Results 11 to 20 of about 140,678 (408)
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.
Jin-man Zhang +6 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
Karyotyping human chromosomes by optical and X-ray ptychography methods [PDF]
, 2014 Sorting and identifying chromosomes, a process known as karyotyping, is widely used to detect changes in chromosome shapes and gene positions. In a karyotype the chromosomes are identified by their size and therefore this process can be performed by ...
Estandarte, Ana K. +9 more
core +8 more sources
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
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
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
Cell culture-based karyotyping of orectolobiform sharks for chromosome-scale genome analysis
Communications Biology, 2020 Karyotyping, traditionally performed using cytogenetic techniques, is indispensable for validating genome assemblies whose sequence lengths can be scaled up to chromosome sizes using modern methods. Karyotype reports of chondrichthyans are scarce because
Y. Uno +7 more
semanticscholar +1 more source
A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Aplastic anaemia is characterised by cytopenias and hypocellular bone marrow without any evidence of marrow fibrosis or marrow infiltration. There is no specific cytogenetic abnormality associated with aplastic anaemia.
Bhupendra Singh +4 more
doaj +1 more source