Fragile X genotype characterized by an unstable region of DNA.
about
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2FXR1, an autosomal homolog of the fragile X mental retardation geneSimple tandem DNA repeats and human genetic diseaseTechnical 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 ofFragile X mental retardation protein is translated near synapses in response to neurotransmitter activationA unified genetic theory for sporadic and inherited autismEpigenetics and Triplet-Repeat Neurological DiseasesFragile X and X-linked intellectual disability: four decades of discoveryExpansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneThe role of AGG interruptions in the transcription of FMR1 premutation allelesThe fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiologyCGG repeat in the FMR1 gene: size mattersMethylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Molecular and cellular genetics of fragile X syndrome.Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk.Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotypeDynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.The impact of genetic counselling on females in fragile X families.Cloning of the gene for the fragile X syndrome: implications for the clinical geneticistMolecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel)Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation proteinInterruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structuresUnusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.FRAXF in a patient with chromosome 8 duplicationVariable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.Fragile X syndrome is less common than previously estimated.DNA testing for fragile X syndrome: implications for parents and family.X inactivation of the FMR1 fragile X mental retardation geneMolecular genetic analysis of mentally retarded males with features of the fragile-X syndrome.Standards for selected anthropometric measurements in males with the fragile X syndrome.Advances in understanding the molecular basis of FXTASGroup I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome.Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism.Advances in research on the fragile X syndrome.Associated features in females with an FMR1 premutationFragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome
P2860
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P2860
Fragile X genotype characterized by an unstable region of DNA.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh
1991年學術文章
@zh-hant
name
Fragile X genotype characterized by an unstable region of DNA.
@en
Fragile X genotype characterized by an unstable region of DNA.
@nl
type
label
Fragile X genotype characterized by an unstable region of DNA.
@en
Fragile X genotype characterized by an unstable region of DNA.
@nl
prefLabel
Fragile X genotype characterized by an unstable region of DNA.
@en
Fragile X genotype characterized by an unstable region of DNA.
@nl
P2093
P1433
P1476
Fragile X genotype characterized by an unstable region of DNA.
@en
P2093
Nancarrow J
Pritchard M
Schlessinger D
P304
P356
10.1126/SCIENCE.252.5009.1179
P407
P577
1991-05-01T00:00:00Z