Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: is there a common genetic pathway?
- 30 November 2003
- journal article
- review article
- Published by Elsevier in Trends in Genetics
- Vol. 19 (11) , 588-593
- https://doi.org/10.1016/j.tig.2003.09.002
Abstract
No abstract availableKeywords
This publication has 35 references indexed in Scilit:
- Genomic Disorders on 22q11American Journal of Human Genetics, 2002
- Segmental duplications: an 'expanding' role in genomic instability and diseaseNature Reviews Genetics, 2001
- Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/ del22q11 syndromesProceedings of the National Academy of Sciences, 2001
- Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in miceNature, 2001
- DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1Nature Genetics, 2001
- TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge SyndromePublished by Elsevier ,2001
- Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.Journal of Medical Genetics, 1997
- Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: A new component manifestation of deletion 22q11?American Journal of Medical Genetics, 1997
- Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.Journal of Medical Genetics, 1995
- Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted regionAmerican Journal of Medical Genetics, 1995