LVF), the main cause of death in beta-thalassemia homozygotes. In the present study, we synthesize the results ...

    • Association analysis of FTO gene polymorphisms with obesity in Greek adults 

      Goutzelas Y., Kotsa K., Vasilopoulos Y., Tsekmekidou X., Stamatis C., Yovos J.G., Sarafidou T., Mamuris Z. (2017)
      Nowadays, obesity is the greatest scourge worldwide, particularly for the developed countries and is a huge burden for the public health. Over the past decade, GWAS have revealed a number of genes associated with obesity. ...

    • Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores 

      de Rojas I., Moreno-Grau S., Tesi N., Grenier-Boley B., Andrade V., Jansen I.E., Pedersen N.L., Stringa N., Zettergren A., Hernández I., Montrreal L., Antúnez C., Antonell A., Tankard R.M., Bis J.C., Sims R., Bellenguez C., Quintela I., González-Perez A., Calero M., Franco-Macías E., Macías J., Blesa R., Cervera-Carles L., Menéndez-González M., Frank-García A., Royo J.L., Moreno F., Huerto Vilas R., Baquero M., Diez-Fairen M., Lage C., García-Madrona S., García-González P., Alarcón-Martín E., Valero S., Sotolongo-Grau O., Ullgren A., Naj A.C., Lemstra A.W., Benaque A., Pérez-Cordón A., Benussi A., Rábano A., Padovani A., Squassina A., de Mendonça A., Arias Pastor A., Kok A.A.L., Meggy A., Pastor A.B., Espinosa A., Corma-Gómez A., Martín Montes A., Sanabria Á., DeStefano A.L., Schneider A., Haapasalo A., Kinhult Ståhlbom A., Tybjærg-Hansen A., Hartmann A.M., Spottke A., Corbatón-Anchuelo A., Rongve A., Borroni B., Arosio B., Nacmias B., Nordestgaard B.G., Kunkle B.W., Charbonnier C., Abdelnour C., Masullo C., Martínez Rodríguez C., Muñoz-Fernandez C., Dufouil C., Graff C., Ferreira C.B., Chillotti C., Reynolds C.A., Fenoglio C., Van Broeckhoven C., Clark C., Pisanu C., Satizabal C.L., Holmes C., Buiza-Rueda D., Aarsland D., Rujescu D., Alcolea D., Galimberti D., Wallon D., Seripa D., Grünblatt E., Dardiotis E., Düzel E., Scarpini E., Conti E., Rubino E., Gelpi E., Rodriguez-Rodriguez E., Duron E., Boerwinkle E., Ferri E., Tagliavini F., Küçükali F., Pasquier F., Sanchez-Garcia F., Mangialasche F., Jessen F., Nicolas G., Selbæk G., Ortega G., Chêne G., Hadjigeorgiou G., Rossi G., Spalletta G., Giaccone G., Grande G., Binetti G., Papenberg G., Hampel H., Bailly H., Zetterberg H., Soininen H., Karlsson I.K., Alvarez I., Appollonio I., Giegling I., Skoog I., Saltvedt I., Rainero I., Rosas Allende I., Hort J., Diehl-Schmid J., Van Dongen J., Vidal J.-S., Lehtisalo J., Wiltfang J., Thomassen J.Q., Kornhuber J., Haines J.L., Vogelgsang J., Pineda J.A., Fortea J., Popp J., Deckert J., Buerger K., Morgan K., Fließbach K., Sleegers K., Molina-Porcel L., Kilander L., Weinhold L., Farrer L.A., Wang L.-S., Kleineidam L., Farotti L., Parnetti L., Tremolizzo L., Hausner L., Benussi L., Froelich L., Ikram M.A., Deniz-Naranjo M.C., Tsolaki M., Rosende-Roca M., Löwenmark M., Hulsman M., Spallazzi M., Pericak-Vance M.A., Esiri M., Bernal Sánchez-Arjona M., Dalmasso M.C., Martínez-Larrad M.T., Arcaro M., Nöthen M.M., Fernández-Fuertes M., Dichgans M., Ingelsson M., Herrmann M.J., Scherer M., Vyhnalek M., Kosmidis M.H., Yannakoulia M., Schmid M., Ewers M., Heneka M.T., Wagner M., Scamosci M., Kivipelto M., Hiltunen M., Zulaica M., Alegret M., Fornage M., Roberto N., van Schoor N.M., Seidu N.M., Banaj N., Armstrong N.J., Scarmeas N., Scherbaum N., Goldhardt O., Hanon O., Peters O., Skrobot O.A., Quenez O., Lerch O., Bossù P., Caffarra P., Dionigi Rossi P., Sakka P., Hoffmann P., Holmans P.A., Fischer P., Riederer P., Yang Q., Marshall R., Kalaria R.N., Mayeux R., Vandenberghe R., Cecchetti R., Ghidoni R., Frikke-Schmidt R., Sorbi S., Hägg S., Engelborghs S., Helisalmi S., Botne Sando S., Kern S., Archetti S., Boschi S., Fostinelli S., Gil S., Mendoza S., Mead S., Ciccone S., Djurovic S., Heilmann-Heimbach S., Riedel-Heller S., Kuulasmaa T., del Ser T., Lebouvier T., Polak T., Ngandu T., Grimmer T., Bessi V., Escott-Price V., Giedraitis V., Deramecourt V., Maier W., Jian X., Pijnenburg Y.A.L., Smith A.D., Saenz A., Bizzarro A., Lauria A., Vacca