Men with an FMR1 premutation and their health education needs
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1399
Abstract: Men who carry an FMR1 premutation are at‐risk to develop a late‐onset neurodegenerative disorder called fragile X‐Associated Ataxia/Tremor syndrome (FXTAS). However, little is known about their health informational needs. This qualitative study is the first… read more here.
Keywords: information; fmr1 premutation; men carry; health ... See more keywords
Developmental aspects of FXAND in a man with the FMR1 premutation
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1050
Abstract: Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall under an umbrella term of Fragile X‐associated… read more here.
Keywords: aspects fxand; fmr1 premutation; fmr1; developmental aspects ... See more keywords
Preimplantation genetic diagnosis versus prenatal diagnosis—decision-making among pregnant FMR1 premutation carriers
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-018-1293-3
Abstract: PurposeTo detect which factors influence decision-making among pregnant FMR1 premutation carriers regarding the preferred mode of genetic diagnosis: IVF-PGT-M (in vitro fertilization with preimplantation genetic testing for monogenic gene diseases), or CVS (chorionic villus sampling),… read more here.
Keywords: decision; ivf pgt; fmr1 premutation; diagnosis ... See more keywords
Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-93489-x
Abstract: FMR1 premutation (55–200 CGG repeats) results in fragile X-associated primary ovarian insufficiency (FXPOI). We evaluated expression levels of folliculogenesis-related mediators, follicle-stimulating hormone (FSH) receptor and anti-Mullerian hormone (AMH), to gain insights into the mechanisms underlying… read more here.
Keywords: premutation; hormone; fmr1 premutation; premutation carriers ... See more keywords
Social anxiety and autism spectrum traits among adult FMR1 premutation carriers
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12791
Abstract: Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN)… read more here.
Keywords: premutation; fmr1 premutation; premutation carriers; anxiety autism ... See more keywords
Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2018.00173
Abstract: The FMR1 premutation is of increasing interest to the FXS community, as questions about a primary premutation phenotype warrant research attention. 100 FMR1 premutation carrier mothers (mean age = 58; 67–138 CGG repeats) of adults… read more here.
Keywords: premutation; carrier mothers; fmr1 premutation; premutation carrier ... See more keywords
Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2018.00338
Abstract: Mitochondrial dysfunction (MD) has been identified in lymphocytes, fibroblasts and brain samples from adults carrying a 55–200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene (premutation; PM); however, limited data are available… read more here.
Keywords: premutation; fmr1 premutation; impact fmr1; premutation neurobehavior ... See more keywords
Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Psychiatry"
DOI: 10.3389/fpsyt.2021.728952
Abstract: FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and… read more here.
Keywords: premutation; fragile associated; fmr1 premutation; premutation carriers ... See more keywords