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
doaj +1 more source
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
core +3 more sources
Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia [PDF]
, 2019 Introduction Chromosomal abnormalities are frequent events in hematological malignancies. The degree of HLA compatibility between donor and recipient in hematopoietic stem cell transplantation is critical.
Breman, Amy M. +10 more
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“What if There's Something Wrong with Her?”‐How Biomedical Technologies Contribute to Epistemic Injustice in Healthcare [PDF]
, 2020 While there is a steadily growing literature on epistemic injustice in healthcare, there are few discussions of the role that biomedical technologies play in harming patients in their capacity as knowers.
Alexander Michelle +33 more
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Visualization-based discovery and analysis of genomic aberrations in microarray data
BMC Bioinformatics, 2005 Background Chromosomal copy number changes (aneuploidies) play a key role in cancer progression and molecular evolution. These copy number changes can be studied using microarray-based comparative genomic hybridization (array CGH) or gene expression ...
Chen Xing +2 more
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Indonesian Journal of Obstetrics and Gynecology, 2022 Objective : To perform chromosomal microarray when similar case was found. Methods: Case report Case : G1P0A0, 20 years-old, 23-24 weeks gestation, normal BMI, was diagnosed by ultrasonography with multiple congenital anomaly consisted by ...
Sefty M. Samosir +3 more
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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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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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Transcribed ultraconserved noncoding RNAs (T-UCR) are involved in Barrett's esophagus carcinogenesis. [PDF]
, 2014 Barretts esophagus (BE) involves a metaplastic replacement of native esophageal squamous epithelium (Sq) by columnar-intestinalized mucosa, and it is the main risk factor for Barrett-related adenocarcinoma (BAc).
Baffa, R +17 more
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High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells. [PDF]
, 2017 Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes.
Arias, Angelo +12 more
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