ArticleHuman genetics1993
Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.
Article in Human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 67 citations in OpenAlex.
- A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.European journal of human genetics : EJHG · 2016Article
- Developmental trajectories in 22q11.2 deletion.American journal of medical genetics. Part C, Seminars in medical genetics · 2015Review
- Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.Molecular cytogenetics · 2012Article
- An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
- Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.BMC medical genetics · 2010Article
- Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review.Journal of clinical pathology · 2005Article
- Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect.Heart (British Cardiac Society) · 1998Article
- Cloning and characterization of hOGG1, a human homolog of the OGG1 gene of Saccharomyces cerevisiae.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
- Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.American journal of human genetics · 1997Article
- Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases.Diagnostic molecular pathology : the American journal of surgical pathology, part B · 1995Article
- Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.American journal of human genetics · 1995Article
- Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.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
- Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.Journal of medical 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
- Clinical and molecular study of DiGeorge sequence.European journal of pediatrics · 1994Article
- Precise localization on chromosome 12 of the ATF-1 gene by fluorescence in situ hybridization.Human genetics · 1994Article
- Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.American journal of human genetics · 1993Article
- Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).Journal of medical genetics · 1993Article
- Patients' age at time of testing for chromosome 22q11 microdeletions: missed opportunities for genetic counseling.Pediatric cardiologyArticle
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In the ten patients, a microdeletion was demonstrated by in situ hybridization, but suspected only in two patients by high resolution banding.
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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.