News Medical

Researchers move closer to solving puzzle of 15q13.3 microdeletion syndrome

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that ...
Science Daily

Gene playing major role in neurological condition found

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that ...
Nature

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Purpose: The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of microdeletion syndromes has ...
Nature

A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder

With the advent of genome-wide technologies such as chromosomal microarray and next-generation sequencing (NGS) analysis, awareness that some patients with genetic disorders can possess another ...
EurekAlert!

Researchers identify gene largely accounting for 15q13.3 microdeletion syndrome

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that ...
EurekAlert!

Child with rare epileptic disorder receives long-awaited diagnosis

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a ...
Medical Xpress

Targeting a single gene may reverse cognitive deficits in 22q11.2 Deletion Syndrome

Researchers have identified a promising strategy to improve memory and brain cell function in models of 22q11.2 Deletion Syndrome. The study, published in eLife, shows that reducing the levels of the ...
Nasdaq

SMART Study Finds 22q11.2 Microdeletion Prevalence Much Higher than Expected

Study showed a higher-than-expected prevalence of 1/1,524 in the general population that compares well with conditions broadly recommended for routine testing such as trisomy 21 in average risk ...
HealthTech

Microdeletions: What to Look for in A Non-Invasive Prenatal Test

Prenatal testing is now able to test for many potential chromosomal abnormalities even before the 10th week of pregnancy like certain trisomies, sex chromosome aneuploidies, and microdeletions in a ...
Monthly Prescribing Reference

Transdermal Cannabidiol Gets Orphan Drug Status for 22q11.2 Deletion Syndrome

The efficacy and safety of Zygel is being evaluated in the INSPIRE study. The Food and Drug Administration (FDA) has granted Orphan Drug designation to Zygel™ (cannabidiol gel; Zynerba Pharmaceuticals ...
News Medical

Researchers identify genetic cause of Lennox-Gastaut syndrome

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a ...