The Experts below are selected from a list of 243822 Experts worldwide ranked by ideXlab platform
Svetlana G Vorsanova - One of the best experts on this subject based on the ideXlab platform.
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in silico molecular Cytogenetics a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research
Molecular Cytogenetics, 2014Co-Authors: Ivan Y Iourov, Svetlana G Vorsanova, Yuri B. YurovAbstract:Background The availability of multiple in silico tools for prioritizing genetic variants widens the possibilities for converting genomic data into biological knowledge. However, in molecular Cytogenetics, bioinformatic analyses are generally limited to result visualization or database mining for finding similar cytogenetic data. Obviously, the potential of bioinformatics might go beyond these applications. On the other hand, the requirements for performing successful in silico analyses (i.e. deep knowledge of computer science, statistics etc.) can hinder the implementation of bioinformatics in clinical and basic molecular cytogenetic research. Here, we propose a bioinformatic approach to prioritization of genomic variations that is able to solve these problems.
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Introduction to Interphase Molecular Cytogenetics
Human Interphase Chromosomes, 2013Co-Authors: Yuri B. Yurov, Svetlana G Vorsanova, Ivan Y IourovAbstract:The history of interphase Cytogenetics can be traced back to the pioneering works on descriptions of intracellular compartments dated at the end of the nineteenth century. However, it was not until the development of molecular cytogenetic techniques that the direct analysis of human interphase chromosomes began. During the past three decades, tremendous efforts have been made toward the elucidation of how the cellular genome is organized at molecular and supramolecular (chromatin and chromosomal) levels. As a result, we do possess powerful molecular cytogenetic technologies for diagnosing chromosome abnormalities in interphase and studying chromosome number, structure, and behavior variations in single cells at molecular resolutions through the entire cell cycle. Using several seminal reviews as milestones, it was possible to show the development of interphase (molecular) Cytogenetics in historical perspective. As one can notice, the main achievements in studying interphase chromosomes were made because of technological developments in molecular Cytogenetics. Therefore, the present introduction to interphase molecular Cytogenetics is not only limited to listing changing of concepts in studying interphase chromosomal architecture and molecular cytogenetic diagnosis, but also briefly describes the technological basis of this dynamically developing biomedical field.
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Technological Solutions in Human Interphase Cytogenetics
Human Interphase Chromosomes, 2013Co-Authors: Svetlana G Vorsanova, Yuri B. Yurov, Ivan Y IourovAbstract:Numerous interphase molecular cytogenetic approaches are useful for the analysis of chromosomes in normal and abnormal human cells. Interphase fluorescence in situ hybridization techniques offer unique possibilities to visualize individual chromosomes or chromosomal regions in single nondividing cells isolated from any given tissue. Despite technological difficulties encountered during studying human interphase chromosomes in health and disease, molecular Cytogenetics or cytogenomics (“chromosomics”) does provide solutions for high-resolution single-cell analysis of genome organization, structure, and behavior at all stages of the cell cycle. However, usually relatively little attention is paid to interphase molecular Cytogenetics in current biomedical literature. Looking through the voluminous amount of original research papers and reviews dedicated to human interphase chromosomes, one can conclude that the technological aspects of studying human interphase chromosomes applied to basic and clinical research are rarely addressed. In an attempt to fill this gap, the present chapter provides a description of technological solutions in human interphase Cytogenetics.
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Human interphase chromosomes: a review of available molecular cytogenetic technologies
Molecular Cytogenetics, 2010Co-Authors: Svetlana G Vorsanova, Yuri B. Yurov, Ivan Y IourovAbstract:Human karyotype is usually studied by classical cytogenetic (banding) techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the cell types, to moderate cell scoring, and to the extrapolation of cytogenetic data retrieved from a couple of tens of mitotic cells to the whole organism, suggesting that all the remaining cells possess these genomes. However, this is far from being the case inasmuch as chromosome abnormalities can occur in any cell along ontogeny. Since somatic cells of eukaryotes are more likely to be in interphase, the solution of the problem concerning studying postmitotic cells and larger cell populations is interphase Cytogenetics, which has become more or less applicable for specific biomedical tasks due to achievements in molecular Cytogenetics (i.e. developments of fluorescence in situ hybridization -- FISH, and multicolor banding -- MCB). Numerous interphase molecular cytogenetic approaches are restricted to studying specific genomic loci (regions) being, however, useful for identification of chromosome abnormalities (aneuploidy, polyploidy, deletions, inversions, duplications, translocations). Moreover, these techniques are the unique possibility to establish biological role and patterns of nuclear genome organization at suprachromosomal level in a given cell. Here, it is to note that this issue is incompletely worked out due to technical limitations. Nonetheless, a number of state-of-the-art molecular cytogenetic techniques (i.e multicolor interphase FISH or interpahase chromosome-specific MCB) allow visualization of interphase chromosomes in their integrity at molecular resolutions. Thus, regardless numerous difficulties encountered during studying human interphase chromosomes, molecular Cytogenetics does provide for high-resolution single-cell analysis of genome organization, structure and behavior at all stages of cell cycle.
