Introduction Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between ...
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 hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repe...
A. Fragile X syndrome is a genetic syndrome caused by the abnormal expansion of the CGG trinucleotide repeat on the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome. This results in loss of the fragile X mental retardation protein (FMRP) and ultimately leads ...
FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)BIOMARKERSATAXIAFRAGILE X syndromeGENE expressionDISEASE progressionFragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition ...
Hagerman PJ, Hagerman R. Fragile X syndrome. Current biology : CB. 2021 Mar 22:31(6):R273-R275. doi: 10.1016/j.cub.2021.01.043. Epub[PubMed PMID: 33756134] [20] Zangenehpour S, Cornish KM, Chaudhuri A. Whole-brain expression analysis of FMRP in adult monkey and its relationship ...
Fragile-X syndrome in North East Essex: towards systematic screening: clinical selection. J Intellect Disabil Res. 1994; 38 (Pt 1):27–35.Sabaratnam, M. Laver, S. , Bulter, L. & Pembrey, M. ( 1994 ). Fragile-X syndrome in North-East Essex: towards systematic screening: clinical ...
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 hyperactivity, impulsivity and anxiety, in addition to poor language d
et al. Early Social Enrichment Rescues Adult Behavioral and Brain Abnormalities in a Mouse Model of Fragile X Syndrome. Neuropsychopharmacol 40, 1113–1122 (2015). https://doi.org/10.1038/npp.2014.291 Download citation Received23 July 2014 Revised16 September 2014 Accepted23 September 2014 Published...
3 ⅐ No. 5 review FMR1 and the fragile X syndrome: Human genome epidemiology review Dana C. Crawford, PhD1,2, Juan M. Acun˜a, MD3,4, and Stephanie L. Sherman, PhD5 The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms...
Adult patients suffer from mild to severe mental retardation in addition to very specific ph...Kooy RF,Willemsen R,Oostra BA,et al.Fragile X syndrome at the turn of the century.Molecular Medicine Today. 2000Kooy RF, Willemsen R, Oostra BA. Fragile X syndrome at the turn of the century. ...