Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.
about
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis.Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for DiseasesMethylation mattersDifferential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.ICF syndrome with variable expression in sibs.Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome.Methods for cancer epigenome analysis.Genome-scale DNA methylation analysisPatterns and possible roles of LINE-1 methylation changes in smoke-exposed epithelia.Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).Educational paper: syndromic forms of primary immunodeficiencyMutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.Long interspersed nuclear element-1 hypomethylation in cancer: biology and clinical applications.ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulationFISH analysis on spontaneously arising micronuclei in the ICF syndrome.Genomic characterization of chromosome 8 pericentric trisomy.Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor
P2860
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P2860
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.
description
1988 nî lūn-bûn
@nan
1988 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի մարտին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Immunodeficiency, centromeric ...... l anomalies: the ICF syndrome.
@ast
Immunodeficiency, centromeric ...... l anomalies: the ICF syndrome.
@en
type
label
Immunodeficiency, centromeric ...... l anomalies: the ICF syndrome.
@ast
Immunodeficiency, centromeric ...... l anomalies: the ICF syndrome.
@en
prefLabel
Immunodeficiency, centromeric ...... l anomalies: the ICF syndrome.
@ast
Immunodeficiency, centromeric ...... l anomalies: the ICF syndrome.
@en
P2093
P2860
P356
P1476
Immunodeficiency, centromeric ...... al anomalies: the ICF syndrome
@en
P2093
O Zuffardi
P Maraschio
T Dalla Fior
P2860
P304
P356
10.1136/JMG.25.3.173
P407
P577
1988-03-01T00:00:00Z