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Colombia medica (Cali, Colombia), 2014 Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián +5 more
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Scheduled feeding improves behavioral outcomes and reduces inflammation in a mouse model of Fragile X syndrome [PDF]
ElifeHuei‐Bin Wang +10 more
openalex +2 more sources
European Journal of Human Genetics, 2008 Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5 ...
Kathryn B, Garber +2 more
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Current Genomics, 2011 Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in males and the most common single gene cause of autism.
McLennan, Yingratana +3 more
openaire +5 more sources
Current Problems in Pediatrics, 1987 The fragile X syndrome is the most common inherited form of mental retardation known. Its phenotype includes large or prominent ears, macroorchidism, and characteristic behavioral problems. It has attracted the interest of cytogeneticists and molecular biologists because of its characteristic fragile site on the X chromosome. It has puzzled geneticists
A E, Chudley, R J, Hagerman
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Fragile X syndrome in children [PDF]
Colombia Medica, 2023 Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities.
David O. Acero-Garcés +4 more
openaire +3 more sources
Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. [PDF]
, 2018 To uncover the circuit-level alterations that underlie atypical sensory processing associated with autism, we adopted a symptom-to-circuit approach in the Fmr1-knockout (Fmr1-/-) mouse model of Fragile X syndrome.
A Contractor +53 more
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A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]
, 2004 Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
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Manifestaciones neurológicas en el adulto con premutación X frágil [PDF]
, 2010 Introduction: Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats.
Cabanyes-Truffin, J. (J.)
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Developmental aspects of FXAND in a man with the FMR1 premutation. [PDF]
, 2020 BackgroundFragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD).
Emeka-Nwonovo, Chinelo +6 more
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