[HTML][HTML] 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 …
Advanced technologies for the molecular diagnosis of fragile X syndrome
F Tassone - Expert review of molecular diagnostics, 2015 - Taylor & Francis
Fragile X syndrome (FXS), a trinucleotide repeat disorder, is the most common heritable
form of cognitive impairment. Since the discovery of the FMR1 gene in 1991, great strides …
form of cognitive impairment. Since the discovery of the FMR1 gene in 1991, great strides …
FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers
Variation in the FMR1 gene may affect aspects of cognition, such as executive function and
memory. Environmental factors, such as stress, may also negatively impact cognitive …
memory. Environmental factors, such as stress, may also negatively impact cognitive …
[HTML][HTML] 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 …
Executive Dysfunction in Female FMR1 Premutation Carriers
There is now growing evidence of cognitive weakness in female premutation carriers
(between 55 and 199 CGG repeats) of the fragile X mental retardation gene, including …
(between 55 and 199 CGG repeats) of the fragile X mental retardation gene, including …
[HTML][HTML] Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females
DNA methylation of the Fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary has
been associated with executive dysfunction in female carriers of a FMR1 premutation (PM …
been associated with executive dysfunction in female carriers of a FMR1 premutation (PM …
[HTML][HTML] Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 …
The FMR1 premutation (PM) is relatively common in the general population. Evidence
suggests that PM carriers may exhibit subtle differences in specific cognitive and language …
suggests that PM carriers may exhibit subtle differences in specific cognitive and language …
Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study
The FMR1 premutation has been associated with difficulties in executive functioning,
including verbal inhibition. However, little is known about the longitudinal profiles of verbal …
including verbal inhibition. However, little is known about the longitudinal profiles of verbal …
Syntactic ability of girls with fragile X syndrome: phonological memory and discourse demands on complex sentence use
ST Kover, L Abbeduto - American journal on intellectual …, 2019 - meridian.allenpress.com
This study was designed to establish the extent of delay in complex sentence use by
females with fragile X syndrome (FXS) and to identify sources of variability among …
females with fragile X syndrome (FXS) and to identify sources of variability among …
Long term verbal memory recall deficits in fragile X premutation females
Carriers of a FMR1 premutation allele (between 55 and 199 CGG repeats) are at risk of
developing a wide range of medical, psychiatric and cognitive disorders, including executive …
developing a wide range of medical, psychiatric and cognitive disorders, including executive …