Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data
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Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutationThe fragile-X premutation: a maturing perspective.Microdeletions in FMR2 may be a significant cause of premature ovarian failureGenetics of primary ovarian insufficiency: new developments and opportunitiesThe genetic basis of female reproductive disorders: etiology and clinical testingUnstable mutations in the FMR1 gene and the phenotypesDevelopment of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion MutationsStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneThe genetics of premature ovarian failure: current perspectivesThe fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiologyFMR1 CGG Repeats: Reference Levels and Race-Ethnic Variation in Women With Normal Fertility (Study of Women's Health Across the Nation).CGG repeat in the FMR1 gene: size mattersMethylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndromeAssociation of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.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.Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failurePsychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative trait loci influencing variation in human menopausal age.Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonismA simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI).Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutationsElevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome.Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial.
P2860
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P2860
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data
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1999 nî lūn-bûn
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1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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1999 թվականի ապրիլին հրատարակված գիտական հոդված
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1999年の論文
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1999年学术文章
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1999年学术文章
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1999年学术文章
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1999年学术文章
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1999年学术文章
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1999年學術文章
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Fragile X premutation is a sig ...... gile X study--preliminary data
@ast
Fragile X premutation is a sig ...... gile X study--preliminary data
@en
type
label
Fragile X premutation is a sig ...... gile X study--preliminary data
@ast
Fragile X premutation is a sig ...... gile X study--preliminary data
@en
prefLabel
Fragile X premutation is a sig ...... gile X study--preliminary data
@ast
Fragile X premutation is a sig ...... gile X study--preliminary data
@en
P2093
P2860
P356
P1476
Fragile X premutation is a sig ...... gile X study--preliminary data
@en
P2093
A Glicksman
A M Vianna-Morgante
D Chitayat
D J Allingham-Hawkins
E C Jenkins
E Cummings
P2860
P304
P356
10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO;2-B
10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.3.CO;2-2
P577
1999-04-01T00:00:00Z