Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. - Wikidata - wikimedia - TriplyDB

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

http://www.wikidata.org/entity/Q37408049

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Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Genome destabilization by homologous recombination in the germ line Male gender bias in autism and pediatric autoimmunity FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation Continuous Spikes and Waves during Sleep: Electroclinical Presentation and Suggestions for Management.Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?Autism in two females with duplications involving Xp11.22-p11.23.DNA recombination. Recombination initiation maps of individual human genomes.Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors.Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders.Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.Identification of sex-specific DNA methylation changes driven by specific chemicals in cord blood in a Faroese birth cohort Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

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Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

http://www.wikidata.org/entity/Q37408049

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 27 August 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Complex segmental duplications ...... nomalies in males and females.

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Complex segmental duplications ...... nomalies in males and females.

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type

label

Complex segmental duplications ...... nomalies in males and females.

@en

Complex segmental duplications ...... nomalies in males and females.

@nl

prefLabel

Complex segmental duplications ...... nomalies in males and females.

@en

Complex segmental duplications ...... nomalies in males and females.

@nl

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J.AJHG.2009.08.001

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American Journal of Human Genetics

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Complex segmental duplications ...... nomalies in males and females.

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Bernardo dalla Bernardina

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Bruno Leheup

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Claudia Torniero

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Claudio Zucca

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Daniela Di Benedetto

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Freddie H Sharkey

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Girolamo A Vitello

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Graeme Black

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Isabella Fiocchi

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Jill Clayton-Smith

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Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

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Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.

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3

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