Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
about
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesFragile X syndrome: the FMR1 CGG repeat distribution among world populationsUnstable mutations in the FMR1 gene and the phenotypesThe role of AGG interruptions in fragile X repeat expansions: a twenty-year perspectiveStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneAdvanced technologies for the molecular diagnosis of fragile X syndromeEvidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome.Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.Low-normal FMR1 CGG repeat length: phenotypic associations.An n-allele model for progressive amplification in the FMR1 locusFMR1 and the fragile X syndrome: human genome epidemiology reviewReduced FMR1 mRNA translation efficiency in fragile X patients with premutations.FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.The pur protein family: genetic and structural features in development and disease.Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments.Autism-lessons from the X chromosome.Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disordersGender-specific effect of Mthfr genotype and neonatal vigabatrin interaction on synaptic proteins in mouse cortexDifferent mechanisms underlie DNA instability in Huntington disease and colorectal cancerFragile X premutations are not a major cause of early menopause.Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.Quantitative comparison of FMR1 gene expression in normal and premutation allelesExpansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.Population dynamics of a meiotic/mitotic expansion model for the fragile X syndromeThe fragile X premutation in carriers and its effect on mutation size in offspringFragile X gene instability: anchoring AGGs and linked microsatellitesFamilial transmission of the FMR1 CGG repeat.Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families.Carrier screening in preconception consultation in primary care.Genome-wide approaches to dissect the roles of RNA binding proteins in translational control: implications for neurological diseasesHPA axis function predicts development of working memory in boys with FXSInvestigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers.The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritanceDepression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms.Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature.Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome.Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population.
P2860
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P2860
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Analysis of a CGG sequence at ...... and in the general population.
@ast
Analysis of a CGG sequence at ...... and in the general population.
@en
type
label
Analysis of a CGG sequence at ...... and in the general population.
@ast
Analysis of a CGG sequence at ...... and in the general population.
@en
prefLabel
Analysis of a CGG sequence at ...... and in the general population.
@ast
Analysis of a CGG sequence at ...... and in the general population.
@en
P2093
P2860
P1476
Analysis of a CGG sequence at ...... and in the general population.
@en
P2093
R G Pergolizzi
R Hagerman
S H Erster
S N Thibodeau
P2860
P304
P407
P577
1993-12-01T00:00:00Z