A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation - Test2 - elhamkhani - TriplyDB

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

http://www.wikidata.org/entity/Q24613870

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient In-silico human genomics with GeneCards Genetics of cognition in epilepsy Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation The molecular basis of the Caskin1 and Mint1 interaction with CASK Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth Medicine. The future of psychiatric research: genomes and neural circuits XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing Massively parallel sequencing: the next big thing in genetic medicine Advances in understanding - genetic basis of intellectual disability The iTRAPs: Guardians of Synaptic Vesicle Cargo Retrieval During Endocytosis The Involvement of Neuron-Specific Factors in Dendritic Spinogenesis: Molecular Regulation and Association with Neurological Disorders CASK and CaMKII function in Drosophila memory La FAM fatale: USP9X in development and disease Tspyl2 Loss-of-Function Causes Neurodevelopmental Brain and Behavior Abnormalities in Mice.Complexity and diversity of F8 genetic variations in the 1000 genomes Tandem SAM Domain Structure of Human Caskin1: A Presynaptic, Self-Assembling Scaffold for CASK eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability Developing and applying the adverse outcome pathway concept for understanding and predicting neurotoxicity Synaptophysin regulates the kinetics of synaptic vesicle endocytosis in central neurons Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease 'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care Evolutionary genomics of human intellectual disability Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting Exome sequencing of a multigenerational human pedigree Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures Comparative analysis of Neph gene expression in mouse and chicken development Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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2009 nî lūn-bûn

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2009 թվականի մայիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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A systematic, large-scale rese ...... ng exons in mental retardation

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A systematic, large-scale rese ...... ng exons in mental retardation

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A systematic, large-scale rese ...... ng exons in mental retardation

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A systematic, large-scale rese ...... ng exons in mental retardation

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A systematic, large-scale rese ...... ng exons in mental retardation

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A systematic, large-scale rese ...... ng exons in mental retardation

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A systematic, large-scale rese ...... ng exons in mental retardation

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A systematic, large-scale rese ...... ng exons in mental retardation

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Nature Genetics

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Adam Butler

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Alison Gardner

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Anand K Srivastava

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Anna Hackett

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Arjan P M de Brouwer

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Claire Hardy

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P2860

How malaria has affected the human genome and what human genetics can teach us about malaria

Rate of evolution in brain-expressed genes in humans and other primates

The DNA sequence of the human X chromosome

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes

Speeding disease gene discovery by sequence based candidate prioritization

DnaSP, DNA polymorphism analyses by the coalescent and other methods

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10.1038/NG.367

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5

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41

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Chris Tyler-Smith

Hans-Hilger Ropers

Hans van Bokhoven

Martine Raynaud

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2009-05-01T00:00:00Z

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2872007

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