Developmental Medicine & Child Neurology, 1992 SUMMARYWe have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQS. These children present an enormous challenge to all child‐care providers, be they in medicine, education, or in various therapy
E, Goldson, R J, Hagerman
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Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene [PDF]
, 2016 Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years.
Arrieta Saez, María Isabel +5 more
core +7 more sources
Serum Metabolic and Gut Microbiome Differences in Age-Associated Fragile X Syndrome (FXS) Pediatric Patients May Benefit Clinical Therapy Development [PDF]
Int J Gen MedXikun Han +3 more
openalex +3 more sources
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
core +2 more sources
Experimental approaches towards therapeutic interventions for fragile X syndrome [PDF]
, 2010 Fragile X syndrome (FXS) is one of the most common inherited forms of intellectual disability. It affects on average 1/4000 males and 1/7000 females. FXS was described for the first time in 1943 by Martin and Bell.
Levenga, G.J. (Josien)
core +6 more sources
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]
, 2014 Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J +2 more
core +1 more source
Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population [PDF]
, 2013 Article focus▪ This article is a protocol of a study that involves offering fragile X syndrome carrier screening to pregnant and non-pregnant women in the general population.
Anderson, V. +14 more
core +1 more source
Fragile X syndrome and fragile X-associated disorders [PDF]
F1000Research, 2017 Fragile X syndrome (FXS) is caused by a full mutation on theFMR1gene and a subsequent lack of FMRP, the protein product ofFMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric ...
Akash Rajaratnam +5 more
openaire +2 more sources
Emerging role of the KCNT1 Slack channel in intellectual disability [PDF]
, 2014 The sodium-activated potassium KNa channels Slack and Slick are encoded by KCNT1 and KCNT2, respectively. These channels are found in neurons throughout the brain, and are responsible for a delayed outward current termed IKNa.
Grace E. Kim, Leonard K. Kaczmarek
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Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease. [PDF]
, 2020 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
Aydin, Elber Yuksel +8 more
core +2 more sources