Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. - Wikidata - awgldk - TriplyDB

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

http://www.wikidata.org/entity/Q33527737

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Fragile X syndrome: the FMR1 CGG repeat distribution among world populations Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Advanced technologies for the molecular diagnosis of fragile X syndrome Modeling fragile X syndrome in the Fmr1 knockout mouse FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States IVF for premature ovarian failure: first reported births using oocytes donated from a twin sister.FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.Clinical and molecular implications of mosaicism in FMR1 full mutations.Mass spectrometry as a tool for studying autism spectrum disorder.FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubert The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Fragile X protein in newborn dried blood spots Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.Neurological and endocrine phenotypes of fragile X carrier women.Fear-specific amygdala function in children and adolescents on the fragile x spectrum: a dosage response of the FMR1 gene.Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females.DNA methylation as a biomarker for neuropsychiatric diseases.Emerging Roles for Long Non-Coding RNAs in Cancer and Neurological Disorders.The finger of an angel: memory return with epigenetic manipulation.Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.Fragile X carrier screening in Korean women of reproductive age.FXN methylation predicts expression and clinical outcome in Friedreich ataxia.Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males.Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.A pilot proteomic study of protein markers in autism spectrum disorder.splice variant: A predictor of fragile X-associated tremor/ataxia syndrome

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P2860

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

http://www.wikidata.org/entity/Q33527737

description

2010 nî lūn-bûn

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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2010 թվականի հունվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Methylation of novel markers o ...... ion and FMR1 activation ratio.

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Methylation of novel markers o ...... ion and FMR1 activation ratio.

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Methylation of novel markers o ...... ion and FMR1 activation ratio.

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Methylation of novel markers o ...... ion and FMR1 activation ratio.

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Methylation of novel markers o ...... ion and FMR1 activation ratio.

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Methylation of novel markers o ...... ion and FMR1 activation ratio.

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Methylation of novel markers o ...... ion and FMR1 activation ratio.

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Methylation of novel markers o ...... ion and FMR1 activation ratio.

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Human Molecular Genetics

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Methylation of novel markers o ...... ion and FMR1 activation ratio.

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P2093

Andrew Evans

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Annette Kimball Taylor

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Danuta Zuzanna Loesch

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Debbie Hennerich

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Flora Tassone

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Freya Gehling

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Howard Robert Slater

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K H Choo

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Lavinia Gordon

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Randi Jenssen Hagerman

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P2860

A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome

The GATA2 transcription factor negatively regulates the proliferation of neuronal progenitors

Comprehensive analysis of CpG islands in human chromosomes 21 and 22

Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of

Advances in the treatment of fragile X syndrome

Functional demarcation of active and silent chromatin domains in human HOX loci by noncoding RNAs

CpG islands in vertebrate genomes

Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome

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1618-1632

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10.1093/HMG/DDQ037

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8

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19

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Devika Ganesamoorthy

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2010-01-29T00:00:00Z

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41191204

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20118148

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2846165

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