Chromosomal microarray analysis in prenatal diagnosis
Clinical and Experimental Obstetrics & Gynecology, 2017 Genome copy number variation (CNV) is an important cause of genetic and developmental disorders. In recent years, chromosomal microarray analysis (CMA) technology to test for genomic copy number variation has been developed and gradually applied in prenatal diagnostics, offering high diagnostic ability.
Yingjun, Xie, Xiaofang, Sun
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Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
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Differential expression analysis with global network adjustment [PDF]
, 2013 <p>Background: Large-scale chromosomal deletions or other non-specific perturbations of the transcriptome can alter the expression of hundreds or thousands of genes, and it is of biological interest to understand which genes are most profoundly ...
A Antonellis +28 more
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Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly [PDF]
Scientific Reports, 2020 AbstractVentriculomegaly is considered to be linked to abnormal neurodevelopment outcome. The aim of this retrospective study was to investigate the current applications of chromosomal microarray analysis (CMA) in foetuses with ventriculomegaly. A total of 548 foetuses with ventriculomegaly detected by prenatal ultrasound underwent single nucleotide ...
Wang, Jiamin +8 more
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Clinical and Experimental Obstetrics & Gynecology, 2020 We report a case of prenatal diagnosis of mosaicism for chromosome t (7; 14) with a favorable fetal outcome. Similar chromosomal abnormalities have been observed in patients with hematologic malignancy.
D. Lu, D. Cao, Q. Zhao, X. Chen
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Cancer gene prioritization by integrative analysis of mRNA expression and DNA copy number data: a comparative review [PDF]
, 2011 A variety of genome-wide profiling techniques are available to probe complementary aspects of genome structure and function. Integrative analysis of heterogeneous data sources can reveal higher-level interactions that cannot be detected based on ...
Akavia +30 more
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An Ultra-High-Density, Transcript-Based, Genetic Map of Lettuce. [PDF]
, 2013 We have generated an ultra-high-density genetic map for lettuce, an economically important member of the Compositae, consisting of 12,842 unigenes (13,943 markers) mapped in 3696 genetic bins distributed over nine chromosomal linkage groups.
Ashrafi, Hamid +10 more
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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]
, 2019 Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J +21 more
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Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil. [PDF]
PLoS ONE, 2014 Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous.
Rodrigo Roncato Pereira +9 more
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Analysis of acid-stressed Bacillus cereus reveals a major oxidative response and inactivation-associated radical formation [PDF]
, 2010 Acid stress resistance of the food-borne human pathogen Bacillus cereus may contribute to its survival in acidic environments, such as encountered in soil, food and the human gastrointestinal tract. The acid stress responses of B.
Abee, T. +4 more
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