Όλο το DSpace

Πλοήγηση ανά Θέμα "DNA Mutational Analysis"

Αποτελέσματα 1-6 από 6

    • 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 ...

    • Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance? 

      Papadimitriou, A.; Veletza, V.; Hadjigeorgiou, G. M.; Patrikiou, A.; Hirano, M.; Anastasopoulos, I. (1999)
      The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ...

    • 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 ...

    • Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration 

      Ratnapriya, R.; Zhan, X.; Fariss, R. N.; Branham, K. E.; Zipprer, D.; Chakarova, C. F.; Sergeev, Y. V.; Campos, M. M.; Othman, M.; Friedman, J. S.; Maminishkis, A.; Waseem, N. H.; Brooks, M.; Rajasimha, H. K.; Edwards, A. O.; Lotery, A.; Klein, B. E.; Truitt, B. J.; Li, B.; Schaumberg, D. A.; Morgan, D. J.; Morrison, M. A.; Souied, E.; Tsironi, E. E.; Grassmann, F.; Fishman, G. A.; Silvestri, G.; Scholl, H. P. N.; Kim, I. K.; Ramke, J.; Tuo, J.; Merriam, J. E.; Merriam, J. C.; Park, K. H.; Olson, L. M.; Farrer, L. A.; Johnson, M. P.; Peachey, N. S.; Lathrop, M.; Baron, R. V.; Igo, R. P.; Klein, R.; Hagstrom, S. A.; Kamatani, Y.; Martin, T. M.; Jiang, Y.; Conley, Y.; Sahel, J. A.; Zack, D. J.; Chan, C. C.; Pericak-Vance, M. A.; Jacobson, S. G.; Gorin, M. B.; Klein, M. L.; Allikmets, R.; Iyengar, S. K.; Weber, B. H.; Haines, J. L.; Léveillard, T.; Deangelis, M. M.; Stambolian, D.; Weeks, D. E.; Bhattacharya, S. E.; Chew, E. Y.; Heckenlively, J. R.; Abecasis, G. R.; Swaroop, A. (2014)
      Neurodegenerative diseases affecting the macula constitute amajor cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial lateonset ...

    • 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 ...

    • TP53 mutations and protein immunopositivity may predict for poor outcome but also for trastuzumab benefit in patients with early breast cancer treated in the adjuvant setting 

      Fountzilas G., Giannoulatou E., Alexopoulou Z., Zagouri F., Timotheadou E., Papadopoulou K., Lakis S., Bobos M., Poulios C., Sotiropoulou M., Lyberopoulou A., Gogas H., Pentheroudakis G., Pectasides D., Koutras A., Christodoulou C., Papandreou C., Samantas E., Papakostas P., Kosmidis P., Bafaloukos D., Karanikiotis C., Dimopoulos M.-A., Kotoula V. (2016)
      Background: We investigated the impact of PIK3CA and TP53 mutations and p53 protein status on the outcome of patients who had been treated with adjuvant anthracycline-taxane chemotherapy within clinical trials in the pre- ...