Results 11 to 20 of about 142,560 (388)
G3: Genes, Genomes, Genetics, 2016 Fluorescence in situ hybridization (FISH)-based karyotyping is a powerful cytogenetics tool to study chromosome organization, behavior, and chromosome evolution.
Aiko Iwata-Otsubo +5 more
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BMC Medical Genomics, 2021 Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism.
Na Ma +11 more
semanticscholar +1 more source
BMC Pregnancy and Childbirth, 2021 Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
Jinman Zhang +6 more
semanticscholar +1 more source
Blood Advances, 2021 Although copy number alterations (CNAs) and translocations constitute the backbone of the diagnosis and prognostication of acute myeloid leukemia (AML), techniques used for their assessment in routine diagnostics have not been reconsidered for decades ...
S. Mareschal +17 more
semanticscholar +1 more source
Proceedings of the National Academy of Sciences, 2002 Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci ...
Christoph Lengauer +6 more
openaire +3 more sources
IEEE Access, 2020 Chromosome analysis is an essential task in a cytogenetics lab, where cytogeneticists can diagnose whether there are abnormalities or not. Karyotyping is a standard technique in chromosome analysis that classifies metaphase image to 24 chromosome classes.
Mona Salem Al-Kharraz +2 more
semanticscholar +1 more source
Insects, 2020 Polymorphic chromosomal inversions have been implicated in local adaptation. In anopheline mosquitoes, inversions also contribute to epidemiologically relevant phenotypes such as resting behavior.
Martin Lukindu +8 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 +4 more sources
Journal of Cellular and Molecular Medicine, 2020 To investigate the incidence and clinical significance of chromosomal mosaicism (CM) in prenatal diagnosis by G‐banding karyotyping and chromosomal microarray analysis (CMA).
Yi Zhang, M. Zhong, Dezhong Zheng
semanticscholar +1 more source
Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review
Репродуктивная эндокринология, 2020 Despite the relatively small portion in the structure of the infertility causes, hypergonadotropic hypogonadism (HH) is one of the greatest challenges in reproductive medicine.
О. А. Бурка +3 more
doaj +1 more source