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Search Results: 1 - 10 of 194 matches for " Markos Mihalatos "
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Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients
Markos Mihalatos, Angela Apessos, Hans Dauwerse, Voula Velissariou, Aristidis Psychias, Alexander Koliopanos, Konstantinos Petropoulos, John K Triantafillidis, Ioannis Danielidis, George Fountzilas, Niki J Agnantis, Georgios Nasioulas
BMC Cancer , 2005, DOI: 10.1186/1471-2407-5-40
Abstract: In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography), sequencing, MLPA (Multiplex Ligation – dependent Probe Amplification), Karyotyping, FISH (Fluorescence In Situ Hybridization) and RT-PCR (Reverse Transcription – Polymerase Chain Reaction).A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA) and a nonsense mutation (C1690T) were identified in the rest of the patients.Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations.Germline mutations in the APC gene are the causative factor for the Familial Adenomatous Polyposis syndrome which follows an autosomal dominant inheritance pattern [1,2]. FAP patients develop multiple to thousands of colonic polyps before their second decade of life.If polyps are left untreated they give rise to colorectal cancer in almost all cases. The syndrome has two forms, one referred to as classic FAP and one milder form referred to as attenuated FAP (AFAP) [3]. Most FAP patients develop certain extracolonic features [3,4]. Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) is present in the majority of FAP patients. Nearly 94% of APC germline mutations lead to a truncated protein product. Thirty three percent of APC mutations represent nonsense point mutations, 6% small insertions and 55% small deletions [5].Recently, a number of studies have demonstrated the presence of less common APC mutations in FAP patients,
Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer
Ioulia Belogianni, Angela Apessos, Markos Mihalatos, Evangelia Razi, Stefanos Labropoulos, Andreas Petounis, Vasiliki Gaki, Antonios Keramopoulos, Nikos Pandis, Kyriacos Kyriacou, Andreas Hadjisavvas, Paris Kosmidis, Drakoulis Yannoukakos, Georgios Nasioulas
BMC Cancer , 2004, DOI: 10.1186/1471-2407-4-61
Abstract: The approach used is based on dHPLC mutation screening of the BRCA1 gene, followed by sequencing of fragments suspected to carry a mutation including intron – exon boundaries. In patients with a strong family history but for whom no mutations were detected, analysis was extended to exons 10 and 11 of the BRCA2 gene, followed by MLPA analysis for screening for large genomic rearrangements.A pathogenic mutation in BRCA1 was identified in 5/18 (27.7 %) families, where four distinct mutations have been observed. Single base putative pathogenic mutations were identified by dHPLC and confirmed by sequence analysis in 4 families: 5382insC (in two families), G1738R, and 5586G > A (in one family each). In addition, 18 unclassified variants and silent polymorphisms were detected including a novel silent polymorphism in exon 11 of the BRCA1 gene. Finally, MLPA revealed deletion of exon 20 of the BRCA1 gene in one family, a deletion that encompasses 3.2 kb of the gene starting 21 bases into exon 20 and extending 3.2 kb into intron 20 and leads to skipping of the entire exon 20. The 3' breakpoint lies within an AluSp repeat but there are no recognizable repeat motifs at the 5' breakpoint implicating a mechanism different to Alu-mediated recombination, responsible for the majority of rearrangements in the BRCA1 gene.We conclude that a combination of techniques capable of detecting both single base mutations and small insertions / deletions and large genomic rearrangements is necessary in order to accurately analyze the BRCA1 gene in patients at high risk of carrying a germline mutation as determined by their family history. Furthermore, our results suggest that in those families with strong evidence of linkage to the BRCA1 locus in whom no point mutation has been identified re-examination should be carried out searching specifically for genomic rearrangements.Germ line mutations in the BRCA1 and BRCA2 genes predispose individuals to breast and ovarian cancer. The lifetime risk of
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr, Michael B Petersen
Molecular Cytogenetics , 2008, DOI: 10.1186/1755-8166-1-24
Abstract: Cases involving partial deletions or duplications of chromosome 18 are well documented in the literature. The 18q- syndrome constitutes one of the frequent autosomal deletion syndromes in man, with more than 100 patients reported [1]. The syndrome includes moderate intrauterine growth retardation, moderate mental retardation, and a specific pattern of dysmorphisms and anomalies [1]. Mosaicism for a deleted chromosome 18 has been described in a few patients with mostly the full clinical picture of the 18q- syndrome. Here, we report a patient with an unusual mosaic karyotype consisting of cells with normal karyotype and others with a terminal deletion of one chromosome 18 and the other chromosome 18 having an interstitial duplication.The patient, a 7-year-old boy, was the second child of unrelated, healthy parents. He was born with cesarean section after a full term pregnancy. His birth weight was 2,850 kg, length 45 cm and head circumference (HC) 32 cm. His perinatal period was uneventful. His developmental milestones were delayed as he sat independently at the age of 13 months and walked at the age of 27 months. His first words were spoken at the age of 2 years and 5 months.He was a sociable child, with microcephaly (HC = 50.5 cm, 2nd percentile), and dysmorphic facial features such as: maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures, long eyelashes, and hypertelorism. His ears were prominent and dysmorphic and he had a high arched palate. His weight was 17 kg (25th percentile) and his height 120 cm (50th percentile).His non-verbal skills were equivalent to a 4 years and 4 months level and his language skills were equivalent to a 30 months level. According to Griffiths Scales Bailey's Scales of Mental Development (2nd Edition), his General Developmental Quotient (GDQ) was 52 with Performance DQ = 59 and Language DQ = 45. His behavior was normal for his developmental age. He was severely hypertonic but without asymmetry.Heart auscultation was no
Subset Multiple Correspondence Analysis as a Tool for Visualizing Affiliation Networks  [PDF]
Achilles Dramalidis, Angelos Markos
Journal of Data Analysis and Information Processing (JDAIP) , 2016, DOI: 10.4236/jdaip.2016.42007
Abstract: In this paper we investigate the potential of Subset Multiple Correspondence Analysis (s-MCA), a variant of MCA, to visually explore two-mode networks. We discuss how s-MCA can be useful to focus the analysis on interesting subsets of events in an affiliation network while preserving the properties of the analysis of the complete network. This unique characteristic of the method is also particularly relevant to address the problem of missing data, where it can be used to partial out their influence and reveal the more substantive relational patterns. Similar to ordinary MCA, s- MCA can also alleviate the problem of overcrowded visualizations and can effectively identify associations between observed relational patterns and exogenous variables. All of these properties are illustrated on a student course-taking affiliation network.