A., Solomon A., Anastasiou A., Richardson A., Boland A., Koivisto A., Daniele A., Greco A., Marianthi A., McGuinness B., Fin B., Ferrari C., Custodero C., Ferrarese C., Ingino C., Mangone C., Reyes Toso C., Martínez C., Cuesta C., Muchnik C., Joachim C., Ortiz C., Besse C., Johansson C., Zoia C.P., Laske C., Anastasiou C., Palacio D.L., Politis D.G., Janowitz D., Craig D., Mann D.M., Neary D., Jürgen D., Daian D., Belezhanska D., Kohler E., Castaño E.M., Koutsouraki E., Chipi E., De Roeck E., Costantini E., Vardy E.R.L.C., Piras F., Roveta F., Piras F., Prestia F.A., Assogna F., Salani F., Sala G., Lacidogna G., Novack G., Wilcock G., Thonberg H., Kölsch H., Weber H., Boecker H., Etchepareborda I., Piaceri I., Tuomilehto J., Lindström J., Laczo J., Johnston J., Deleuze J.-F., Harris J., Schott J.M., Priller J., Bacha J.I., Snowden J., Lisso J., Mihova K.Y., Traykov L., Morelli L., Brusco L.I., Rainer M., Takalo M., Bjerke M., Del Zompo M., Serpente M., Sanchez Abalos M., Rios M., Peltonen M., Herrman M.J., Kosmidis M.H., Kohler M., Rojo M., Jones M., Orsini M., Medel N., Olivar N., Fox N.C., Salvadori N., Hooper N.M., Galeano P., Solis P., Bastiani P., Mecocci P., Passmore P., Heun R., Antikainen R., Olaso R., Perneczky R., Germani S., López-García S., Love S., Mehrabian S., Bagnoli S., Kochen S., Andreoni S., Teipel S., Todd S., Pickering-Brown S., Natunen T., Tegos T., Laatikainen T., Strandberg T., Polvikoski T.M., Matoska V., Ciullo V., Cores V., Solfrizzi V., Lisetti V., Sevillano Z., Abdelnour C., Aguilera N., Alarcon E., Alegret M., Benaque A., Boada M., Buendia M., Cañabate P., Carracedo A., Corbatón-Anchuelo A., Diego S., Espinosa A., Gailhajenet A., Gil S., Guitart M., Hernández I., Ibarria M., Lafuente A., Macias J., Maroñas O., Martín E., Martínez M.T., Marquié M., Mauleón A., Montrreal L., Moreno-Grau S., Moreno M., Orellana A., Ortega G., Pancho A., Pelejá E., Pérez-Cordon A., Preckler S., Quintela I., Real L.M., Rosende-Roca M., Ruiz A., Sáez M.E., Sanabria A., Serrano-Rios M., Sotolongo-Grau O., Tárraga L., Valero S., Vargas L., Adarmes-Gómez A.D., Alarcón-Martín E., Alonso M.D., Álvarez I., Álvarez V., Amer-Ferrer G., Antequera M., Antúnez C., Baquero M., Bernal M., Blesa R., Boada M., Buiza-Rueda D., Bullido M.J., Burguera J.A., Calero M., Carrillo F., Carrión-Claro M., Casajeros M.J., Clarimón J., Cruz-Gamero J.M., de Pancorbo M.M., del Ser T., Diez-Fairen M., Escuela R., Garrote-Espina L., Fortea J., Franco-Macías E., Frank-García A., García-Alberca J.M., Garcia Madrona S., Garcia-Ribas G., Gómez-Garre P., Hernández I., Hevilla S., Jesús S., Labrador Espinosa M.A., Lage C., Legaz A., Lleó A., Lopez de Munain A., López-García S., Macias-García D., Manzanares S., Marín M., Marín-Muñoz J., Marín T., Marquié M., Martín Montes A., Martínez B., Martínez C., Martínez V., Martínez-Lage Álvarez P., Medina M., Mendioroz Iriarte M., Mir P., Molinuevo J.L., Pastor P., Pérez-Tur J., Periñán-Tocino T., Pineda-Sanchez R., Piñol-Ripoll G., Rábano A., Real de Asúa D., Rodrigo S., Rodríguez-Rodríguez E., Royo J.L., Ruiz A., Sanchez del Valle Díaz R., Sánchez-Juan P., Sastre I., Valero S., Vicente M.P., Vigo-Ortega R., Vivancos L., Macleod C., McCracken C., Brayne C., Bresner C., Grozeva D., Bellou E., Sommerville E.W., Matthews F., Leonenko G., Menzies G., Windle G., Harwood J., Phillips J., Bennett K., Luckuck L., Clare L., Woods R., Saad S., Burholt V., Jansen I.E., Rongve A., Kehoe P.G., Garcia-Ribas G., Sánchez-Juan P., Pastor P., Lopez de Munain A., García-Alberca J.M., Bullido M.J., Álvarez V., Real L.M., Scheltens P., Holstege H., Marquié M., Sáez M.E., Amouyel P., Schellenberg G.D., Williams J., Seshadri S., van Duijn C.M., Mather K.A., Sánchez-Valle R., Serrano-Ríos M., Orellana A., Tárraga L., Blennow K., Huisman M., Andreassen O.A., Posthuma D., Clarimón J., Boada M., van der Flier W.M., Ramirez A., Lambert J.-C., van der Lee S.J., Ruiz A., EADB contributors, The GR@ACE study group, DEGESCO consortium, IGAP (ADGC, CHARGE, EADI, GERAD), PGC-ALZ consortia (2021)
      Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ...

    • Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis 

      Tzetis, M.; Kaliakatsos, M.; Fotoulaki, B.; Papatheodorou, A.; Doudounakis, S.; Tsezou, A.; Makrythanasis, P.; Kanavakis, E.; Nousia-arvanitakis, S. (2007)
      Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area ...

    • Dementia incidence in the elderly population of greece: Results from the HELIAD study 

      Vlachos G.S., Kosmidis M.H., Yannakoulia M., Dardiotis E., Hadjigeorgiou G., Tzoulaki I., Georgiou A.N., Sakka P., Anastasiou C.A., Stefanis L., Scarmeas N. (2021)
      Objectives:Recently a declining trend in dementia incidence rates has been reported in high-income countries. We investigated dementia incidence in a representative sample of the Greek population in the age group of 65 ...

    • FcγRIIa-H131R variant is associated with inferior response in diffuse large B cell lymphoma: A meta-analysis of genetic risk 

      Ziakas P.D., Poulou L.S., Zintzaras E. (2016)
      Purpose: Low-affinity variants FcγRIIIa-V158F and FcγRI-Ia-H131R may alter response to rituximab-based chemotherapy in diffuse large B-cell lymphoma (DLBCL) but available clinical evidence is inconclusive. Our purpose was ...

    • Genetic contribution of MHC class II genes in susceptibility to west nile virus infection 

      Sarri C.A., Markantoni M., Stamatis C., Papa A., Tsakris A., Pervanidou D., Baka A., Politis C., Billinis C., Hadjichristodoulou C., Mamuris Z. (2016)
      WNV is a zoonotic neurotropic flavivirus that has recently emerged globally as a significant cause of viral encephalitis. The last five years, 624 incidents of WNV infection have been reported in Greece. The risk for severe ...

    • Genetic determinants of C1 inhibitor deficiency angioedema age of onset 

      Gianni P., Loules G., Zamanakou M., Kompoti M., Csuka D., Psarros F., Magerl M., Moldovan D., Maurer M., Speletas M.G., Farkas H., Germenis A.E. (2017)
      Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological ...

    • Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study 

      Manali E.D., Kannengiesser C., Borie R., Ba I., Bouros D., Markopoulou A., Antoniou K., Kolilekas L., Papaioannou A.I., Tzilas V., Tzouvelekis A., Daniil Z., Fouka E., Papakosta D., Xyfteri A., Karakatsani A., Loukides S., Korbila I., Tomos I.P., Konstantinidis A.K., Gogali A., Steiropoulos P., Papanikolaou I.C., Bazaka C., Haritou A., Vassilakopoulos T., Maniati M., Kagouridis K., Markozannes E., Bouros E., Rampiadou C., Kounti G., Trachalaki A., Dimeas I., Karampitsakos T., Lyberopoulos P., Malamadakis N., Spyropoulou S., Revy P., Lainey E., Dieudé P., Rebah K., Ménard C., Oudin C., Masson C., Plessier A., Legendre M., Nathan N., Coulomb-L'hermine A., Clement A., Amselem S., Boileau C., Crestani B., Papiris S. (2022)
      Background: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide ...

    • Impact of renin–angiotensin–aldosterone system polymorphisms on myocardial perfusion: Correlations with myocardial single photon emission computed tomography-derived parameters 

      Angelidis G., Samara M., Papathanassiou M., Satra M., Valotassiou V., Tsougos I., Psimadas D., Tzavara C., Alexiou S., Koutsikos J., Demakopoulos N., Giamouzis G., Triposkiadis F., Skoularigis J., Kollia P., Georgoulias P. (2019)
      Background: Renin–angiotensin–aldosterone system (RAAS) has an important role in atherosclerosis. We investigated the effects of six RAAS gene polymorphisms on myocardial perfusion. Methods and Results: We examined 810 ...

    • Influence of a CYP1A2 polymorphism on post-exercise heart rate variability in response to caffeine intake: a double-blind, placebo-controlled trial 

      Thomas R.M., Algrain H.A., Ryan E.J., Popojas A., Carrigan P., Abdulrahman A., Carrillo A.E. (2017)
      Background: Proposed differences in caffeine metabolism due to the CYP1A2*1F polymorphism have been linked to variations in cardiovascular disease risk. Aims: We examined the influence of a CYP1A2*1F polymorphism on ...

    • Irradiation induced inversions suppress recombination between the M locus and morphological markers in Aedes aegypti 

      Augustinos A.A., Misbah-ul-Haq M., Carvalho D.O., de la Fuente L.D., Koskinioti P., Bourtzis K. (2020)
      Background: Aedes aegypti is the primary vector of arthropod-borne viruses and one of the most widespread and invasive mosquito species. Due to the lack of efficient specific drugs or vaccination strategies, vector population ...

    • A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases 

      Xiromerisiou G., Dadouli K., Marogianni C., Provatas A., Ntellas P., Rikos D., Stathis P., Georgouli D., Loules G., Zamanakou M., Hadjigeorgiou G.M. (2020)
      ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ...

    • Polymorphisms of IL12RB2 may affect the natural history of primary biliary cholangitis: A single centre study 

      Wasik U., Wunsch E., Norman G.L., Rigopoulou E.I., Bogdanos D.P., Milkiewicz P., Milkiewicz M. (2017)
      Background. Recent GWAS in primary biliary cholangitis (PBC) showed strong associations with SNPs located within interleukin-12 receptor (IL12R) beta-2 (IL12RB2) gene. Aims.We assessedwhether genetic variation of IL12RB2 ...

    • Prevalence of uncoupling protein one genetic polymorphisms and their relationship with cardiovascular and metabolic health 

      Dinas P.C., Nintou E., Vliora M., Pravednikova A.E., Sakellariou P., Witkowicz A., Kachaev Z.M., Kerchev V.V., Larina S.N., Cotton J., Kowalska A., Gkiata P., Bargiota A., Khachatryan Z.A., Hovhannisyan A.A., Antonosyan M.A., Margaryan S., Partyka A., Bogdanski P., Szulinska M., Kregielska-Narozna M., Czepczyński R., Ruchała M., Tomkiewicz A., Yepiskoposyan L., Karabon L., Shidlovskii Y., Metsios G.S., Flouris A.D. (2022)
      Contribution of UCP1 single nucleotide polymorphisms (SNPs) to susceptibility for cardiometabolic pathologies (CMP) and their involvement in specific risk factors for these conditions varies across populations. We tested ...

    • Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach 

      Paterakis K., Koutsias S., Doxani C., Xanthopoulou P., Kokkali C., Mpoulimari I., Tziastoudi M., Karampelas I., Dardiotis E., Hadjigeorgiou G., Brotis A.G., Zintzaras E. (2017)
      Background: The presence of an intracranial aneurysm (IA) is thought to have a genetic origin. The genetic association studies (GAS) that investigated the association between IA and elastin gene (ELN) variants have produced ...