Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. - Wikidata - wikimedia - TriplyDB

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

http://www.wikidata.org/entity/Q37373910

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48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome Fragile X syndrome: the FMR1 CGG repeat distribution among world populations XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing The PI3K signaling pathway as a pharmacological target in Autism related disorders and Schizophrenia.Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP Innovations in health and demographic surveillance systems to establish the causal impacts of HIV policies Fragile X syndrome The contribution of inhibitory interneurons to circuit dysfunction in Fragile X Syndrome The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment.The pathophysiology of fragile X (and what it teaches us about synapses)Elevated levels of the vesicular monoamine transporter and a novel repetitive behavior in the Drosophila model of fragile X syndrome Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back Functional magnetic resonance imaging in awake transgenic fragile X rats: evidence of dysregulation in reward processing in the mesolimbic/habenular neural circuit Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome Advanced technologies for the molecular diagnosis of fragile X syndrome PAK in Alzheimer disease, Huntington disease and X-linked mental retardation "How should I tell my child?" Disclosing the diagnosis of sex chromosome aneuploidies.Testis Development and Fertility Potential in Boys with Klinefelter Syndrome Progress toward therapeutic potential for AFQ056 in Fragile X syndrome.Fragile X syndrome: mechanistic insights and therapeutic avenues regarding the role of potassium channels.Use of state administrative data sources to study adolescents and young adults with rare conditions Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States Effects of a social stimulus on gene expression in a mouse model of fragile X syndrome A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome.Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences Fragile X syndrome due to a missense mutation.Modulation of the GABAergic pathway for the treatment of fragile X syndrome.Investigating word learning in fragile X syndrome: a fast-mapping study Novel methylation specific real-time PCR test for the diagnosis of Klinefelter syndrome.DNA repair/replication transcripts are down regulated in patients with Fragile X Syndrome.Cognitive Aspects of Fragile X syndrome.G quadruplex RNA structures in PSD-95 mRNA: potential regulators of miR-125a seed binding site accessibility.Parent-delivered touchscreen intervention for children with fragile X syndrome.

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Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

http://www.wikidata.org/entity/Q37373910

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on October 2009

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

@en

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

@nl

type

label

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

@en

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

@nl

prefLabel

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

@en

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

@nl

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J.AJHG.2009.09.007

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American Journal of Human Genetics

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Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

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Bradford Coffee

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Igor Albizua

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Julie Mowrey

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Krayton Keith

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Stephanie L Sherman

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Stephen T Warren

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Tamika Malone

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P2860

Klinefelter syndrome and other sex chromosomal aneuploidies

A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands

Advances in the treatment of fragile X syndrome

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

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila.

The frequency of the fragile X chromosome among schoolchildren in Coventry

X inactivation of the FMR1 fragile X mental retardation gene

FMR1 and the fragile X syndrome: human genome epidemiology review

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