about
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityMutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationNonsense-mediated mRNA decay: inter-individual variability and human diseaseLoss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disabilityContribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.CCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityMutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiologyA nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.Rare copy number variation in cerebral palsy.The emerging roles of MicroRNAs in autism spectrum disorders.A UPF3-mediated regulatory switch that maintains RNA surveillance.HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Lam S Nguyen
@en
Lam S Nguyen
@es
Lam S Nguyen
@nl
Lam S Nguyen
@sl
type
label
Lam S Nguyen
@en
Lam S Nguyen
@es
Lam S Nguyen
@nl
Lam S Nguyen
@sl
prefLabel
Lam S Nguyen
@en
Lam S Nguyen
@es
Lam S Nguyen
@nl
Lam S Nguyen
@sl
P106
P31
P496
0000-0002-0114-1222