Waking Life: The Destiny of Cinema’s Dreamscape; or the Question of Old and New Mediations
Markos Hadjioannou
Excursions , 2010,
Abstract: In light of the current transition from celluloid to digital cinema, this paper will explore the relation between old and new technologies as a means for understanding medium specificity as an activity of mediation. While the ongoing debate in screen studies aims at clarifying the extent of digital technology’s effects, it seems that the new technology is either being interpreted as inducing a rupture in film history clearly distinct from celluloid, or as directly repeating strategies, goals, forms, and impulses specific to an indexical and analogical visual culture. Indeed, the desire to acknowledge points of divergence or close interaction between technological forms is unquestionably useful; but my own approach to the technological change takes into account both the differences and similarities of forms as a means of exploring medium specificity. This will be a matter of dealing with the new as not new or old, but new and old – as simultaneously distinct and interactively interrelated, so that each medium acquires a space of its own without fixed boundaries. Rather than merge the one form into the other, the ontological explication of a medium may take account of its specific technological base while simultaneously paying attention to previous technologies that reside in it intact yet affected by the contextual possibilities of the new. Newness, thus understood, becomes a complex concurrency of differences and similarities that shift the borders of distinct forms in unexpected and continually renewable ways. With this in mind, I will discuss an example of digital mediation through Richard Linklater’s Waking Life (2001), with a focus on the digital’s power for a creative interpretation of reality’s experience.
Probability distribution of the conductance at the mobility edge
Peter Markos
Physics , 1999, DOI: 10.1103/PhysRevLett.83.588
Abstract: Distribution of the conductance P(g) at the critical point of the metal-insulator transition is presented for three and four dimensional orthogonal systems. The form of the distribution is discussed. Dimension dependence of P(g) is proven. The limiting cases $g\to\infty$ and $g\to 0$ are discussed in detail and relation $P(g)\to 0$ in the limit $g\to 0$ is proven.
Electron transport in strongly disordered structures
P. Markos
Physics , 2009, DOI: 10.1016/j.physb.2010.01.042
Abstract: Using the transfer matrix technique, we investigate the propagation of electron through a two dimensional disordered sample. We find that the spatial distribution of electrons is homogeneous only in the limit of weak disorder (diffusive transport regime). In the limit of very strong disorder, we identify a narrow channel through which the electron propagates from one side of the sample to the opposite side. Even in this limit, we prove the wave character of the electron propagation.
Two-dimensional electron systems beyond the diffusive regime
P. Markos
Physics , 2010, DOI: 10.1103/PhysRevB82.094203
Abstract: Transport properties of disordered electron system can be characterized by the conductance, Lyapunov exponent, or level spacing. Two additional parameters, $K_{11}$ and $\gamma $ were introduced recently which measure the non-homogeneity of the spatial distribution of the electron inside the sample. % [Phys. Rev. Lett. {\bf 82}, 4272 (1999)]. For the orthogonal, unitary and symplectic two dimensional disordered models, we investigate numerically the system size dependence of these parameters in the diffusive and localized regime. Obtained size and disorder dependence of $K_{11}$ and $\gamma$ is in agreement with with single parameter transport theory. In the localized regime, $\gamma\to 0$ independently on the physical symmetry of the model. In the diffusive regime, $\gamma$ equals to the symmetry parameter $\beta$. For the symplectic model we analyze the size dependence of $\gamma$ in the critical region of the metal-insulator transition and found the non-universal critical value $\gamma_c$.
Absence of diffusion in certain random lattices: Numerical evidence
Peter Markos
Physics , 2008,
Abstract: We demonstrate, by solving numerically the time-dependent Schroedinger equation, the physical character of electron localization in a disordered two-dimensional lattice. We show, in agreement with the prediction of P. W. Anderson, that the disorder prevents electron diffusion. The electron becomes spatially localized in a specific area of the system. Our numerical analysis confirms that the electron localization is a quantum effect caused by the wave character of electron propagation and has no analogy in classical mechanics.
Comment on the paper I. M. Suslov: Finite Size Scaling from the Self Consistent Theory of Localization
Peter Markos
Physics , 2012, DOI: 10.1134/S1063776112130067
Abstract: In the recent paper [I.M.Suslov, JETP {\bf 114} (2012) 107] a new scaling theory of electron localization was proposed. We show that numerical data for the quasi-one dimensional Anderson model do not support predictions of this theory.
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