Postmortem examination of two fragile X brothers with an FMR1 full mutation.
about
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersThe fragile X gene and its functionPotential therapeutic interventions for fragile X syndromeAbnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.Advances in research on the fragile X syndrome.Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.Synaptic regulation of protein synthesis and the fragile X protein.Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissuesA converging-methods approach to fragile X syndrome.Fragile X mental retardation protein in plasticity and disease.The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach.Repeat instability: mechanisms of dynamic mutations.The role of glycogen synthase kinase-3 signaling in neurodevelopment and fragile X syndromeInstability and chromatin structure of expanded trinucleotide repeatsThe DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells.Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome.Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells.Analysis of FMR1 deletion in a subpopulation of post-mitotic neurons in mouse cortex and hippocampus.Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.Clinical involvement and protein expression in individuals with the FMR1 premutation.Of Men and Mice: Modeling the Fragile X Syndrome.
P2860
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P2860
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh
1999年學術文章
@zh-hant
name
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
@en
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
@nl
type
label
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
@en
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
@nl
prefLabel
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
@en
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
@nl
P2093
P2860
P1476
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
@en
P2093
Reyniers E
Van Marck E
Willems PJ
P2860
P304
P356
10.1002/(SICI)1096-8628(19990528)84:3<245::AID-AJMG16>3.0.CO;2-U
P50
P577
1999-05-01T00:00:00Z