Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.
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Summary
It is concluded that immunodeficiency, centromeric heterochromatin instability, and facial anomalies form a new syndrome, for which the acronym ICF is proposed, which is postulated as the basic chromosome defect in this syndrome.
- Type
- article
- Published
- 1988-03-01
- Cited by
- 142
- References
- 16
- Access
- Open access
- OpenAlex
- https://openalex.org/W2012955490
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:29703921
Keywords
Heterochromatin, Genetics, Biology, Chromosome instability, Chromosome
References
- Patterns of DNA replication of human chromosomes. II. Replication map and replication model.
- Distribution of mitomycin C induced breaks on human chromosomes.
- A direct demonstration of somatically paired heterochromatin of human chromosomes.
- Refractometry of tissue sections by phase-contrast microscopy.
- 5-Methylcytosine localised in mammalian constitutive heterochromatin
- Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.
- A gene controlling condensation of heterochromatin in Drosophila melanogaster.
Cited by
- Immunodeficiency as a component of recognizable syndromes.
- Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis
- Rett Syndrome: Review of Biological Abnormalities
- DNA methylation and cancer-associated genetic instability.
- DNA Hypomethylation in Radiosensitivity and Genomic Stability
- Integrated bioinformatics analysis of epigenomic and transcriptomic data from ICF syndrome patient's cells
- Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
- Genomic characterization of chromosome 8 pericentric trisomy
- Methods for Cancer Epigenome Analysis
- Primary deficiencies of B and T lymphocytes: molecular basis and clinical aspects.
- Increased bleomycin-induced chromosome damage in lymphocytes of patients with common variable immunodeficiency indicates an involvement of chromosomal instability in their cancer predisposition
- Human genetics: Methylation moves into medicine
- Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome
- Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients
- Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3
- The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease.
- icf-syndroom: klinisch en genetisch onderzoek
- Transcriptional derepression as a cause of genetic diseases.
- Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor
- Genome-scale DNA methylation analysis
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