High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. - Wikidata - awgldk - TriplyDB

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

http://www.wikidata.org/entity/Q39111846

about

Unstable mutations in the FMR1 gene and the phenotypes Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Advanced technologies for the molecular diagnosis of fragile X syndrome The fragile X gene and its function Methylation-dependent gene silencing induced by interleukin 1beta via nitric oxide production Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Molecular and cellular genetics of fragile X syndrome.FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.Biology of the fragile X mental retardation protein, an RNA-binding protein.iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.Advances in research on the fragile X syndrome.FMR1 gene and fragile X syndrome.Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Fragile X syndrome. Molecular and clinical insights and treatment issues Clinical and molecular implications of mosaicism in FMR1 full mutations.Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome.Trinucleotide expansion in disease: why is there a length threshold?Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells.An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene Reading and phonological skills in boys with fragile X syndrome Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.FMR1 premutation and full mutation molecular mechanisms related to autism.Treatment effects of stimulant medication in young boys with fragile X syndrome Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.A dual-mode single-molecule fluorescence assay for the detection of expanded CGG repeats in Fragile X syndrome.High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters.

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P2860

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

http://www.wikidata.org/entity/Q39111846

description

1994 nî lūn-bûn

@nan

1994年の論文

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1994年論文

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1994年論文

@zh-hant

1994年論文

@zh-hk

1994年論文

@zh-mo

1994年論文

@zh-tw

1994年论文

@wuu

1994年论文

@zh

1994年论文

@zh-cn

name

High functioning fragile X mal ...... iated with protein expression.

@en

High functioning fragile X mal ...... iated with protein expression.

@nl

type

label

High functioning fragile X mal ...... iated with protein expression.

@en

High functioning fragile X mal ...... iated with protein expression.

@nl

prefLabel

High functioning fragile X mal ...... iated with protein expression.

@en

High functioning fragile X mal ...... iated with protein expression.

@nl

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P2860

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P356

AJMG.1320510404

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American Journal of Medical Genetics Part A

P1476

High functioning fragile X mal ...... iated with protein expression.

@en

P2093

Carpenter I

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Hagerman RJ

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Hull CE

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Mazzocco MM

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O'Connor RA

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Safanda JF

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Seydel C

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Snow K

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Staley LW

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Thibodeau SN

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P2860

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence.

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome).

P304

298-308

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scholarly article

P356

10.1002/AJMG.1320510404

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4

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51

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1994-07-01T00:00:00Z

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7942991

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