Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome

(2013) M. Teresa de la Morena et al.   CLINICAL IMMUNOLOGY

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

Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

(2012) Judith M.A. Verhagen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evaluation of a Droplet Digital Polymerase Chain Reaction Format for DNA Copy Number Quantification

(2011) Leonardo B. Pinheiro et al.   ANALYTICAL CHEMISTRY

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case

(2011) Marcello Frigerio et al.   BMC Medical Genetics

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

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

A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder

(2010) Willem Verhoeven et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss of MicroRNAs in Neural Crest Leads to Cardiovascular Syndromes Resembling Human Congenital Heart Defects

(2010) Zhan-Peng Huang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Evaluation of multiplex ligation-dependent probe amplification as a method for the detection of copy number abnormalities in B-cell precursor acute lymphoblastic leukemia

(2010) C. J. Schwab et al.   GENES CHROMOSOMES & CANCER

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

(2009) Luis Fernández et al.   BMC Medical Genetics

Loss of Cardiac microRNA-Mediated Regulation Leads to Dilated Cardiomyopathy and Heart Failure

(2009) Prakash K. Rao et al.   CIRCULATION RESEARCH

Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH

(2009) D.C. Bittel et al.   CYTOGENETIC AND GENOME RESEARCH

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

(2009) Caroline Ogilvie et al.   Molecular Cytogenetics

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

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype

(2008) Olaug K. Rødningen et al.   European Journal of Medical Genetics

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

(2008) J. Newbern et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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