Search Results - "Jancuskova, Tereza"
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Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh
Published in PloS one (20-09-2018)“…It has been recognized that the Merle coat pattern in dogs is not only a visually interesting feature, but it also exerts an important biological role, in…”
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Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human
Published in Current genomics (01-04-2018)“…Background: Cytogenetically visible chromosomal imbalances in humans are deleterious and adverse in the majority of the cases. However, healthy persons living…”
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Comprehensive Analyses of White-Handed Gibbon Chromosomes Enables Access to 92 Evolutionary Conserved Breakpoints Compared to the Human Genome
Published in Cytogenetic and genome research (01-01-2015)“…Gibbon species (Hylobatidae) impress with an unusually high number of numerical and structural chromosomal changes within the family itself as well as compared…”
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Parental origin of deletions and duplications - about the necessity to check for cryptic inversions
Published in Molecular cytogenetics (09-03-2018)“…Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have…”
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Heterogeneous aetiology and clinical presentation of cardiac involvement in hypereosinophilic syndrome: A case series
Published in Cor et vasa (English ed.) (01-06-2018)“…Hypereosinophilic syndrome (HES) is a heterogeneous group of diseases defined by marked hyperesonofilia (1.5×109/l) that persists more than 6 months with organ…”
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TYRP1:c.555T>G is a recurrent mutation found in Australian Shepherd and Miniature American Shepherd dogs
Published in Animal genetics (01-10-2018)Get full text
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TYRP 1: c.555T>G is a recurrent mutation found in Australian Shepherd and Miniature American Shepherd dogs
Published in Animal genetics (01-10-2018)Get full text
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Candidatus Neoehrlichia mikurensis infection identified in 2 hematooncologic patients: benefit of molecular techniques for rare pathogen detection
Published in Diagnostic microbiology and infectious disease (01-03-2011)“…Abstract Hematooncologic patients often host rare or fastidious pathogens. Using 16S rDNA sequencing and transmission electron microscopy, we have identified 2…”
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Mantle cell lymphoma‐variant Richter syndrome: Detailed molecular‐cytogenetic and backtracking analysis reveals slow evolution of a pre‐MCL clone in parallel with CLL over several years
Published in International journal of cancer (15-11-2016)“…Richter syndrome represents the transformation of the chronic lymphocytic leukemia (CLL) into an aggressive lymphoma, most frequently the diffuse large B‐cell…”
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Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8
Published in American journal of medical genetics. Part A (01-04-2015)“…We identified a de novo deletion of 14q11.2 in a Czech patient with developmental delay, mild autistic features, macrosomy, macrocephaly, orthognathic…”
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A method to identify new molecular markers for assessing minimal residual disease in acute leukemia patients
Published in Leukemia research (01-10-2013)“…Abstract Acute leukemias (AL) comprise a heterogeneous group of hematologic malignancies, and individual patient responses to treatment can be difficult to…”
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Five-Color Multiplex Real-Time PCR Technology to Detect Over 75 Recurrent Chromosomal Abnormalities in Acute Myeloid Leukemia; Benefits for Minimal Residual Disease Detection
Published in Blood (18-11-2011)“…Abstract 2526 Many studies on childhood and adult leukemias have demonstrated that thorough molecular analysis at the time of diagnosis and minimal residual…”
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A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples
Published in Leukemia research (01-07-2011)“…Abstract TP53 plays a pivotal role in the process of DNA repair and apoptosis. In 10–20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway…”
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Identification of Novel Molecular Markers for the Follow-up of Minimal Residual Disease in Hematooncological Disorders
Published in Blood (18-11-2011)“…Abstract 4905 Modern molecular diagnostic techniques allow the detection of minimal residual disease (MRD) in hematological malignancies with high sensitivity,…”
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Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient
Published in Molecular cytogenetics (15-07-2014)“…In acute myeloid leukemia (AML), the MDS1 and EVI1 complex locus - MECOM, also known as the ecotropic virus integration site 1 - EVI1, located in band 3q26,…”
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Quantification of extracellular DNA using hypermethylated RASSF1A, SRY, and GLO sequences--evaluation of diagnostic possibilities for predicting placental insufficiency
Published in DNA and cell biology (01-06-2010)“…This study evaluated quantification of fetal extracellular DNA in maternal plasma for differentiation between cases at risk of onset of…”
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Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient
Published in Molecular cytogenetics (01-01-2014)“…BACKGROUNDIn acute myeloid leukemia (AML), the MDS1 and EVI1 complex locus - MECOM, also known as the ecotropic virus integration site 1 - EVI1, located in…”
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