Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. - Wikidata - wikimedia - TriplyDB

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

http://www.wikidata.org/entity/Q36927223

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Arts syndrome is caused by loss-of-function mutations in PRPS1 A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation High levels of MeCP2 depress MHC class I expression in neuronal cells.Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.Genetic copy number variants in sib pairs both affected with schizophrenia.Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.Cell-autonomous alterations in dendritic arbor morphology and connectivity induced by overexpression of MeCP2 in Xenopus central neurons in vivo Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.High-resolution genomic microarrays for X-linked mental retardation.XLMR genes: update 2007.NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.MECP2 mutations in males.Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases Rett syndrome: recent research progress.Distal Xq duplication and functional Xq disomy.Genomic disorders ten years on.Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.MECP2 duplication phenotype in symptomatic females: report of three further cases.Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.Infectious and immunologic phenotype of MECP2 duplication syndrome.Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.A new normalizing algorithm for BAC CGH arrays with quality control metrics.A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.MECP2 duplications in six patients with complex sex chromosome rearrangements Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.De novo paradigm: the ultimate answer to the paradox in mental retardation?Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.The MECP2 duplication syndrome.Clinical utility of the X-chromosome array.

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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

http://www.wikidata.org/entity/Q36927223

description

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Chromosomal copy number change ...... rdation detected by array CGH.

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Chromosomal copy number change ...... rdation detected by array CGH.

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Chromosomal copy number change ...... rdation detected by array CGH.

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Journal of Medical Genetics

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A P M de Brouwer

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A R Oudakker

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B B A de Vries

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B C J Hamel

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C Moraine

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C T R M Schrander-Stumpel

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H G Yntema

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J Chelly

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P2860

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

BLAT--the BLAST-like alignment tool

Detection of large-scale variation in the human genome

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis

Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene

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