Contribution of the FMR1 gene mutation to human intellectual dysfunction. - Wikidata - wikimedia - TriplyDB

Contribution of the FMR1 gene mutation to human intellectual dysfunction.

Contribution of the FMR1 gene mutation to human intellectual dysfunction.

http://www.wikidata.org/entity/Q52012797

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What can we learn about autism from studying fragile X syndrome?Striatal Circuits as a Common Node for Autism Pathophysiology Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets Molecular and cellular genetics of fragile X syndrome.Exceptional memory performance in the Long Life Family Study.Autism spectrum disorder in children and adolescents with fragile X syndrome: within-syndrome differences and age-related changes.Advances in research on the fragile X syndrome.Neurobehavioral phenotype of Klinefelter syndrome.C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Multivariate longitudinal shape analysis of human lateral ventricles during the first twenty-four months of life.The hunt for gene effects pertinent to behavioral traits and psychiatric disorders: from mouse to human.Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.Increasing our understanding of human cognition through the study of Fragile X Syndrome.A converging-methods approach to fragile X syndrome.Maternal responsivity predicts language development in young children with fragile X syndrome.Is child intelligence associated with parent and sibling intelligence in individuals with developmental disorders? An investigation in youth with 22q11.2 deletion (velo-cardio-facial) syndrome.A developmental approach to understanding Fragile X syndrome in females.Longitudinal changes in intellectual development in children with Fragile X syndrome.Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome.Resolution of spatial and temporal visual attention in infants with fragile X syndrome.Absence of metabotropic glutamate receptor-mediated plasticity in the neocortex of fragile X mice.Mental status of females with an FMR1 gene full mutation High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters.Shared deficits in space, time, and quantity processing in childhood genetic disorders Aberrant neural function during emotion attribution in female subjects with fragile X syndrome.Moving Toward Integrative, Multidimensional Research in Modern Psychiatry: Lessons Learned From Fragile X Syndrome Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression.Chronological age, but not FMRP levels, predicts neuropsychological performance in girls with fragile X syndrome.Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes.A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome.The neural basis of auditory temporal discrimination in girls with fragile X syndrome.A neurodevelopmental perspective on the acquisition of nonverbal cognitive skills in adolescents with fragile X syndrome.The challenges of clinical trials in fragile X syndrome.Heads-up: new roles for the fragile X mental retardation protein in neural stem and progenitor cells.Fragile X-associated disorders: a clinical overview.Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion.Family environment and cognitive abilities in girls with fragile-X syndrome.Screening for fragile X syndrome: information needs for health planners.Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts.Preliminary evidence for a cognitive phenotype in Barth syndrome.

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P2860

Contribution of the FMR1 gene mutation to human intellectual dysfunction.

http://www.wikidata.org/entity/Q52012797

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1995 nî lūn-bûn

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1995年学术文章

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1995年學術文章

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1995年學術文章

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Contribution of the FMR1 gene mutation to human intellectual dysfunction.

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Contribution of the FMR1 gene mutation to human intellectual dysfunction.

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type

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Contribution of the FMR1 gene mutation to human intellectual dysfunction.

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Contribution of the FMR1 gene mutation to human intellectual dysfunction.

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prefLabel

Contribution of the FMR1 gene mutation to human intellectual dysfunction.

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Contribution of the FMR1 gene mutation to human intellectual dysfunction.

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Nature Genetics

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Contribution of the FMR1 gene mutation to human intellectual dysfunction.

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Abrams MT

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Baumgardner TL

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Denckla MB

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Freund LS

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Reiss AL

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P2860

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation

Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome.

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene.

Study of final height in Turner's syndrome: ethnic and genetic influences.

Absence of expression of the FMR-1 gene in fragile X syndrome.

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

Neurodevelopmental effects of the FMR-1 full mutation in humans.

Molecular-neurobehavioral associations in females with the fragile X full mutation.

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