Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.
about
The fragile-X premutation: a maturing perspective.Fragile X syndrome: the FMR1 CGG repeat distribution among world populationsAdvances in the treatment of fragile X syndromeUnstable mutations in the FMR1 gene and the phenotypesThe role of AGG interruptions in the transcription of FMR1 premutation allelesResilience to audiogenic seizures is associated with p-ERK1/2 dephosphorylation in the subiculum of Fmr1 knockout mice.A review of fragile X premutation disorders: expanding the psychiatric perspectivePolymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene.Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatmentEvidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Studies of FRAXA and FRAXE in women with premature ovarian failure.Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriersIn 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.Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screeningLifespan changes in working memory in fragile X premutation males.Fragile X syndrome. Molecular and clinical insights and treatment issuesPenetrance of FMR1 premutation associated pathologies in fragile X syndrome families.Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.Genes and genetic testing in hereditary ataxias.FMR1 and the fragile X syndrome: human genome epidemiology reviewReduced FMR1 mRNA translation efficiency in fragile X patients with premutations.Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.The FMR1 gene and fragile X-associated tremor/ataxia syndrome.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotypeScreening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study GroupFragile X premutations are not a major cause of early menopause.Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation.Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.Mutation rate in the hypervariable VNTR g3 (D7S22) is affected by allele length and a flanking DNA sequence polymorphism near the repeat array.Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.
P2860
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P2860
Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Prevalence of carriers of prem ...... ics of the fragile X syndrome.
@ast
Prevalence of carriers of prem ...... ics of the fragile X syndrome.
@en
type
label
Prevalence of carriers of prem ...... ics of the fragile X syndrome.
@ast
Prevalence of carriers of prem ...... ics of the fragile X syndrome.
@en
prefLabel
Prevalence of carriers of prem ...... ics of the fragile X syndrome.
@ast
Prevalence of carriers of prem ...... ics of the fragile X syndrome.
@en
P2093
P2860
P1476
Prevalence of carriers of prem ...... tics of the fragile X syndrome
@en
P2093
E W Khandjian
F Rousseau
P Rouillard
P2860
P304
P407
P577
1995-11-01T00:00:00Z