Results 41 to 50 of about 476,312 (268)
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
Objective/background: Myelodysplastic syndromes (MDSs) are a group of monoclonal hematopoietic diseases consisting of a number of various entities.
Mehmet Sevki Uyanik +7 more
doaj +1 more source
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: 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
Chromosomal deletions detected at amniocentesis
Objective: The aim of this study is to present the incidence, prenatal and postnatal findings, and modes of ascertainment in chromosomal deletions detected at amniocentesis.
Chen-Ju Lin +10 more
doaj +1 more source
Objective: To evaluate the performance of first trimester combined screening for the detection of rare chromosomal abnormalities, other than Trisomies 21, 18 or 13 or 45 × . Study design: A database containing 36,254 pregnancies was analyzed.
Daniel Kane +2 more
doaj +1 more source
Chromosome cohesion: A polymerase for chromosome bridges [PDF]
How do cells ensure that sister chromatids produced during DNA replication stay connected with each other until their separation in anaphase? New insight is provided by the discovery of DNA polymerase kappa, which has been found to be required for building the connections between sister chromatids.
openaire +2 more sources
Chromosomics: Bridging the Gap between Genomes and Chromosomes [PDF]
The recent advances in DNA sequencing technology are enabling a rapid increase in the number of genomes being sequenced. However, many fundamental questions in genome biology remain unanswered, because sequence data alone is unable to provide insight into how the genome is organised into chromosomes, the position and interaction of those chromosomes in
Janine E. Deakin +15 more
openaire +4 more sources
Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall +2 more
wiley +1 more source
Chromosomal rearrangements can alter the rate and patterns of gene flow within or between species through a reduction in the fitness of chromosomal hybrids or by reducing recombination rates in rearranged areas of the genome.
Steven J. B. Cooper +2 more
doaj +1 more source

