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Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications
With the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the number of women with...
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Determinants of mosaic chromosomal alteration fitness
Clonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion....
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Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability
Despite the current widespread use of chromosomal microarray analysis (CMA) and exome/genome sequencing for the genetic diagnosis of unexplained...
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Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study
Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further...
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A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment
Recent studies suggest that chromosomal polymorphic variations are associated with infertility. A systematic review of chromosomal polymorphisms in...
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Features of chromosomal abnormalities in relation to consanguinity: analysis of 10,556 blastocysts from IVF/ICSI cycles with PGT-A from consanguineous and non-consanguineous couples
Consanguineous marriage is defined as marriage between first or second-degree cousins, with high prevalence in many cultures and societies....
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Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women
The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their...
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A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD
Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs),...
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Analysis of parental abnormal chromosomal karyotype and subsequent live births in Chinese couples with recurrent pregnancy loss
The frequency and distribution of chromosomal abnormalities and the impact of parental chromosomal aberration on the pregnancy outcomes of couples...
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Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly
Ventriculomegaly is considered to be linked to abnormal neurodevelopment outcome. The aim of this retrospective study was to investigate the current...
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Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review
BackgroundMuch interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in...
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Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations
This study aimed to evaluate the etiology and pregnancy outcomes of fetuses underwent invasive prenatal diagnosis for fetal growth restriction (FGR)...
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No increase in translocated chromosomal aberrations, an indicator of ionizing radiation exposure, in childhood thyroid cancer in Fukushima Prefecture
To investigate the effects of radiation exposure due to the Fukushima nuclear power plant accident, following the disaster Fukushima Prefecture...
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Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia
Despite the advent of genomic sequencing, molecular diagnosis remains unsolved in approximately half of patients with Mendelian disorders, largely...
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Chromosomal abnormalities and atrial fibrillation and ischemic stroke incidence: a nationwide population-based study
There is a paucity of information as to whether chromosomal abnormalities, including Down Syndrome, Turner Syndrome, and Klinefelter Syndrome, have...
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Safety evaluation of vitamin K2 (menaquinone-7) via toxicological tests
This study aims to evaluate the safety of MK-7 produced by fermentation process using a Bacillus subtilis var. natto strain for human ingestion via...
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Novel diffuse white matter abnormality biomarker at term-equivalent age enhances prediction of long-term motor development in very preterm children
Our objective was to evaluate the independent prognostic value of a novel MRI biomarker—objectively diagnosed diffuse white matter abnormality volume...
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Effect of Melissa officinalis L. leaf extract on manganese-induced cyto-genotoxicity on Allium cepa L.
Although the antioxidant properties of Melissa officinalis extract (Mox) are widely known, little work has focused on its protective capacity against...
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An Open Dataset of Annotated Metaphase Cell Images for Chromosome Identification
Chromosomes are a principal target of clinical cytogenetic studies. While chromosomal analysis is an integral part of prenatal care, the conventional...
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Prenatal genetic analysis of fetal aberrant right subclavian artery with or without additional ultrasound anomalies in a third level referral center
To evaluate the correlation between chromosomal abnormalities and fetal aberrant right subclavian artery ( ARSA) with or without additional ultrasound...
