Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. - Test2 - elhamkhani - TriplyDB

Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

http://www.wikidata.org/entity/Q36082674

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Fragile X-associated tremor/ataxia syndrome.Fragile X syndrome Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Phenobarbital use and neurological problems in FMR1 premutation carriers CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study.Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth Associated features in females with an FMR1 premutation Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.Low-normal FMR1 CGG repeat length: phenotypic associations.New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.Distribution of AGG interruption patterns within nine world populations.Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses.Fragile X protein in newborn dried blood spots Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.Fragile X Syndrome: Scientific Background and Screening Technologies.Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial.Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice Language dysfluencies in females with the FMR1 premutation.Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.Neurological and endocrine phenotypes of fragile X carrier women.Pragmatic Language Features of Mothers With the FMR1 Premutation Are Associated With the Language Outcomes of Adolescents and Young Adults With Fragile X Syndrome β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.Developmental and behavioral pediatricians' attitudes toward screening for fragile X.Prevalence and risk of migraine headaches in adult fragile X premutation carriers Developmental profiles of infants with an FMR1 premutation.FMR1 CGG expansions: prevalence and sex ratios.A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.Executive Functioning Mediates the Effect of Behavioral Problems on Depression in Mothers of Children With Developmental Disabilities.FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.

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P2860

Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

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Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

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Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

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Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

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Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

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Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

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Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

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Daniel Mandel

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P2860

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

The CES-D Scale: A Self-Report Depression Scale for Research in the General Population

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

Quality and quantity of saliva DNA obtained from the self-administrated oragene method--a pilot study on the cohort of Swedish men

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.

Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

FMR1 and the fragile X syndrome: human genome epidemiology review

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225041970

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3391968

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