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   Articles with "cgg repeat" as a keyword



Triplet-Repeat Primed PCR and Capillary Electrophoresis for Characterizing the Fragile X Mental Retardation 1 CGG Repeat Hyperexpansions.

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recommendations! 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… read more here.

Keywords: fragile mental; triplet repeat; repeat; mental retardation ... See more keywords

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China

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recommendations! 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,… read more here.

Keywords: southwestern china; report; cgg repeat; repeat expansions ... See more keywords

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.

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recommendations! 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… read more here.

Keywords: repeat; associated oculopharyngodistal; cgg repeat; repeat expansion ... See more keywords

Does theFMR1 gene affect IVF success?

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recommendations! 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… read more here.

Keywords: repeat; success; cgg; ivf ... See more keywords

Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder

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recommendations! 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… read more here.

Keywords: cgg repeat; cgg; disorder; thai patients ... See more keywords

The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility

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recommendations! Published in 2025 at "Frontiers in Endocrinology"

DOI: 10.3389/fendo.2025.1609471

Abstract: Background The aim of the present study was to investigate whether the CGG repeat length and AGG interruption patterns on the FMR1 gene affect female fecundity. Methods A total of 266 infertile patients and 276… read more here.

Keywords: repeat; infertility; cgg; cgg repeat ... See more keywords

Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

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recommendations! 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… read more here.

Keywords: repeat; cgg repeat; trinucleotide cgg; polyglycine ... See more keywords

A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in RILPL1

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recommendations! Published in 2025 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2025.1472907

Abstract: Background Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive ptosis, ophthalmoplegia, dysphagia, dysarthria, and distal muscle weakness. The genetic basis was identified in 2019 with CGG repeat expansions in the noncoding… read more here.

Keywords: repeat; expansions rilpl1; case; cgg repeat ... See more keywords

Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults

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recommendations! 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… read more here.

Keywords: repeat; number; fmr1 cgg; cgg repeat ... See more keywords