ReviewHuman genetics1994
ICF syndrome: a new case and review of the literature.
Review in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 112 citations in OpenAlex.
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- Molecular mechanisms for DNA methylation defects induced by ICF syndrome-linked mutations in DNMT3B.Protein science : a publication of the Protein Society · 2024Article
- Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome.Journal of clinical immunology · 2024Article
- Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.Journal of clinical immunology · 2023Article
- The epigenetic regulator LSH maintains fork protection and genomic stability via MacroH2A deposition and RAD51 filament formation.Nature communications · 2021Article
- PML nuclear bodies and chromatin dynamics: catch me if you can!Nucleic acids research · 2020Review
- CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.The Journal of clinical investigation · 2019Article
- Ablation of Dnmt3b in chondrocytes suppresses cell maturation during embryonic development.Journal of cellular biochemistry · 2018Article
- DNA Methylation and Adult Neurogenesis.Brain plasticity (Amsterdam, Netherlands) · 2017Review
- Epigenetics and Human Disease.Cold Spring Harbor perspectives in biology · 2016Review
- Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.Journal of clinical immunology · 2016Article
- Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.European journal of human genetics : EJHG · 2013Article
- The role of genetics in the establishment and maintenance of the epigenome.Cellular and molecular life sciences : CMLS · 2013Review
- Regulation and function of DNA methylation in plants and animals.Cell research · 2011Review
- ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation.Autoimmunity · 2008Review
- Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).Orphanet journal of rare diseases · 2006Review
- Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells.Chromosoma · 2005Article
- DNA hypermethylation in Drosophila melanogaster causes irregular chromosome condensation and dysregulation of epigenetic histone modifications.Molecular and cellular biology · 2003Article
- DNA methylation and chromatin - unraveling the tangled web.Oncogene · 2002Review
- DNA methylation, methyltransferases, and cancer.Oncogene · 2001Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with ICF syndrome can be recognized by the presence of a variable immunodeficiency, instability of the pericentromeric heterochromatin of, in particular, chromosomes 1, 9, and 16 in cultured peripheral lymphocytes, and a number of facial anomalies. Recently, aberrations at the molecular level have been described, consisting of alterations in the methylation pattern of classical satellite DNA, in a number of patients. ICF syndrome is considered to be inherited in an autosomal recessive manner and may be rare, as only 14 patients have been described thus far. We present a new case, a boy with agammaglobulinemia, who was extensively studied by means of classical cytogenetics and fluorescent in situ hybridization. All patients previously reported in the literature are reviewed.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.