Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
about
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesEstimation of sequencing error rates in short readsAssessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesAn inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological diseaseComprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3A systematic evaluation of hybridization-based mouse exome capture systemTarget enrichment using parallel nanoliter quantitative PCR amplification.Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichmentNext-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patientsEmpirical estimation of sequencing error rates using smoothing splinesColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.On the future of genetic risk assessment.Diagnostic Approach to Hereditary Colorectal Cancer Syndromes.Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.Carrier testing for severe childhood recessive diseases by next-generation sequencingA Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell deathA 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.Making headway with genetic diagnostics of intellectual disabilities.A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
P2860
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P2860
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
Mutation screening in 86 known ...... d massive parallel sequencing.
@en
type
label
Mutation screening in 86 known ...... d massive parallel sequencing.
@en
prefLabel
Mutation screening in 86 known ...... d massive parallel sequencing.
@en
P2093
P2860
P50
P1433
P1476
Mutation screening in 86 known ...... nd massive parallel sequencing
@en
P2093
Andreas Tzschach
Corinna Menzel
Guy Froyen
Hilger Ropers
Hugues Richard
Jamel Chelly
Klaus Wrogemann
Martine Raynaud
Melanie Bienek
P2860
P2888
P356
10.1007/S11568-010-9137-Y
P577
2009-12-01T00:00:00Z