ArticleJournal of medical genetics1993
ICF syndrome with variable expression in sibs.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 38 citations in OpenAlex.
- Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.Clinical reviews in allergy & immunology · 2025Article
- 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
- 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
- Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor.BMJ case reports · 2013Article
- Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.American journal of human genetics · 2011Article
- 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
- A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.Journal of medical genetics · 1998Article
- Variegated transgene expression in mouse mammary gland is determined by the transgene integration locus.Proceedings of the National Academy of Sciences of the United States of America · 1996Article
- DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor.Human genetics · 1995Article
- Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.European journal of pediatrics · 1995Review
- ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome.Human genetics · 1995Review
- FISH analysis on spontaneously arising micronuclei in the ICF syndrome.Journal of medical genetics · 1995Article
- ICF syndrome: a new case and review of the literature.Human genetics · 1994Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a new familial case of ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) in a woman of 29 years and in her brother of 30 years. The proband showed mental retardation, facial anomalies, recurrent respiratory infections, combined deficit of IgM and IgE immunoglobulin classes, and paracentromeric heterochromatin instability of chromosomes 1, 9, and 16. The brother had minor signs of the syndrome and had an apparently normal phenotype. Their parents were healthy and non-consanguineous. Chromosome anomalies consisted of homologous and non-homologous associations, chromatid and isochromatid breaks, deletions of whole arms, interchanges in the paracentromeric region, and multibranched configurations of chromosomes 1, 9, and 16. CD bands and fluorescence in situ hybridisation with alphoid DNA sequence probes specific for the centromeres of chromosomes 1 and 16 showed that the centromere was not directly implicated in the formation of multibranched configurations. These cases indicate the autosomal recessive mode of inheritance and the variable expressivity of the ICF syndrome.
Indexed as
Identifiers
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.