Frontiers in Genetics, 2023 PurposeTo 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
Simple and Rapid In Vivo Generation of Chromosomal Rearrangements using CRISPR/Cas9 Technology
Cell Reports, 2014 Generation of genetically engineered mouse models (GEMMs) for chromosomal translocations in the endogenous loci by a knockin strategy is lengthy and costly.
Rafael B. Blasco +7 more
doaj +1 more source
Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion
Brain Sciences, 2020 The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities.
Manuela Lo Bianco +13 more
doaj +1 more source
Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla [PDF]
, 1992 The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined ...
Bigoni, F. +5 more
core +1 more source
Frontiers in Genetics, 2023 Background and aims: Certain chromosomal structural variations (SVs) in biological parents can lead to recurrent spontaneous abortions (RSAs). Unequal crossing over during meiosis can result in the unbalanced rearrangement of gamete chromosomes such as ...
Huihua Rao +22 more
doaj +1 more source
Rhabdomyosarcoma: Advances in Molecular and Cellular Biology. [PDF]
, 2015 Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in childhood and adolescence. The two major histological subtypes of RMS are alveolar RMS, driven by the fusion protein PAX3-FKHR or PAX7-FKHR, and embryonic RMS, which is usually ...
Duan, Zhenfeng +5 more
core +3 more sources
Chromosome screening using culture medium of embryos fertilised in vitro: a pilot clinical study
Journal of Translational Medicine, 2019 Background Previous studies from this as well as other research groups suggested that non-invasive chromosome screening (NICS) with embryo culture medium can be used to identify chromosomal ploidy and chromosomal abnormalities. We here report a series of
Rui Fang +12 more
doaj +1 more source
A pipeline for complete characterization of complex germline rearrangements from long DNA reads
Genome Medicine, 2020 Background Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints.
Satomi Mitsuhashi +4 more
doaj +1 more source
No increase in radiation-induced chromosome aberration complexity detected by m-FISH after culture in the presence of 5’-bromodeoxyuridine [PDF]
, 2006 The thymidine analogue, 5’-bromodeoxyuridine (BrdU), is a known mutagen that is routinely introduced into culture media for subsequent Harlequin stain analysis and determination of cell cycle status.
Anderson +38 more
core +1 more source
CHROMOSOMES, KARYOTYPE ANALYSIS, CHROMOSOME REARRANGEMENTS IN FUNGI [PDF]
Acta Microbiologica et Immunologica Hungarica, 1999 In this review the organization of fungal chromosomes and the methods used for karyotype analysis are briefly summarized. The role of chromosome rearrangement, supernumerary chromosomes and repeated DNA sequences in the genetic change of fungi is evaluated.
openaire +3 more sources