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

Concurrent microdeletion and duplication of 22q11.2

(2009) E Blennow et al.   CLINICAL GENETICS

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome

(2008) Jacob A.S. Vorstman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

(2008) Sintia Iole Nogueira et al.   European Journal of Medical Genetics

Clinical variability of the 22q11.2 duplication syndrome

(2008) Christian Wentzel et al.   European Journal of Medical Genetics

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

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Genome-based prediction of common diseases: advances and prospects

(2008) A. C. J.W. Janssens et al.   HUMAN MOLECULAR GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Detailed analysis of 22q11.2 with a high density MLPA probe set

(2007) G.R. Jalali et al.   HUMAN MUTATION