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About 2,440 results

ALLMedicine™ Fragile X Syndrome Center

Research & Reviews  953 results

Paternal retraction of a fragile X allele to normal size, showing normal function over ...
https://doi.org/10.1002/ajmg.a.62500
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 (...

Neuroanatomical Profile of Young Females with Fragile X Syndrome: A Voxel-Based Morphom...
https://doi.org/10.1093/cercor/bhab319
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...

Change in Behavior Problems from Childhood Through Adolescence for Children with Fragil...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8449523
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...

Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal...
https://doi.org/10.1093/hmg/ddab268
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....

Fragile X Syndrome: Lessons Learned and What New Treatment Avenues Are on the Horizon.
https://doi.org/10.1146/annurev-pharmtox-052120-090147
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...

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Guidelines  1 results

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific...
https://doi.org/10.1038/gim.2013.61
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...

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News  22 results

Zynerba's cannabis-based drug for rare genetic disorder fails study
https://www.reuters.com/article/us-zynerba-pharms-study/zynerbas-cannabis-based-drug-for-rare-genetic-disorder-fails-study-idUSKBN2411Q2

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...

CBD Gel Promising for Fragile X Syndrome
https://www.medscape.com/viewarticle/913267

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...

Transdermal CBD gel decreases recalcitrant focal seizures
https://www.mdedge.com/neurology/article/190157/epilepsy-seizures/transdermal-cbd-gel-decreases-recalcitrant-focal-seizures?channel=39313
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.

Tests reveal risk of passing on SCD, other diseases
https://www.mdedge.com/hematology-oncology/article/185547/anemia/tests-reveal-risk-passing-scd-other-diseases
HT Staff

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.

Alcobra plunges after FDA places hold on ADHD drug
https://www.reuters.com/article/us-alcobra-fda/alcobra-plunges-after-fda-places-hold-on-adhd-drug-idUSKCN11Z2CP

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...

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