XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.
about
DNA methylation in mammalsReversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.Clinical impacts of genomic copy number gains at Xq28Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.MECP2 Duplication SyndromeXq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationMeCP2 as a genome-wide modulator: the renewal of an old story.A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.Lack of IL-1R8 in neurons causes hyperactivation of IL-1 receptor pathway and induces MECP2-dependent synaptic defectsLessons learned from studying syndromic autism spectrum disorders.Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.Infectious and immunologic phenotype of MECP2 duplication syndrome.
P2860
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P2860
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.
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
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-hant
name
XLMR syndrome characterized by ...... eath localizes to distal Xq28.
@en
XLMR syndrome characterized by ...... eath localizes to distal Xq28.
@nl
type
label
XLMR syndrome characterized by ...... eath localizes to distal Xq28.
@en
XLMR syndrome characterized by ...... eath localizes to distal Xq28.
@nl
prefLabel
XLMR syndrome characterized by ...... eath localizes to distal Xq28.
@en
XLMR syndrome characterized by ...... eath localizes to distal Xq28.
@nl
P2093
P2860
P1476
XLMR syndrome characterized by ...... eath localizes to distal Xq28.
@en
P2093
Schwartz CE
Stevenson RE
P2860
P304
P356
10.1002/(SICI)1096-8628(19990730)85:3<243::AID-AJMG11>3.0.CO;2-E
P577
1999-07-01T00:00:00Z