Fragile X syndrome
RJ Hagerman, E Berry-Kravis, HC Hazlett… - Nature reviews Disease …, 2017 - nature.com
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …
spectrum disorder, and patients can present with severe behavioural alterations, including …
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …
Systematic review and meta-analysis: mental health in children with neurogenetic disorders associated with intellectual disability
Objective The behavioral phenotype of neurogenetic disorders associated with intellectual
disability often includes psychiatric comorbidity. The objectives of this systematic review and …
disability often includes psychiatric comorbidity. The objectives of this systematic review and …
Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers
Background: The fragile X premutation carrier state (PM)(55–200 CGG repeats in the fragile
X messenger ribonucleoprotein 1, FMR1 gene) is associated with several conditions …
X messenger ribonucleoprotein 1, FMR1 gene) is associated with several conditions …
Fragile X premutation: medications, therapy and lifestyle advice
DK Sodhi, R Hagerman - Pharmacogenomics and Personalized …, 2021 - Taylor & Francis
The fragile X premutation is characterized by 55–200 CGG repeats in the 5ʹ untranslated
region of FMR1, whereas full fragile X mutation has greater than 200 repeats and full …
region of FMR1, whereas full fragile X mutation has greater than 200 repeats and full …
Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications
R Aishworiya, D Protic, R Hagerman - Journal of Neurology, 2022 - Springer
There is increasing recognition of the heterogeneity of origin of cases of autism spectrum
disorder (ASD) with multiple forms of ASD having been identified over the decades. Among …
disorder (ASD) with multiple forms of ASD having been identified over the decades. Among …
Genetic cluster of fragile X syndrome in a Colombian district
W Saldarriaga, JV Forero-Forero… - Journal of human …, 2018 - nature.com
Abstract Background: Fragile X syndrome (FXS) is the most common cause of inherited
intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene …
intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene …
Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome
Individuals who carry a premutation (PM) allele on the FMR1 gene may experience
executive limitations associated with their genetic status, including inhibition deficits …
executive limitations associated with their genetic status, including inhibition deficits …
The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities
The FMR1 gene in its premutation (PM) state has been linked to a range of clinical and
subclinical phenotypes among FMR1 PM carriers, including some subclinical traits …
subclinical phenotypes among FMR1 PM carriers, including some subclinical traits …
Fragile X premutation and associated health conditions: a review
N Tassanakijpanich, RJ Hagerman… - Clinical …, 2021 - Wiley Online Library
Fragile X syndrome (FXS) is the most common single gene disorder, which causes autism
and intellectual disability. The fragile X mental retardation 1 (FMR1) gene is silenced when …
and intellectual disability. The fragile X mental retardation 1 (FMR1) gene is silenced when …