Results 31 to 40 of about 1,000,594 (265)
Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations
The Application of Clinical Genetics, 2021 Matthew J Rabinowitz, Phillip J Huffman, Nora M Haney, Taylor P Kohn The James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USACorrespondence: Taylor P KohnJames Buchanan Brady Urological Institute ...
Rabinowitz MJ +3 more
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Cells, 2019 Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that they
Nejla Erkilic +14 more
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Antenatal screening for chromosomal and genetic abnormalities:Cost effectiveness and outcome [PDF]
Journal of Analytical Research in Clinical Medicine, 2018 Introduction: As an essential part of antenatal care, pregnant women of all ages should be offered screening for chromosomal abnormalities before 20 weeks of gestation.
Simin Tagavi +7 more
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Frontiers in Genetics, 2023 Purpose: To 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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Absence of BLM leads to accumulation of chromosomal DNA breaks during both unperturbed and disrupted S phases [PDF]
, 2004 Bloom's syndrome (BS), a disorder associated with genomic instability and cancer predisposition, results from defects in the Bloom's helicase (BLM) protein.
Dunphy, William G. +3 more
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Genomic alterations in primary gastric adenocarcinomas correlate with clinicopathological characteristics and survival. [PDF]
, 2004 Background & aimsPathogenesis of gastric cancer is driven by an accumulation of genetic changes that to a large extent occur at the chromosomal level. In order to investigate the patterns of chromosomal aberrations in gastric carcinomas, we performed
Albertson, Donna +7 more
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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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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
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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
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Chromosome Structure: Coiling up chromosomes [PDF]
Current Biology, 1995 The mechanism by which eukaryotic chromosomes condense as cells enter mitosis has long been inaccessible to molecular biologists. An important clue has now been provided by a ubiquitous protein family, the SMCs.
openaire +3 more sources