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a new open access journal for a rapidly evolving biomedical field introducing molecular Cytogenetics
Molecular Cytogenetics, 2008Co-Authors: Yuri B. Yurov, Lisa G. Shaffer, Ivan Y Iourov, Thomas Liehr, Svetlana G VorsanovaAbstract:Editorial - Introducing a new journal: Molecular Cytogenetics. An open access source for research concerning molecular cytogenetic techniques.
Yuri B. Yurov - One of the best experts on this subject based on the ideXlab platform.
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in silico molecular Cytogenetics a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research
Molecular Cytogenetics, 2014Co-Authors: Ivan Y Iourov, Svetlana G Vorsanova, Yuri B. YurovAbstract:Background The availability of multiple in silico tools for prioritizing genetic variants widens the possibilities for converting genomic data into biological knowledge. However, in molecular Cytogenetics, bioinformatic analyses are generally limited to result visualization or database mining for finding similar cytogenetic data. Obviously, the potential of bioinformatics might go beyond these applications. On the other hand, the requirements for performing successful in silico analyses (i.e. deep knowledge of computer science, statistics etc.) can hinder the implementation of bioinformatics in clinical and basic molecular cytogenetic research. Here, we propose a bioinformatic approach to prioritization of genomic variations that is able to solve these problems.
-
Introduction to Interphase Molecular Cytogenetics
Human Interphase Chromosomes, 2013Co-Authors: Yuri B. Yurov, Svetlana G Vorsanova, Ivan Y IourovAbstract:The history of interphase Cytogenetics can be traced back to the pioneering works on descriptions of intracellular compartments dated at the end of the nineteenth century. However, it was not until the development of molecular cytogenetic techniques that the direct analysis of human interphase chromosomes began. During the past three decades, tremendous efforts have been made toward the elucidation of how the cellular genome is organized at molecular and supramolecular (chromatin and chromosomal) levels. As a result, we do possess powerful molecular cytogenetic technologies for diagnosing chromosome abnormalities in interphase and studying chromosome number, structure, and behavior variations in single cells at molecular resolutions through the entire cell cycle. Using several seminal reviews as milestones, it was possible to show the development of interphase (molecular) Cytogenetics in historical perspective. As one can notice, the main achievements in studying interphase chromosomes were made because of technological developments in molecular Cytogenetics. Therefore, the present introduction to interphase molecular Cytogenetics is not only limited to listing changing of concepts in studying interphase chromosomal architecture and molecular cytogenetic diagnosis, but also briefly describes the technological basis of this dynamically developing biomedical field.
-
Technological Solutions in Human Interphase Cytogenetics
Human Interphase Chromosomes, 2013Co-Authors: Svetlana G Vorsanova, Yuri B. Yurov, Ivan Y IourovAbstract:Numerous interphase molecular cytogenetic approaches are useful for the analysis of chromosomes in normal and abnormal human cells. Interphase fluorescence in situ hybridization techniques offer unique possibilities to visualize individual chromosomes or chromosomal regions in single nondividing cells isolated from any given tissue. Despite technological difficulties encountered during studying human interphase chromosomes in health and disease, molecular Cytogenetics or cytogenomics (“chromosomics”) does provide solutions for high-resolution single-cell analysis of genome organization, structure, and behavior at all stages of the cell cycle. However, usually relatively little attention is paid to interphase molecular Cytogenetics in current biomedical literature. Looking through the voluminous amount of original research papers and reviews dedicated to human interphase chromosomes, one can conclude that the technological aspects of studying human interphase chromosomes applied to basic and clinical research are rarely addressed. In an attempt to fill this gap, the present chapter provides a description of technological solutions in human interphase Cytogenetics.
