ALLMedicine™ Fragile X Syndrome Center
Research & Reviews 953 results
American Journal of Medical Genetics. Part A; Bartlett E, Archibald AD et. al.
Sep 22nd, 2021 - The FMR1 premutation (PM:55-199 CGG) is associated with fragile X-associated tremor/ataxia syndrome (FXTAS) and when maternally transmitted is at risk of expansion to a hypermethylated full mutation (FM: ≥ 200 CGG) that causes fragile X syndrome (...
Cerebral Cortex (New York, N.Y. : 1991); Lee CH, Bartholomay KL et. al.
Sep 22nd, 2021 - Fragile X syndrome is a genetic condition associated with alterations in brain and subsequent cognitive development. However, due to a milder phenotype relative to males, females with fragile X syndrome are underrepresented in research studies. In...
Journal of Autism and Developmental Disorders; DaWalt LS, Fielding-Gebhardt H et. al.
Sep 19th, 2021 - In this study, we examined trajectories of specific domains of behavior problems (i.e., attention problems, depression/anxiety, and aggressive behavior) from age 6 to 18 in a sample of 55 children with fragile X syndrome. We also examined autism s...
Human Molecular Genetics; Chaya T, Ishikane H et. al.
Sep 12th, 2021 - Intellectual disability (ID) is a neurodevelopmental disorder affecting approximately 0.5%-3% of the population in the developed world. Individuals with ID exhibit deficits in intelligence, impaired adaptive behavior, and often visual impairments....
Annual Review of Pharmacology and Toxicology; Hagerman RJ, Hagerman PJ
Sep 10th, 2021 - Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading single-gene form of autism spectrum disorder, encompassing cognitive, behavioral, and physical forms of clinical involvement. FXS is caused by la...
Guidelines 1 results
Genetics in Medicine : Official Journal of the American C... Monaghan KG, Lyon E et. al.
Jun 15th, 2013 - Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. This document prov...
News 22 results
Jun 30th, 2020 - (Reuters) - Zynerba Pharmaceuticals Inc said on Tuesday its experimental cannabis-based gel Zygel was not statistically significant in improving aberrant behavior when compared to a placebo in patients with a neurological disorder called Fragile X...
May 21st, 2019 - SAN FRANSICO — A clear transdermal cannabidiol (CBD) gel (ZYN002, Zynerba Pharmaceuticals) improved emotional and behavioral symptoms experienced by children and adolescents with fragile X syndrome in a phase 2 open-label study, the company report...
Michele G. Sullivan
Dec 3rd, 2018 - NEW ORLEANS – A synthetic, transdermal, cannabidiol gel reduced the rate of seizures by half in a group of adults with treatment-resistant focal seizures who were participating in an open-label, long-term extension trial. Michele G.
Jul 24th, 2017 - Photo by Graham Colm Blood samples Quest Diagnostics has announced the US launch of QHerit™, a genetic screening service that helps people of multiple ethnicities identify their risk of passing on heritable disorders to their offspring. The QHerit.
Sep 29th, 2016 - (Reuters) - Alcobra Ltd’s market value more than halved on Thursday, a day after the company said the U.S. Food and Drug Administration had placed a hold on its lead experimental drug. A view shows the U.S. Food and Drug Administration (FDA) headq...