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Πλοήγηση ανά Θέμα "mutational analysis"

Αποτελέσματα 1-10 από 10

    • 7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case 

      Paspaliaris V., Vrachnis N., Iliodromiti Z., Antonakopoulos N., Papaioannou G., Vlachadis N., Anastasiadou F., Sotiriou S., Garas A., Thomaidis L., Manolakos E. (2017)
      Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In ...

    • Analysis of SOD2 rs4880 Genetic Variant in Patients with Alzheimer’s Disease 

      Siokas V., Stamati P., Pateraki G., Liampas I., Aloizou A.-M., Tsirelis D., Nousia A., Sgantzos M., Nasios G., Bogdanos D.P., Dardiotis E. (2022)
      A few gene loci that contribute to Alzheimer’s Disease (AD) onset have been identified. Few studies have been published about the relationship between SOD2 rs4880 single nucleotide variant and AD, revealing inconsistent ...

    • BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm 

      Siokas V., Kardaras D., Aloizou A.-M., Asproudis I., Boboridis K.G., Papageorgiou E., Hadjigeorgiou G.M., Tsironi E.E., Dardiotis E. (2019)
      A few genetic variants are implicated in the development of blepharospasm (BSP). The precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP remains controversial. The effect of rs6265 on BSP ...

    • Cell migration leads to spatially distinct but clonally related airway cancer precursors 

      Pipinikas, C. P.; Kiropoulos, T. S.; Teixeira, V. H.; Brown, J. M.; Varanou, A.; Falzon, M.; Capitanio, A.; Bottoms, S. E.; Carrol, B.; Navani, N.; McCaughan, F.; George, J. P.; Giangreco, A.; Wright, N. A.; McDonald, S. A. C.; Graham, T. A.; Janes, S. M. (2014)
      Background Squamous cell carcinoma of the lung is a common cancer with 95% mortality at 5 years. These cancers arise from preinvasive lesions, which have a natural history of development progressing through increasing ...

    • 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 ...

    • 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 ...

    • Identification of the four most common beta-globin gene mutations in Greek beta-thalassemic patients and carriers by PCR-SSCP: Advantages and limitations of the method 

      Kakavas, K. V.; Noulas, A.; Chalkias, C.; Hadjichristodoulou, C.; Georgiou, L.; Georgatsou, E.; Bonanou, S. (2006)
      In the present study we investigated whether the single-strand conformational polymorphism (SSCP) method could be employed to identify (rather than simply detect) the four most common beta-globin gene mutations in the Greek ...

    • Mutation profile of KRAS and BRAF genes in patients with colorectal cancer: Association with morphological and prognostic criteria 

      Samara M., Kapatou K., Ioannou M., Kostopoulou Ε., Papamichali R., Papandreou C., Athanasiadis A., Koukoulis G. (2015)
      KRAS and BRAF mutations are well-recognized molecular alterations during colorectal carcinogenesis, but there is little agreement on their effect on tumor characteristics. Therefore, we aimed to evaluate the distribution ...

    • Somatic evolution and global expansion of an ancient transmissible cancer lineage 

      Baez-Ortega A., Gori K., Strakova A., Allen J.L., Allum K.M., Bansse-Issa L., Bhutia T.N., Bisson J.L., Briceño C., Domracheva A.C., Corrigan A.M., Cran H.R., Crawford J.T., Davis E., De Castro K.F., De Nardi A.B., De Vos A.P., Keenan L.D., Donelan E.M., Espinoza Huerta A.R., Faramade I.A., Fazil M., Fotopoulou E., Fruean S.N., Gallardo-Arrieta F., Glebova O., Gouletsou P.G., Häfelin Manrique R.F., Henriques J.J.G.P., Horta R.S., Ignatenko N., Kane Y., King C., Koenig D., Krupa A., Kruzeniski S.J., Kwon Y.-M., Lanza-Perea M., Lazyan M., Lopez Quintana A.M., Losfelt T., Marino G., Castañeda S.M., Martínez-López M.F., Meyer M., Migneco E.J., Nakanwagi B., Neal K.B., Neunzig W., Leathlobhair M.N., Nixon S.J., Ortega-Pacheco A., Pedraza-Ordoñez F., Peleteiro M.C., Polak K., Pye R.J., Reece J.F., Gutierrez J.R., Sadia H., Schmeling S.K., Shamanova O., Sherlock A.G., Stammnitz M., Steenland-Smit A.E., Svitich A., Tapia Martínez L.J., Ngoka I.T., Torres C.G., Tudor E.M., Van Der Wel M.G., Viţălaru B.A., Vural S.A., Walkinton O., Wang J., Wehrle-Martinez A.S., Widdowson S.A.E., Stratton M.R., Alexandrov L.B., Martincorena I., Murchison E.P. (2019)
      The canine transmissible venereal tumor (CTVT) is a cancer lineage that arose several millennia ago and survives by “metastasizing” between hosts through cell transfer. The somatic mutations in this cancer record its ...

    • Thumb duplication: molecular analysis of different clinical types 

      Kyriazis Z., Kollia P., Grivea I., Varitimidis S.E., Constantoulakis P., Dailiana Z.H. (2019)
      Purpose: Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations. Materials and methods: In a series of patients operated for polydactyly, DNA was extracted from blood ...