DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood.

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85

High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry (1999) 5.54

The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet (1998) 2.16

T cell regulation as a side effect of homeostasis and competition. J Exp Med (2003) 2.15

Long-term assessment of T-cell populations in DiGeorge syndrome. J Allergy Clin Immunol (2003) 1.63

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr (2001) 1.50

DiGeorge's or the III-IV pharyngeal pouch syndrome: pathology and a theory of pathogenesis. Perspect Pediatr Pathol (1975) 1.13

Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review. J Clin Pathol (2005) 1.12

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr (2001) 1.10

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood (2003) 1.04

The facial phenotype of the velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol (2008) 1.02

CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia. Clin Diagn Lab Immunol (2002) 1.02

Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genet A (2004) 1.00

Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child (2002) 0.98

Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol (1998) 0.98

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet A (2006) 0.98

Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatr Allergy Immunol (2006) 0.91

Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Exp Immunol (2003) 0.91

DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood. Ulster Med J (2008) 0.86

Absence of the thymus. Lancet (1967) 0.85

Thymic output markers indicate immune dysfunction in DiGeorge syndrome. J Allergy Clin Immunol (2006) 0.85

[Spectrum of neuropsychiatric features associated with velocardiofacial syndrome (Deletion 22q11.2)]. Fortschr Neurol Psychiatr (2006) 0.83

The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. Am J Med Genet A (2010) 0.81

Novel deployment of a covered duodenal stent in open surgery to facilitate closure of a malignant duodenal perforation. World J Surg Oncol (2009) 0.75