Clinical features of boys with fragile X premutations and intermediate alleles. - Wikidata - wikimedia - TriplyDB

Clinical features of boys with fragile X premutations and intermediate alleles.

Clinical features of boys with fragile X premutations and intermediate alleles.

http://www.wikidata.org/entity/Q50344713

about

The fragile-X premutation: a maturing perspective.What can we learn about autism from studying fragile X syndrome?Advances in the treatment of fragile X syndrome Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder Fragile X spectrum disorders Unstable mutations in the FMR1 gene and the phenotypes The role of AGG interruptions in the transcription of FMR1 premutation alleles Fragile X: leading the way for targeted treatments in autism.CGG repeat in the FMR1 gene: size matters Fragile X: a family of disorders.Aging in individuals with the FMR1 mutation.Fibroblast phenotype in male carriers of FMR1 premutation alleles CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Broad clinical involvement in a family affected by the fragile X premutation.Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure Biomarkers in the Study of Families of Individuals with Developmental Disabilities.Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers Advances in understanding the molecular basis of FXTAS Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome Fragile X and autism: Intertwined at the molecular level leading to targeted treatments.Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice PSYCHIATRIC DISORDERS ASSOCIATED WITH FXTAS.A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis.Selective executive markers of at-risk profiles associated with the fragile X premutation.Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation.A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation.Exploring the adult life of men and women with fragile X syndrome: results from a national survey FMR1 premutation and full mutation molecular mechanisms related to autism.Myotonic dystrophy: RNA pathogenesis comes into focus.Psychosis and catatonia in fragile X: Case report and literature review.Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model Current Gaps in Understanding the Molecular Basis of FXTAS Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.

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P2860

Clinical features of boys with fragile X premutations and intermediate alleles.

http://www.wikidata.org/entity/Q50344713

description

2003 nî lūn-bûn

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年學術文章

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2003年學術文章

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name

Clinical features of boys with fragile X premutations and intermediate alleles.

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Clinical features of boys with fragile X premutations and intermediate alleles.

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type

label

Clinical features of boys with fragile X premutations and intermediate alleles.

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Clinical features of boys with fragile X premutations and intermediate alleles.

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prefLabel

Clinical features of boys with fragile X premutations and intermediate alleles.

@en

Clinical features of boys with fragile X premutations and intermediate alleles.

@nl

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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Clinical features of boys with fragile X premutations and intermediate alleles.

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P2093

Ben Oostra

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Catherine Taylor

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Eleni Stathopulu

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Jeremy Turk

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Maria Callias

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Mike Patton

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Monica Aziz

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Rob Willemsen

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119-127

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scholarly article

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10.1002/AJMG.B.20030

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1

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121B

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