-
Human interphase chromosomes: a review of available molecular cytogenetic technologies
Molecular Cytogenetics, 2010Co-Authors: Svetlana G Vorsanova, Yuri B. Yurov, Ivan Y IourovAbstract:Human karyotype is usually studied by classical cytogenetic (banding) techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the cell types, to moderate cell scoring, and to the extrapolation of cytogenetic data retrieved from a couple of tens of mitotic cells to the whole organism, suggesting that all the remaining cells possess these genomes. However, this is far from being the case inasmuch as chromosome abnormalities can occur in any cell along ontogeny. Since somatic cells of eukaryotes are more likely to be in interphase, the solution of the problem concerning studying postmitotic cells and larger cell populations is interphase Cytogenetics, which has become more or less applicable for specific biomedical tasks due to achievements in molecular Cytogenetics (i.e. developments of fluorescence in situ hybridization -- FISH, and multicolor banding -- MCB). Numerous interphase molecular cytogenetic approaches are restricted to studying specific genomic loci (regions) being, however, useful for identification of chromosome abnormalities (aneuploidy, polyploidy, deletions, inversions, duplications, translocations). Moreover, these techniques are the unique possibility to establish biological role and patterns of nuclear genome organization at suprachromosomal level in a given cell. Here, it is to note that this issue is incompletely worked out due to technical limitations. Nonetheless, a number of state-of-the-art molecular cytogenetic techniques (i.e multicolor interphase FISH or interpahase chromosome-specific MCB) allow visualization of interphase chromosomes in their integrity at molecular resolutions. Thus, regardless numerous difficulties encountered during studying human interphase chromosomes, molecular Cytogenetics does provide for high-resolution single-cell analysis of genome organization, structure and behavior at all stages of cell cycle.
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a new open access journal for a rapidly evolving biomedical field introducing molecular Cytogenetics
Molecular Cytogenetics, 2008Co-Authors: Yuri B. Yurov, Lisa G. Shaffer, Ivan Y Iourov, Thomas Liehr, Svetlana G VorsanovaAbstract:Editorial - Introducing a new journal: Molecular Cytogenetics. An open access source for research concerning molecular cytogenetic techniques.
Ivan Y Iourov - One of the best experts on this subject based on the ideXlab platform.
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in silico molecular Cytogenetics a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research
Molecular Cytogenetics, 2014Co-Authors: Ivan Y Iourov, Svetlana G Vorsanova, Yuri B. YurovAbstract:Background The availability of multiple in silico tools for prioritizing genetic variants widens the possibilities for converting genomic data into biological knowledge. However, in molecular Cytogenetics, bioinformatic analyses are generally limited to result visualization or database mining for finding similar cytogenetic data. Obviously, the potential of bioinformatics might go beyond these applications. On the other hand, the requirements for performing successful in silico analyses (i.e. deep knowledge of computer science, statistics etc.) can hinder the implementation of bioinformatics in clinical and basic molecular cytogenetic research. Here, we propose a bioinformatic approach to prioritization of genomic variations that is able to solve these problems.
-
Introduction to Interphase Molecular Cytogenetics
Human Interphase Chromosomes, 2013Co-Authors: Yuri B. Yurov, Svetlana G Vorsanova, Ivan Y IourovAbstract:The history of interphase Cytogenetics can be traced back to the pioneering works on descriptions of intracellular compartments dated at the end of the nineteenth century. However, it was not until the development of molecular cytogenetic techniques that the direct analysis of human interphase chromosomes began. During the past three decades, tremendous efforts have been made toward the elucidation of how the cellular genome is organized at molecular and supramolecular (chromatin and chromosomal) levels. As a result, we do possess powerful molecular cytogenetic technologies for diagnosing chromosome abnormalities in interphase and studying chromosome number, structure, and behavior variations in single cells at molecular resolutions through the entire cell cycle. Using several seminal reviews as milestones, it was possible to show the development of interphase (molecular) Cytogenetics in historical perspective. As one can notice, the main achievements in studying interphase chromosomes were made because of technological developments in molecular Cytogenetics. Therefore, the present introduction to interphase molecular Cytogenetics is not only limited to listing changing of concepts in studying interphase chromosomal architecture and molecular cytogenetic diagnosis, but also briefly describes the technological basis of this dynamically developing biomedical field.
