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- DiGeorge syndrome: an historical review of clinical and cytogenetic features.J Med Genet. 1993; 30: 803-806
- Head and truncal abnormalities and secondary clinical aspects of 22q11 microdeletion. A series of 111 patients.Arch Pediatr. 1999; 6: 305s-307s
- Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.Am J Med Genet. 1999; 85: 127-133
- Research on behavioural phenotypes: velocardiofacial syndrome (deletion 22q11.2).Dev Med Child Neurol. 2000; 42: 422-427
Diagnostic and Statistical manual of mental disorders. Washington, American Psychiatric Association, Publ., 1994
- Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.J Med Genet. 1997; 34: 798-804
- A patient with autistic disorder and a 20/22 chromosomal translocation.Dev Med Child Neurol. 1998; 40: 492-495
- On cognitive variability in velocardiofacial syndrome: profound mental retardation and autism.Am J Med Genet. 1998; 81 (Neuropsychiatric Genetics): 269-270
- Chromosome 22q11 deletions are not found in autistic patients identified using strict diagnostic criteria. IMGSAC. International Molecular Genetics Study of Autism Consortium.Am J Med Genet. 2000; 96: 15-17
- Minimum prevalence of 22q11 deletions.Am J Hum Genet. 1994; 55: A975
- Isolation of a putative transcriptional regulator from the region 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.Hum Mol Genet. 1993; 2: 2099-2107