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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

http://www.wikidata.org/entity/Q34611497

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The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome Absence of strong strain effects in behavioral analyses of Shank3-deficient mice Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine Persistent Unresolved Inflammation in the Mecp2-308 Female Mutated Mouse Model of Rett Syndrome Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAs Rett Syndrome: A Focus on Gut Microbiota Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.Isoprostanes and 4-hydroxy-2-nonenal: markers or mediators of disease? Focus on Rett syndrome as a model of autism spectrum disorder.Erythrocyte shape abnormalities, membrane oxidative damage, and β-actin alterations: an unrecognized triad in classical autism.A plasma proteomic approach in Rett syndrome: classical versus preserved speech variant.Lovastatin fails to improve motor performance and survival in methyl-CpG-binding protein2-null mice Subclinical inflammatory status in Rett syndrome.Effects of ω-3 PUFAs supplementation on myocardial function and oxidative stress markers in typical Rett syndrome Inflammatory lung disease in Rett syndrome.Exploiting the potential of next-generation sequencing in genomic medicine.Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease.Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

http://www.wikidata.org/entity/Q34611497

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2013 nî lūn-bûn

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2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի փետրվարին հրատարակված գիտական հոդված

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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name

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

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Alessandra Pecorelli

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Caterina Lo Rizzo

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Cinzia Signorini

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Elisa Grillo

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Laura Bianciardi

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Lucia Ciccoli

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Margherita Baldassarri

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Maria Antonietta Mencarelli

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Ottavia Spiga

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Veronica Bizzarri

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P2860

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Transcriptional responses to oxidative stress: pathological and toxicological implications

Analysis of aldehyde oxidase and xanthine dehydrogenase/oxidase as possible candidate genes for autosomal recessive familial amyotrophic lateral sclerosis

Rett syndrome: revised diagnostic criteria and nomenclature

High-throughput functional genomics identifies genes that ameliorate toxicity due to oxidative stress in neuronal HT-22 cells: GFPT2 protects cells against peroxide

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.

Wild-type microglia arrest pathology in a mouse model of Rett syndrome.

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations

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