Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis
Acta 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
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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
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Determination of plasmid copy number in yeast transformants by means of agarose plugs [PDF]
, 1993 The determination of plasmid copy number in Saccharomyces cerevisiaetransformants containing circular or linear plasmids is currently performed with total yeast DNA extracts obtained from cultures grown under selection.
AM Guerrini +3 more
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Detection of chromosomal regions showing differential gene expression in human skeletal muscle and in alveolar rhabdomyosarcoma [PDF]
, 2004 BACKGROUND: Rhabdomyosarcoma is a relatively common tumour of the soft tissue, probably due to regulatory disruption of growth and differentiation of skeletal muscle stem cells.
Bisognin, Andrea +2 more
core +2 more sources
Journal 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
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Whole genome sequencing and microsatellite analysis of the Plasmodium falciparum E5 NF54 strain show that the var, rifin and stevor gene families follow Mendelian inheritance [PDF]
, 2018 Background: Plasmodium falciparum exhibits a high degree of inter-isolate genetic diversity in its variant surface antigen (VSA) families: P. falciparum erythrocyte membrane protein 1, repetitive interspersed family (RIFIN) and subtelomeric variable ...
Bruske, Ellen +2 more
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Formation of Chromosomal Domains in Interphase by Loop Extrusion
bioRxiv, 2015 Topologically Associating Domains (TADs) are fundamental structural and functional building blocks of human interphase chromosomes, yet mechanisms of TAD formation remain unknown. Here we propose that loop extrusion underlies TAD formation.
G. Fudenberg +5 more
semanticscholar +1 more source
European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2021 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
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Multidirectional chromosome painting substantiates the occurrence of extensive genomic reshuffling within Accipitriformes. [PDF]
, 2015 BACKGROUND: Previous cross-species painting studies with probes from chicken (Gallus gallus) chromosomes 1-10 and a paint pool of nineteen microchromosomes have revealed that the drastic karyotypic reorganization in Accipitridae is due to extensive ...
Beiyuan Fu +10 more
core +4 more sources
Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]
Journal 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