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The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis
Obstetrics and Gynecology Clinics of North America, 2018Chromosomal microarray analysis (CMA) identifies microdeletions and duplications undetected on karyotype analysis. Copy number variants (CNVs) occur in 1% to 1.7% of all pregnancies, with clinical implications. All women undergoing invasive testing for routine indications should be offered microarray.
Brynn Levy +2 more
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Current Protocols in Human Genetics, 2012
AbstractChorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core. They can be prepared for chromosome analysis using a culture method wherein villi are disaggregated by mechanical and enzymatic methods and the resulting cell suspension is used to establish primary cultures. Mesenchymal cells of the villus
Amy M. Breman, Ankita Patel
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AbstractChorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core. They can be prepared for chromosome analysis using a culture method wherein villi are disaggregated by mechanical and enzymatic methods and the resulting cell suspension is used to establish primary cultures. Mesenchymal cells of the villus
Amy M. Breman, Ankita Patel
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Andrologia, 2022
Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is still unclear. Chromosomal microarrays are widely used to detect sub chromosomal abnormalities (e.g., microdeletions and microduplications).
Şenol Çitli +2 more
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Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is still unclear. Chromosomal microarrays are widely used to detect sub chromosomal abnormalities (e.g., microdeletions and microduplications).
Şenol Çitli +2 more
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[Chromosomal microarray analysis for the causes of miscarriage or stillbirth].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020To assess the value of chromosomal microarray analysis (CMA) for the analysis of 824 samples from miscarriage or stillbirth.Copy number variations (CNVs) in the abortic chorionic villi or stillbirth tissues were detected by CMA.All specimens were successfully analyzed, among which 381 (46.2%) were diagnosed with chromosomal abnormalities, which ...
Panlai Shi +5 more
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Chromosomal microarray analysis of patients with Duane retraction syndrome
International Ophthalmology, 2018Duane retraction syndrome (DS) is a rare congenital strabismus with genetic heterogeneity. The genetic causes of DS are not always of monogenic origin; various chromosomal copy number variations (CNVs) have also been reported. The objective of our study was to characterize the CNVs, including gains and losses detected by high-resolution chromosomal ...
Leyla Niyaz +7 more
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[Chromosomal microarray analysis for lateral ventriculomegaly in fetus].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2015To investigate the relationship between fetal lateral ventriculomegaly and chromosomal microarray analysis (CMA) abnormalities.Fifty fetuses with lateral ventriculomegaly detected by ultrasound and a normal karyotype were included. Forty four fetuses were classified as mild ventriculomegaly (MVM), in which the lateral ventricular atrium was 10-15 mm ...
Weiying Jiang +8 more
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[Chromosomal microarray analysis of 2000 pediatric cases].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016To assess the feasibility of chromosomal microarray analysis(CMA) for studying the correlation between birth defects and chromosomal aberrations.A total of 2000 patients with birth defects were recruited for the CMA testing.Five hundred twenty two patients (26.1%) were found to have chromosomal abnormalities.
Haiming Yuan +6 more
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Ascertainment of Recurrent Translocations by Chromosomal Microarray Analysis
Cancer Genetics, 2012s 421 Detection and characterization of recurrent translocations play an important role in the diagnosis and treatment of hematological disorders. Chromosomal microarray analysis (CMA) is a powerful tool to detect copy number changes in hematological disorders.
Sarah T. South +8 more
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Chromosomal microarray analysis in pregnancies at risk for a molecular disorder
The Journal of Maternal-Fetal & Neonatal Medicine, 2019Objective: The aim of this study was to evaluate the utility of chromosomal microarray (CMA) in patients who were solely referred for molecular diagnosis.Methods: During a 2-year period, CMA was the patients' choice, whether to opt for it or not, for those at risk for fetal hemoglobin Bart's disease or β-thalassemia major who were referred for invasive
Hai-Shen Tang, Dong-Zhi Li
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[Value of chromosomal microarray analysis for fetuses with duodenal obstruction].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021To assess the value of chromosomal microarray analysis (CMA) for fetal duodenal obstruction (DO).Fifty-one fetuses with DO identified by prenatal ultrasound were divided into DO only group and DO with other anomaly group. CMA was carried out on amniotic fluid or umbilical blood samples, and the outcome of pregnancy of all cases were followed up.Eight ...
Yongling Zhang +10 more
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