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Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-9213-3_14
Abstract: Fragile X mental retardation 1 (FMR1) CGG repeat expansions cause fragile X syndrome-the leading monogenic form of intellectual disability-and increase the risk for fragile X-associated tremor ataxia syndrome and fragile X-associated primary ovarian insufficiency. Southern…
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Keywords:
fragile mental;
triplet repeat;
repeat;
mental retardation ... See more keywords
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3
Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-022-06005-y
Abstract: Oculopharyngodistal myopathy (OPDM) is a rare adult-onset hereditary muscular disease characterized by slowly progressive ptosis, external ophthalmoplegia and weakness of the facial, pharyngeal and distal limb muscles. Recently, CGG repeat expansion mutations in three genes,…
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Keywords:
southwestern china;
report;
cgg repeat;
repeat expansions ... See more keywords
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2
Published in 2022 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2022.01.012
Abstract: Recent studies indicate that CGG repeat expansions in LRP12, GIPC1, and NOTCH2NLC are associated with oculopharyngodistal myopathy (OPDM) types 1, 2, and 3, respectively. However, some clinicopathologically confirmed OPDM cases continue to have unknown genetic…
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Keywords:
repeat;
associated oculopharyngodistal;
cgg repeat;
repeat expansion ... See more keywords
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1
Published in 2019 at "Reproductive biomedicine online"
DOI: 10.1016/j.rbmo.2018.11.009
Abstract: FMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear. The effect of FMR1…
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Keywords:
repeat;
success;
cgg;
ivf ... See more keywords
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1
Published in 2021 at "BioMed Research International"
DOI: 10.1155/2021/4359308
Abstract: Autism spectrum disorder (ASD) is a complex disorder with a heterogeneous etiology. Fragile X syndrome (FXS) is recognized as the most common single gene mutation associated with ASD. FXS patients show some autistic behaviors and…
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Keywords:
cgg repeat;
cgg;
disorder;
thai patients ... See more keywords
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3
Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.843014
Abstract: Microsatellites are repeated DNA sequences of 3–6 nucleotides highly variable in length and sequence and that have important roles in genomes regulation and evolution. However, expansion of a subset of these microsatellites over a threshold…
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Keywords:
repeat;
cgg repeat;
trinucleotide cgg;
polyglycine ... See more keywords
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Published in 2021 at "Frontiers in Psychiatry"
DOI: 10.3389/fpsyt.2021.727085
Abstract: FMR1 CGG repeat length was assayed in 5499 research participants (2637 men and 2862 women) in the Wisconsin Longitudinal Study (WLS), a population-based cohort. Most past research has focused on clinically-ascertained individuals with expansions in…
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Keywords:
repeat;
number;
fmr1 cgg;
cgg repeat ... See more keywords