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Πλοήγηση ανά Θέμα "genetic screening"

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    • The 5′ regulatory region of the human fetal globin genes is a gene conversion hotspot 

      Kalamaras, A.; Chassanidis, C.; Samara, M.; Chiotoglou, I.; Vamvakopoulos, N. K.; Papadakis, M. N.; Kollia, P.; Patrinos, G. P. (2008)
      The human fetal globin genes consist of the first mammalian genomic loci for which gene conversion was reported. To date, 14 gene conversions have been described in the human Gγ- and Aγ-globin genes, the vast majority of ...

    • Ascites in a patient with episodic angio-oedema and eosinophilia: Thinking outside the box 

      Rigopoulou E.I., Ioannou M., Papadamou G., Dalekos G.N. (2017)
      Episodic angio-oedema with eosinophilia (EAE) or Gleich's syndrome is a rare condition characterised by recurrent episodes of oedema and eosinophilia, accompanied by urticaria, fever and weight gain. The presence of ascites ...

    • 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, ...

    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases 

      Xiromerisiou G., Marogianni C., Dadouli K., Zompola C., Georgouli D., Provatas A., Theodorou A., Zervas P., Nikolaidou C., Stergiou S., Ntellas P., Sokratous M., Stathis P., Paraskevas G.P., Bonakis A., Voumvourakis K., Hadjichristodoulou C., Hadjigeorgiou G.M., Tsivgoulis G. (2020)
      Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient.MethodsHere, we ...

    • 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 ...

    • 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 ...

    • Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another? 

      Germenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H. (2021)
      [No abstract available]

    • 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 ...

    • Genetic profiling and volatile oil content of oregano genotypes from greece 

      Papaioannou C., Stefanakis M.K., Batargias C., Kilias G., Anastasopoulos E., Katerinopoulos H.E., Papasotiropoulos V. (2020)
      Several oregano genotypes belonging to Origanum vulgare subsp. hirtum (Link) Ietsw., O. onites L., and O. majorana L., Lamiaceae, from Greece, were genetically and chemically studied. Genetic analysis with microsatellite ...

    • Genetics of Hereditary Angioedema Revisited 

      Germenis A.E., Speletas M. (2016)
      Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ...

    • The greek variant in app gene: The phenotypic spectrum of app mutations 

      Kalampokini S., Georgouli D., Patrikiou E., Provatas A., Valotassiou V., Georgoulias P., Spanaki C., Hadjigeorgiou G.M., Xiromerisiou G. (2021)
      Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric ...

    • Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia 

      Tsantoula, F.; Kioumi, A.; Germenis, A. E.; Speletas, M. (2014)
      A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. ...

    • Intergenic snps in obstructive sleep apnea syndrome: Revealing metabolic, oxidative stress and immune-related pathways 

      Raptis D.G., Vavougios G.D., Siachpazidou D.I., Pastaka C., Xiromerisiou G., Gourgoulianis K.I., Malli F. (2021)
      There is strong evidence supporting the contribution of genetic factors to obstructive sleep apnea syndrome (OSAHS) susceptibility. In the current study we analyzed both in a clinical cohort and in silico, four single ...

    • International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency 

      Farkas H., Martinez-Saguer I., Bork K., Bowen T., Craig T., Frank M., Germenis A.E., Grumach A.S., Luczay A., Varga L., Zanichelli A., HAWK, Aberer W., Andrejevic S., Aygoeren-Pürsün E., Banerji A., Bara N.-A., Bas M., Bernstein J., Betschel S., Björkander J., Boccon-Gibod I., Bouillet L., Bova M., Boysen H.H., Branco-Ferreira M., Bygum A., Caballero T., Cancian M., Castaldo A., Christiansen S., Cicardi M., Drouet C., Fabiani J., Gompels M., Gonzalez-Quevedo M.T., Gooi J., Gower R., Gökmen N.M., Grivcheva-Panovska V., Guilarte M., Gülbahar O., Hack E., Hakl R., Harmat G., Jeseňák M., Jolles S., Kaplan A., Katelaris C., Kosnik M., Kőhalmi K.V., Leibovich I., Levi M., Li H., Longhurst H.J., Lumry W., Magerl M., Malbran A., Martin L., Maurer M., Mihály E., Moldovan D., Murdjeva M., Nagy I.B., Nielsen E.W., Nieto S., Nordenfelt P., Obtulowitzc K., Pedrosa M., Porębski G., Prior N., Reshef A., Riedl M.A., Rosenkranz B., Schmid-Grendelmeier P., Péter S., Speletas M., Staevska M., Stobiecki M., Triggiani M., Veszeli N., Wuillemin W., Xiang Z.Y., Yamamoto B., Zuraw B. (2017)
      Background: The consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric ...

    • 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 ...

    • Non-alcoholic steatohepatitis or autoimmune hepatitis? Sometimes a closer look under the surface is needed 

      Dalekos G.N., Gatselis N.K., Koukoulis G.K. (2020)
      Non-alcoholic fatty liver disease (NAFLD) is nowadays the most common liver disease worldwide. Autoimmune hepatitis (AIH) is a relatively rare disease of the liver characterised by female predominance, circulating ...

    • 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 ...

    • Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS 

      Sokratous M., Lucia S., Bourinaris T., Marogianni C., Arnaoutoglou M., Patrikiou E., Ralli S., Markou A., Dardiotis E., Houlden H., Hadjigeorgiou G.M., Xiromerisiou G. (2020)
      A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was ...

    • Replication study of GWAS risk loci in Greek multiple sclerosis patients 

      Hadjigeorgiou G.M., Kountra P.-M., Koutsis G., Tsimourtou V., Siokas V., Dardioti M., Rikos D., Marogianni C., Aloizou A.-M., Karadima G., Ralli S., Grigoriadis N., Bogdanos D., Panas M., Dardiotis E. (2019)
      Objectives: To validate in an ethnically homogeneous Greek multiple sclerosis (MS) cohort, genetic risk factors for the disease, identified through a number of previous multi-ethnic genome-wide association studies (GWAS). ...

    • 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 ...