Results 11 to 20 of about 37,774 (292)
Interactive Karyotyping Training [PDF]
Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities.
Ashwin Kotwaliwale
doaj +2 more sources
Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters [PDF]
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Yiyang Zhu +11 more
doaj +2 more sources
Pulsed field gel electrophoresis enables separation of fungal chromosomes up to several megabases and is a worthwhile tool for fungal karyotyping. The germ tube burst method is a technique to separate fungal chromosomes of any size for chromosome number determination as well as in situ hybridization.
Mehrabi, R. +4 more
openaire +3 more sources
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 ...
Tian-Li, Wang +6 more
openaire +2 more sources
CNVs detected in MMC-treated and untreated cells using molecular karyotyping.
Irina Zakharova (11332215)
core +1 more source
Chromosome Karyotyping and Aneuploidy Detection using Deep Learning Networks [PDF]
Chromosome karyotype analysis is a vital role in the diagnosis of congenital disease, chromosomal aneuploidies. Karyotyping is defined as the process of categorizing chromosomes into one of 24 kinds.
S. Saranya, et al.
core +1 more source
Breakpoint Mapping and Disrupted Gene Identification in Azoospermic Patients With Chromosomal Balanced Translocation by Nanopore Sequencing. [PDF]
This study employed nanopore long‐read sequencing to achieve single‐base‐pair resolution breakpoint mapping in azoospermic patients with chromosomal balanced translocations, revealing cryptic breakpoints and an inverted insertion undetectable by conventional karyotyping.
Zhang J, Chen XL, Chen JY, Ge YS.
europepmc +2 more sources
Description of karyotyping in all the varieties.
Description of karyotyping in all the varieties.
Darshana Bisht (11725355) +6 more
core +1 more source
Seven-fluorochrome mouse M-FISH for high-resolution analysis of interchromosomal rearrangements [PDF]
The mouse has evolved to be the primary mammalian genetic model organism. Important applications include the modeling of human cancer and cloning experiments. In both settings, a detailed analysis of the mouse genome is essential.
Geigl, J. +7 more
core +1 more source
Background Down syndrome (DS) is the most common congenital cause of intellectual disability and also leads to numerous metabolic and structural problems.
Han Kang +5 more
doaj +1 more source

