Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
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Fragile X-associated tremor/ataxia syndrome.Fragile X syndromeTherapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and BackMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersDetection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Phenobarbital use and neurological problems in FMR1 premutation carriersCGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA GranulesMemantine 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 StatesIntermediate 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 outgrowthAssociated features in females with an FMR1 premutationApproaches 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 spotsNovel 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 miceLanguage 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 Syndromeβ-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 carriersDevelopmental 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 siblingsAdvances 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.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
@ast
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
@en
type
label
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
@ast
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
@en
prefLabel
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
@ast
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
@en
P2093
P2860
P356
P1476
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
@en
P2093
Daniel Mandel
Jan Greenberg
Jinkuk Hong
Matthew Maenner
Mei Wang Baker
P2860
P304
P356
10.1002/AJMG.B.32065
P577
2012-05-22T00:00:00Z