The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
about
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.Clinical and molecular phenotype of Aicardi-Goutieres syndromeExpanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleasesAicardi-Goutières syndrome and the type I interferonopathies.Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expressionFamilial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.Therapies in Aicardi-Goutières syndrome.Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.Type I interferonopathies--an expanding disease spectrum of immunodysregulation.Monogenic Lupus.Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases.Regression of white matter hypodensities with age in Aicardi-Goutierés syndrome: a case report.Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?Aicardi-Goutieres syndrome in siblings.Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Aicardi-Goutières Syndrome: Brief Case Report.
P2860
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P2860
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
description
1995 nî lūn-bûn
@nan
1995 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
The Aicardi-Goutières syndrome ...... brospinal fluid lymphocytosis)
@nl
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@ast
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@en
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@en-gb
type
label
The Aicardi-Goutières syndrome ...... brospinal fluid lymphocytosis)
@nl
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@ast
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@en
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@en-gb
prefLabel
The Aicardi-Goutières syndrome ...... brospinal fluid lymphocytosis)
@nl
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@ast
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@en
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@en-gb
P2093
P2860
P356
P1476
The Aicardi-Goutières syndrome ...... rospinal fluid lymphocytosis).
@en
P2093
Hughes-Benzie R
Shillito P
Stephenson JB
P2860
P304
P356
10.1136/JMG.32.11.881
P407
P577
1995-11-01T00:00:00Z