Innovative method for reducing uninformative calls in non-invasive prenatal testing [PDF]
, 2018 Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable ...
Budis, Jaroslav +13 more
core +2 more sources
DNA breaks and chromosomal aberrations arise when replication meets base excision repair
Journal of Cell Biology, 2014 DNA double-strand breaks and chromosomal aberrations after treatment with N-alkylating agents likely arise as a result of replication fork collision with single-strand breaks generated during base excision repair.
M. Ensminger +5 more
semanticscholar +1 more source
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease
Molecular Cytogenetics, 2014 Chromosomal aberrations include translocations, deletions, duplications, inversions, aneuploidies and complex rearrangements. They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA ...
W. Kloosterman, R. Hochstenbach
semanticscholar +1 more source
HPV type-related chromosomal profiles in high-grade cervical intraepithelial neoplasia
BMC Cancer, 2012 Background The development of cervical cancer and its high-grade precursor lesions (Cervical Intraepithelial Neoplasia grade 2/3 [CIN2/3]) result from a persistent infection with high-risk human papillomavirus (hrHPV) types and the accumulation of (epi ...
Bierkens Mariska +7 more
doaj +1 more source
Radiation-induced chromosomal aberrations in grape Phylloxera
Advances in Horticultural Science, 2013 Chromosomal aberrations in phylloxera females induced by different doses of gamma irradiation were detected. The results showed that the chromosomes of all tested embryos of irradiated phylloxera had aberrations, regardless of dose.
H. Makee, N. Tafesh, I. Idris
doaj +1 more source
Correlation between Cytogenetic Findings and Spermatogenic Failure in Bulgarian Infertile Men
Life, 2022 The aim of our study was to determine the type and frequency of chromosomal aberrations and polymorphisms in men with different degrees of spermatogenic failure in comparison to men with normozoospermia, in order to find correlations between cytogenetic ...
Svetlana Yovinska +10 more
doaj +1 more source
Specific metaphase and interphase detection of the breakpoint region in 8q24 of burkitt lymphoma cells by triple-color fluorescence in situ hybridization [PDF]
, 1992 Triple fluorescence in situ hybridization with a plasmid DNA library from sorted human chromosomes 8 in combination with bacteriophage clones flanking the breakpoint in 8q24 of the Burkitt lymphoma cell line Jl was used for the specific delineation of ...
Anastasi +33 more
core +1 more source
Chromosomal integrity after UV irradiation requires FANCD2-mediated repair of double strand breaks [PDF]
, 2016 Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork ...
Bocco, Jose Luis +7 more
core +3 more sources
Haematologica, 2013 Waldenström's macroglobulinemia is a disease of mature B cells, the genetic basis of which is poorly understood. Few recurrent chromosomal abnormalities have been reported, and their prognostic value is not known.
F. Nguyen‐Khac +28 more
semanticscholar +1 more source
Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]
, 2006 Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko +5 more
core +1 more source