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ICF syndrome

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiencyCentromeric Instability Immunodeficiency Syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "ICF syndrome" returned 3 free, full-text review articles. First few results:
Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome.
Last Updated: Nov 21, 2008

Spatial organisation of DNA into chromatin profoundly affects gene expression and function. The recent association of genes controlling chromatin structure to human pathologies resulted in a better comprehension of the interplay between regulation and function. Among many chromatin ...

ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation.
Last Updated: Nov 13, 2018

The immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF) is the only disease known to result from a mutated DNA methyltransferase gene, namely, DNMT3B. Characteristic of this recessive disease are decreases in serum immunoglobulins despite the presence ...

A systematic review of outcomes assessed in randomized controlled trials of surgical interventions for carpal tunnel syndrome using the International Classification of Functioning, Disability and Health (ICF) as a reference tool.
Last Updated: Dec 01, 2018

A wide range of outcomes have been assessed in trials of interventions for carpal tunnel syndrome (CTS), however there appears to be little consensus on what constitutes the most relevant outcomes. The purpose of this systematic review was to identify the outcomes assessed in randomized ...

Full PubMed Review articles matches at NCBI:
3 Free Review Articles 7 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "ICF syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "ICF syndrome" returned 23 free, full-text research articles. First few results:
Clinical and Immunological Characterization of ICF Syndrome in Japan.
Last Updated: Sep 30, 2019

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive primary immunodeficiency. Hypogammaglobulinemia is a major manifestation of ICF syndrome, but immunoglobulin replacement therapy does not seem to be effective for some ICF ...

HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome.
Last Updated: Nov 13, 2018

Mutations in CDCA7, the SNF2 family protein HELLS (LSH), or the DNA methyltransferase DNMT3b cause immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. While it has been speculated that DNA methylation defects cause this disease, little is known about the molecular ...

Full PubMed Research articles matches at NCBI:
23 Free Research Articles 68 Research Articles