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Listar por tema "Sanger sequencing"

Mostrando ítems 1-11 de 11

    • Aspects of hereditary angioedema genotyping in the era of NGS: The case of F12 gene [Wybrane aspekty genotypowania wrodzonego obrzȩku naczynioruchowego w erze NGS: Gen F12] 

      Vatsiou S., Zamanakou M., Loules G., González-Quevedo T., Porȩbski G., Juchacz A., Bova M., Suffritti C., Firinu D., Csuka D., Manousakis E., Valerieva A., Staevska M., Magerl M., Farkas H., Germenis A.E. (2018)
      Objective. To screen a cohort of patients diagnosed with non-FXII angioedema for carriage of variants of F12 gene. Material and methods. DNA samples from 191 patients suffering from primary angioedema with normal C1-INH, ...

    • 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, ...

    • Deciphering the genetics of primary angioedema with normal levels of C1 inhibitor 

      Loules G., Parsopoulou F., Zamanakou M., Csuka D., Bova M., González-Quevedo T., Psarros F., Porebski G., Speletas M., Firinu D., del Giacco S., Suffritti C., Makris M., Vatsiou S., Zanichelli A., Farkas H., Germenis A.E. (2020)
      The genetic alteration underlying the great majority of primary angioedema with normal C1 inhibitor (nl-C1-INH-HAE) cases remains unknown. To search for variants associated with nl-C1-INH-HAE, we genotyped 133 unrelated ...

    • The fate of BRCA1-related germline mutations in triple-negative breast tumors 

      Kotoula V., Fostira F., Papadopoulou K., Apostolou P., Tsolaki E., Lazaridis G., Manoussou K., Zagouri F., Pectasides D., Vlachos I., Tikas I., Lakis S., Konstantopoulou I., Pentheroudakis G., Gogas H., Papakostas P., Christodoulou C., Bafaloukos D., Razis E., Karavasilis V., Bamias C., Yannoukakos D., Fountzilas G. (2017)
      The preservation of pathogenic BRCA1/2 germline mutations in tumor tissues is usually not questioned, while it remains unknown whether these interact with somatic genotypes for patient outcome. Herein we compared germline ...

    • 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 ...

    • Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases 

      Marogianni C., Georgouli D., Dadouli K., Ntellas P., Rikos D., Hadjigeorgiou G.M., Spanaki C., Xiromerisiou G. (2021)
      Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ...

    • Microorganisms involved in deep neck infection (DNIs) in Greece: Detection, identification and susceptibility to antimicrobials 

      Beka D., Lachanas V.A., Doumas S., Xytsas S., Kanatas A., Petinaki E., Skoulakis C. (2019)
      Background: To determine, from October 2010 to October 2018, the epidemiology of Deep Neck Infections (DNIs), regarding the detection, the identification and the susceptibility to antimicrobials of causative microorganisms, ...

    • Mitogenomic analysis in European brown hare (Lepus europaeus) proposes genetic and functional differentiation between the distinct lineages 

      Giannoulis T., Stamatis C., Tsipourlianos A., Mamuris Z. (2018)
      European brown hare is a small game species spreading across Europe to Asia Minor, with important economic traits. Population genetics studies using mitochondrial DNA markers have revealed the existence of two major ...

    • A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency 

      Vatsiou S., Zamanakou M., Loules G., Psarros F., Parsopoulou F., Csuka D., Valerieva A., Staevska M., Porebski G., Obtulowicz K., Magerl M., Maurer M., Speletas M., Farkas H., Germenis A.E. (2020)
      Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of ...

    • SLC2A3 rs12842 polymorphism and risk for Alzheimer’s disease 

      Arseniou S., Siokas V., Aloizou A.-M., Stamati P., Mentis A.-F.A., Tsouris Z., Dastamani M., Peristeri E., Valotassiou V., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2020)
      Background: Many studies support the hypothesis that brain glucose dysregulation contributes to neurodegeneration and disease progression. The SLC2A3 gene encodes the Neuronal Glucose Transporter 3 (GLUT3), a critical ...

    • SORL1 mutation in a Greek family with Parkinson's disease and dementia 

      Xiromerisiou G., Bourinaris T., Houlden H., Lewis P.A., Senkevich K., Hammer M., Federoff M., Khan A., Spanaki C., Hadjigeorgiou G.M., Bonstanjopoulou S., Fidani L., Ermolaev A., Gan-Or Z., Singleton A., Vandrovcova J., Hardy J. (2021)
      Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia ...