ArticleAmerican journal of human genetics1993
Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed.
- Article
- A high-coverage genome sequence from an archaic Denisovan individual.Science (New York, N.Y.) · 2012Article
- Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.Birth defects research. Part A, Clinical and molecular teratology · 2009Article
- Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2006Article
- Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.American journal of human genetics · 1999Article
- Phenotype of adults with the 22q11 deletion syndrome: A review.American journal of medical genetics · 1999Review
- Features of DiGeorge syndrome and CHARGE association in five patients.Journal of medical genetics · 1997Article
- Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.Human genetics · 1996Article
- Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.Journal of medical genetics · 1995Article
- Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183).Human genetics · 1995Article
- Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.Human genetics · 1995Review
- Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.American journal of human genetics · 1995Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and translocation breakpoints in the DiGeorge syndrome (DGS) critical region of chromosome 22. This physical map enables us to define a large region, commonly deleted in a majority of affected patients, and the smallest deleted region which, when lost, is sufficient to produce DGS. In four instances, a similar large deleted region is observed in a familial context. In these pedigrees, the deletion is encountered in one parent with mild features of the disease.
Indexed as
Identifiers
8250039PMC1682508What 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.