Results 71 to 80 of about 37,774 (292)
Biome representational in silico karyotyping [PDF]
, 2011 Metagenomic characterization of complex biomes remains challenging. Here we describe a modification of digital karyotyping—biome representational in silico karyotyping (BRISK)—as a general technique for analyzing a defined representation of all DNA ...
Lee, Aaron Y. +19 more
core +1 more source
American Journal of Hematology, EarlyView.ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac +16 more
wiley +1 more source
Frontiers in MedicinePurposeCopy number variation sequencing (CNV-Seq) has become a first-line prenatal diagnostic technology. The purpose of this study was to investigate the changes in the target population for prenatal diagnosis in the CNV-Seq era and to assess the ...
Shaozhe Yang +13 more
doaj +1 more source
Karyotype evolution in Fusarium [PDF]
IMA Fungus, 2018 The germ tube burst method (GTBM) was employed to examine karyotypes of 33 Fusarium species representative of 11 species complexes that span the phylogenetic breadth of the genus. The karyotypes revealed that the nucleolar organizing region (NOR), which includes the ribosomal rDNA region, was telomeric in the species where it was discernible.
Waalwijk, C. +5 more
openaire +3 more sources
Generation of New Genotypic and Phenotypic Features in Artificial and Natural Yeast Hybrids
Food Technology and Biotechnology, 2014 Evolution and genome stabilization have mostly been studied on the Saccharomyces hybrids isolated from natural and alcoholic fermentation environments. Genetic and phenotypic properties have usually been compared to the laboratory and reference strains ...
Walter P. Pfliegler +7 more
doaj
Multiplex ligation-dependent probe amplification – a short overview
Romanian Journal of Laboratory Medicine, 2020 Multiplex Ligation-dependent Probe Amplification is a technique proposed for the detection of deletions or duplications that may lead to copy number variations in genomic DNA, mainly due to its higher resolution, and shorter overall diagnosis time, when ...
Moldovan Valeriu, Moldovan Elena
doaj +1 more source
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen +8 more
wiley +1 more source
, 1967 Cartoon of Dr. Akio Awa conducting research involving karyotyping. Joke spoiler: He appears to be \u27working his fingers to the bone\u27 where he is seen accidentally snipping his fingers off with a pair of scissors. See more at Howard B.
Hamilton, Howard B
core +1 more source
Chromosomal microarray in prenatal diagnosis - replacing traditional karyotyping [PDF]
, 2019 Background: In prenatal diagnosis, chromosomal microarray analysis (CMA) has not yet fully replaced conventional karyotyping. As CMA is able to detect smaller genomic imbalances compared to conventional karyotyping, it has become the first-tier test in ...
Winther, Alise Marie
core
, 2016 Detailed information of samples with inconsistent NIPT-FCAPS results to karyotyping/microarray results.
Jun Wang (5906) +10 more
core +1 more source