ArticleJournal of medical genetics1997
Features of DiGeorge syndrome and CHARGE association in five patients.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 59 citations in OpenAlex.
- Autoimmunity in Primary Immunodeficiencies (PID).Clinical reviews in allergy & immunology · 2023Review
- Case Report: Nontuberculous mycobacterial infections in children with complete DiGeorge anomaly.Frontiers in immunology · 2023Article
- Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports.Case reports in pediatrics · 2016Article
- CHARGE syndrome: a review of the immunological aspects.European journal of human genetics : EJHG · 2015Review
- Helios expression in T-regulatory cells in patients with di George Syndrome.Journal of clinical immunology · 2014Article
- More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.Molecular syndromology · 2013Article
- Immunological aspects of 22q11.2 deletion syndrome.Cellular and molecular life sciences : CMLS · 2012Review
- The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.Development (Cambridge, England) · 2010Article
- Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.The Journal of clinical investigation · 2009Article
- Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review.Pediatric surgery international · 2008Review
- Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.Clinical and experimental immunology · 2008Article
- Article
- Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.Journal of medical genetics · 2006Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association. CHARGE association is usually sporadic and its origin is as yet unknown. Conversely, more than 90% of DGS patients are monosomic for the 22q11.2 chromosomal region. In each of the five patients, both cytogenetic and molecular analysis for the 22q11.2 region were normal. In view of the broad clinical spectrum and the likely genetic heterogeneity of both disorders, these cases are consistent with the extended phenotype of either DGS without 22q11.2 deletion or CHARGE association, especially as several features of CHARGE association have been reported in rare patients with 22q11.2 deletion association phenotypes. On the other hand, these could be novel cases of an independent association involving a complex defect of neural crest cells originating from the pharyngeal pouches.
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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.