Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families








Abstract
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Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Familiesby
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() Abstract Background: Phelan-McDermid syndrome (PMS), or 22q13.3 deletion syndrome, is a neurodevelopmental disorder with an estimated prevalence of 1 in 10,000 to 20,000 newborns. It usually occurs de novo, but an unexpectedly high recurrence risk is observed in some families. Our aim is to provide an overvi [...] 1550 11165 |
Pneumocystis jirovecii Pneumonia: Current Advances in Laboratory Diagnosisby
![]() ![]() Abstract Pneumocystis jirovecii pneumonia (PcP) remains a major cause of respiratory illness among immunocompromised patients. PcP is difficult to diagnose, in particular in non-HIV-infected patients due to the lack of specific clinical data associated. Since P. jirovecii could not be cultivated for many y [...] 1453 14174 |
Epigenetics and Infectious Disease: State-of-the-Art and Perspectives in New Generation TherapiesAbstract Epigenetics and Infectious Disease, State of the Art and Perspectives in New Generation Therapies 1005 9298 |
Epigenetic Regulation by Androgen Receptor in Prostate CancerAbstract Prostate cancer is the most commonly diagnosed cancer in men all over the world. Androgen receptor (AR) functions as a nuclear receptor to facilitate ligand-dependent transcriptional activation in the nucleus. Advanced prostate cancer is treated with androgen deprivation therapy (ADT) because androg [...] 1294 10213 |
The Induction of Histone H3K4 Methylation on the SI Gene Correlates with SI mRNA Levels in Enterocyte-Like Caco-2 CellsAbstract Background: Chromodomain-helicase-DNA-binding protein (CHD) 1 is Histone H3 lysine 4 (K4) methylation is thought to be important for the transcriptional activation of genes during differentiation.
Methods: mRNA and histone modification around SI gene in a small intestinal cell line Caco-2 during th [...] 1323 6735 |
The Relationship between Pneumocystis Infection in Animal and Human Hosts, and Climatological and Environmental Air Pollution Factors: A Systematic ReviewAbstract Background: Over the past decade, there has been rising interest in the interaction of Pneumocystis with the environment. This interest has arisen in part from the demonstration that environmental factors have important effects on the viability and transmission of microbes, including Pneumocystis. E [...] 1580 7431 |
In Silico Detection and FISH Analysis to Determine Location of miRNAs in Solea senegalensis Chromosomes Using BACsby
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() Abstract MicroRNAs (miRNAs) are small non-coding RNAs that play a very important role in gene expression through regulation of mRNA cleavage and translation. The Senegalese sole, Solea senegalensis (Kaup 1858), is a flatfish species that shows great potential for marine aquaculture. Nevertheless, the existe [...] 1513 8248 |
Micronucleus-Centromere Assay to Measure Ionizing Radiation Damage of Low Dose Occupational ExposureAbstract Background: The purpose of the present study was to assess the cytogenetic effect of chronic low dose radiation exposure of nuclear power plant workers using the micronucleus centromere assay. This method allows the differentiation between centromere-positive micronuclei containing whole chromosome [...] 1305 6611 |
Applications of Fluorescence in Situ Hybridization in Radiation Cytogenetic Biodosimetry and Population MonitoringAbstract The technique of in situ hybridization (ISH) using radioactively labeled DNA probes was first described in the late 1960s and early 1970s. The first use of fluorescence in situ hybridization (FISH) was reported in 1980s where RNA labeled with a fluorophore at the 3’ end was used to detect specific D [...] 1694 12328 |
Evaluation of Recent Statistical Methods for Detecting Differential Methylation Using BS-seq DataAbstract Whole genome profiling of differential DNA methylation between diseased and normal samples has significant implications in research to understand the role of epigenetic regulations of cells. In recent years, the development of bisulfite sequencing (BS-seq) based molecular technology has enabled the [...] 1574 8346 |