Track topics on Twitter Track topics that are important to you
Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. The distinctive features of FMD include skeletal dysplasia, facial dysmorphism, extremities anomalies, deafness, cleft palate and eye anterior segment anomalies, yet none of the complications, such as acro-osteolysis, keratitis, xerosis or poikiloderma, have been reported in FMD.
This article was published in the following journal.
Two phenomena that have been described in germline complex genomic rearrangements (CGRs) formation are chromothripsis and chromoanasynthesis, characterized by distinct features such as the orientation...
Coordinated brain activity between individuals, or inter-brain synchrony, has been shown to increase during cooperation and correlate with cooperation success. However, few studies have examined paren...
We report normal neutrophil count in a mother, who carries the same ELANE mutation as her daughter with severe congenital neutropenia. We hypothesized that the mother possessed wild- and mutant-type c...
Mother-daughter communication about health is one of the most important experiences that young women can have to promote a healthy lifestyle, but the success of that communication depends on a variety...
Reduced-representation sequencing (RRS) is a genome-wide scanning method for simultaneous discovery and genotyping of thousands to millions of SNPs that is used across a wide range of species. However...
The study "Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder" is a research study that aims to explore the use of whol...
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital...
The Mother-Daughter Initiative (MDI) will test the feasibility and acceptability of a strategy to deliver comprehensive cervical cancer prevention services in Thailand and the Philippines ...
The VetSeq Study is a pilot intervention study exploring the feasibility of integrating genome sequencing into clinical care at the VA Boston Healthcare System.
This study will seek to determine if rapid genomic sequencing improves outcomes for acutely ill infants. The investigator will enroll up to 1,000 acutely ill infants in a prospective, rand...
Techniques to determine the entire sequence of the GENOME of an organism or individual.
Separation systems containing a relatively long-lived parent radionuclide which produces a short-lived daughter in its decay scheme. The daughter can be periodically extracted (milked) by means of an appropriate eluting agent.
Study subjects in COHORT STUDIES whose outcomes are unknown e.g., because they could not or did not wish to attend follow-up visits.(from Dictionary of Epidemiology, 5th ed.)
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.
Young, unweaned mammals. Refers to nursing animals whether nourished by their biological mother, foster mother, or bottle fed.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...