Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

(2012) Jeroen Breckpot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings

(2011) S. Yu et al.   CYTOGENETIC AND GENOME RESEARCH

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Donna M. McDonald-McGinn et al.   MEDICINE

Cardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome

(2010) Kazuo Momma   AMERICAN JOURNAL OF CARDIOLOGY

Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome

(2010) Munis Dundar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

(2010) H. R. Griffin et al.   HEART

Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an lnfant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy

(2009) Robin R. McGoey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

(2009) Luis Fernández et al.   BMC Medical Genetics

Microduplication 22q11.2: A new chromosomal syndrome

(2009) Marie-France Portnoï   European Journal of Medical Genetics

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot

(2009) R. Rauch et al.   JOURNAL OF MEDICAL GENETICS

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

(2009) Caroline Ogilvie et al.   Molecular Cytogenetics