-
Technological Solutions in Human Interphase Cytogenetics
Human Interphase Chromosomes, 2013Co-Authors: Svetlana G Vorsanova, Yuri B. Yurov, Ivan Y IourovAbstract:Numerous interphase molecular cytogenetic approaches are useful for the analysis of chromosomes in normal and abnormal human cells. Interphase fluorescence in situ hybridization techniques offer unique possibilities to visualize individual chromosomes or chromosomal regions in single nondividing cells isolated from any given tissue. Despite technological difficulties encountered during studying human interphase chromosomes in health and disease, molecular Cytogenetics or cytogenomics (“chromosomics”) does provide solutions for high-resolution single-cell analysis of genome organization, structure, and behavior at all stages of the cell cycle. However, usually relatively little attention is paid to interphase molecular Cytogenetics in current biomedical literature. Looking through the voluminous amount of original research papers and reviews dedicated to human interphase chromosomes, one can conclude that the technological aspects of studying human interphase chromosomes applied to basic and clinical research are rarely addressed. In an attempt to fill this gap, the present chapter provides a description of technological solutions in human interphase Cytogenetics.
-
Human interphase chromosomes: a review of available molecular cytogenetic technologies
Molecular Cytogenetics, 2010Co-Authors: Svetlana G Vorsanova, Yuri B. Yurov, Ivan Y IourovAbstract:Human karyotype is usually studied by classical cytogenetic (banding) techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the cell types, to moderate cell scoring, and to the extrapolation of cytogenetic data retrieved from a couple of tens of mitotic cells to the whole organism, suggesting that all the remaining cells possess these genomes. However, this is far from being the case inasmuch as chromosome abnormalities can occur in any cell along ontogeny. Since somatic cells of eukaryotes are more likely to be in interphase, the solution of the problem concerning studying postmitotic cells and larger cell populations is interphase Cytogenetics, which has become more or less applicable for specific biomedical tasks due to achievements in molecular Cytogenetics (i.e. developments of fluorescence in situ hybridization -- FISH, and multicolor banding -- MCB). Numerous interphase molecular cytogenetic approaches are restricted to studying specific genomic loci (regions) being, however, useful for identification of chromosome abnormalities (aneuploidy, polyploidy, deletions, inversions, duplications, translocations). Moreover, these techniques are the unique possibility to establish biological role and patterns of nuclear genome organization at suprachromosomal level in a given cell. Here, it is to note that this issue is incompletely worked out due to technical limitations. Nonetheless, a number of state-of-the-art molecular cytogenetic techniques (i.e multicolor interphase FISH or interpahase chromosome-specific MCB) allow visualization of interphase chromosomes in their integrity at molecular resolutions. Thus, regardless numerous difficulties encountered during studying human interphase chromosomes, molecular Cytogenetics does provide for high-resolution single-cell analysis of genome organization, structure and behavior at all stages of cell cycle.
-
a new open access journal for a rapidly evolving biomedical field introducing molecular Cytogenetics
Molecular Cytogenetics, 2008Co-Authors: Yuri B. Yurov, Lisa G. Shaffer, Ivan Y Iourov, Thomas Liehr, Svetlana G VorsanovaAbstract:Editorial - Introducing a new journal: Molecular Cytogenetics. An open access source for research concerning molecular cytogenetic techniques.
Evangelos Eleutherakispapaiakovou - One of the best experts on this subject based on the ideXlab platform.
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diffuse pattern of bone marrow involvement on magnetic resonance imaging is associated with high risk Cytogenetics and poor outcome in newly diagnosed symptomatic patients with multiple myeloma a single center experience on 228 patients
American Journal of Hematology, 2012Co-Authors: Lia A Moulopoulos, Meletios A Dimopoulos, Efstathios Kastritis, Dimitrios Christoulas, Maria Gkotzamanidou, Maria Roussou, Andreas Koureas, Magdalini Migkou, Maria Gavriatopoulou, Evangelos EleutherakispapaiakovouAbstract:Magnetic Resonance Imaging (MRI) and specific cytogenetic abnormalities offer important prognostic information for myeloma patients. However, limited data are available about the association between cytogenetic abnormalities and MRI patterns of marrow infiltration. To address this issue, we analyzed 228 consecutive newly diagnosed, symptomatic patients who were diagnosed and treated in a single center. On bone marrow MR images, 95 (41%) patients had diffuse, 94 (41%) had focal, 35 (15%) were normal, and 4 (1.7%) patients had variegated pattern of marrow infiltration. High risk Cytogenetics were more commonly observed with diffuse MRI pattern (50% vs. 31% in focal and normal patterns). Patients with diffuse MRI pattern had poorer survival compared to others and responded better to novel agent-based therapies than to conventional chemotherapy (objective response: 88% vs. 46%, P < 0.001). There was a significant improvement of patients' survival with a diffuse MRI pattern when treated upfront with novel agents compared to conventional chemotherapy (47 vs. 24 months; P < 0.001). Diffuse MRI pattern along with ISS-3 and high risk Cytogenetics could identify a very high risk group of patients with extremely poor median survival (21 months) and an only 35% probability of 3-year OS. Our study shows that symptomatic myeloma patients with a diffuse MRI pattern at diagnosis very often show high risk cytogenetic abnormalities and are benefiting from upfront novel agent-based therapies. Diffuse MRI pattern in combination with high risk Cytogenetics and ISS-3 can identify a subset of myeloma patients with very poor prognosis who may need innovative treatment strategies and possibly more aggressive therapies.
