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注意：仅列出部分参考文献，下载原文获取全部文献信息。Mosaicism in Fragile X syndrome: A family case series
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Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1
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CELL (2019)
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INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
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De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1
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Size and methylation mosaicism in males with Fragile X syndrome
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A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
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Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders
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Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion
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AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
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AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
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CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)
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AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2007)
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Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
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JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2004)
Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
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Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
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