Results 21 to 30 of about 638,054 (298)

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

open access: yesActa Obstetricia et Gynecologica Scandinavica, 2023
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

open access: yesThe Application of Clinical Genetics, 2021
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  

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

open access: yesCells, 2019
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

Effectiveness of non-invasive chromosomal screening for normal karyotype and chromosomal rearrangements

open access: yesFrontiers in Genetics, 2023
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

Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

open access: yesBMC Pregnancy and Childbirth, 2021
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]

open access: yesJournal of Clinical and Diagnostic Research, 2016
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

A case–control study identifying the frequency and spectrum of chromosomal anomalies and variants in a cohort of 1000 couples with a known history of recurrent pregnancy loss in the Eastern region of India

open access: yesJournal of Human Reproductive Sciences, 2021
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]

open access: yesCurrent Biology, 1995
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]

open access: yesJournal of Analytical Research in Clinical Medicine, 2016
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

Chromosomal instability in Streptomyces avermitilis: major deletion in the central region and stable circularized chromosome

open access: yesBMC Microbiology, 2010
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

Home - About - Disclaimer - Privacy