Results 21 to 30 of about 638,054 (298)
Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang+12 more
doaj +1 more source
Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations
Matthew J Rabinowitz, Phillip J Huffman, Nora M Haney, Taylor P Kohn The James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USACorrespondence: Taylor P KohnJames Buchanan Brady Urological Institute ...
Rabinowitz MJ+3 more
doaj
Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that they
Nejla Erkilic+14 more
doaj +1 more source
Purpose: To study the accuracy of non-invasive chromosomal screening (NICS) results, in normal chromosomes and chromosomal rearrangement groups and to investigate whether using trophoblast cell biopsy along with NICS, to choose embryos for transfer can ...
Bo-lan Sun+11 more
doaj +1 more source
Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal
Li-Ping Chen+8 more
doaj +1 more source
Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience [PDF]
Introduction: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality.
Sunil Kumar Polipalli+6 more
doaj +1 more source
Background: Recurrent pregnancy loss (RPL) is a common occurrence that affects up to 15% of couples in their reproductive years. In both males and females with RPL and infertility, chromosomal abnormalities play a significant impact.
Abhik Chakraborty+3 more
doaj +1 more source
Chromosome Structure: Coiling up chromosomes [PDF]
The mechanism by which eukaryotic chromosomes condense as cells enter mitosis has long been inaccessible to molecular biologists. An important clue has now been provided by a ubiquitous protein family, the SMCs.
openaire +3 more sources
Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
doaj +1 more source
Background The chromosome of Streptomyces has been shown to be unstable, frequently undergoing gross chromosomal rearrangements. However, the mechanisms underlying this phenomenon remain unclear, with previous studies focused on two chromosomal ends as ...
Wen Ying+5 more
doaj +1 more source