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diffuse pattern of bone marrow involvement on magnetic resonance imaging is associated with high risk Cytogenetics and poor outcome in newly diagnosed symptomatic patients with multiple myeloma a single center experience on 228 patients
American Journal of Hematology, 2012Co-Authors: Lia A Moulopoulos, Meletios A Dimopoulos, Efstathios Kastritis, Dimitrios Christoulas, Maria Gkotzamanidou, Maria Roussou, Andreas Koureas, Magdalini Migkou, Maria Gavriatopoulou, Evangelos EleutherakispapaiakovouAbstract:Magnetic Resonance Imaging (MRI) and specific cytogenetic abnormalities offer important prognostic information for myeloma patients. However, limited data are available about the association between cytogenetic abnormalities and MRI patterns of marrow infiltration. To address this issue, we analyzed 228 consecutive newly diagnosed, symptomatic patients who were diagnosed and treated in a single center. On bone marrow MR images, 95 (41%) patients had diffuse, 94 (41%) had focal, 35 (15%) were normal, and 4 (1.7%) patients had variegated pattern of marrow infiltration. High risk Cytogenetics were more commonly observed with diffuse MRI pattern (50% vs. 31% in focal and normal patterns). Patients with diffuse MRI pattern had poorer survival compared to others and responded better to novel agent-based therapies than to conventional chemotherapy (objective response: 88% vs. 46%, P < 0.001). There was a significant improvement of patients' survival with a diffuse MRI pattern when treated upfront with novel agents compared to conventional chemotherapy (47 vs. 24 months; P < 0.001). Diffuse MRI pattern along with ISS-3 and high risk Cytogenetics could identify a very high risk group of patients with extremely poor median survival (21 months) and an only 35% probability of 3-year OS. Our study shows that symptomatic myeloma patients with a diffuse MRI pattern at diagnosis very often show high risk cytogenetic abnormalities and are benefiting from upfront novel agent-based therapies. Diffuse MRI pattern in combination with high risk Cytogenetics and ISS-3 can identify a subset of myeloma patients with very poor prognosis who may need innovative treatment strategies and possibly more aggressive therapies. Am. J. Hematol., 2012. © 2012 Wiley Periodicals, Inc.
Lisa G. Shaffer - One of the best experts on this subject based on the ideXlab platform.
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a new open access journal for a rapidly evolving biomedical field introducing molecular Cytogenetics
Molecular Cytogenetics, 2008Co-Authors: Yuri B. Yurov, Lisa G. Shaffer, Ivan Y Iourov, Thomas Liehr, Svetlana G VorsanovaAbstract:Editorial - Introducing a new journal: Molecular Cytogenetics. An open access source for research concerning molecular cytogenetic techniques.
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a new open access journal for a rapidly evolving biomedical field introducing molecular Cytogenetics
Molecular Cytogenetics, 2008Co-Authors: Yuri B. Yurov, Lisa G. Shaffer, Ivan Y Iourov, Thomas Liehr, Svetlana G VorsanovaAbstract:Editorial - Introducing a new journal: Molecular Cytogenetics. An open access source for research concerning molecular cytogenetic techniques.
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molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis
American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2007Co-Authors: Lisa G. Shaffer, Thehung BuiAbstract:Cytogenetic analysis is an important component of prenatal diagnosis. The ability to rapidly detect aneuploidy and identify small structural abnormalities of fetal chromosomes has been greatly enhanced by the use of molecular cytogenetic technologies. In this review, we will present some of the molecular cytogenetic techniques available to the clinical Cytogenetics laboratory. These include fluorescence in situ hybridization (FISH), quantitative fluorescence PCR (QF-PCR), multiplex ligation-dependent probe amplification (MLPA) and microarray-based comparative genomic hybridization (array CGH). The benefits and limitations of each technology will be discussed in the context of prenatal diagnosis. © 2007 Wiley-Liss, Inc.
