Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia

(2010) K. van Engelen et al.   HEART

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

(2009) Anna Brunet et al.   BMC Medical Genetics

Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery

(2009) Yali Hu et al.   CARDIOLOGY IN THE YOUNG

Microduplication 22q11.2: A new chromosomal syndrome

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

Statewide Newborn Screening for Severe T-Cell Lymphopenia

(2009) John M. Routes   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families

(2008) Winnie Courtens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

(2008) Elizabeth Goldmuntz et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Velo-cardio-facial syndrome: 30 Years of study

(2008) Robert J. Shprintzen   Developmental Disabilities Research Reviews

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Chromosome 22q11.2 Deletion Syndrome: DiGeorge Syndrome/Velocardiofacial Syndrome

(2008) Kathleen E. Sullivan   IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

(2008) Ashleigh A Richards et al.   PEDIATRIC RESEARCH