A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

Gene Copy-Number Alterations: A Cost-Benefit Analysis

(2013) Yun-Chi Tang et al.   CELL

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients

(2012) Karina Meden Sørensen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

(2012) Renqian Du et al.   JOURNAL OF HUMAN GENETICS

Screening for TBX1 Gene in Children With or Without Microdeletion of Chromosome 22q11 and Conotruncal Defect

(2012) Alka Anilkumar et al.   Labmedicine

The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population-based study

(2011) Peter Agergaard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

(2011) Anna Wozniak et al.   BMC Pediatrics

SgD-CNV, a database for common and rare copy number variants in three Asian populations

(2011) Haiyan Xu et al.   HUMAN MUTATION

Cardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome

(2010) Kazuo Momma   AMERICAN JOURNAL OF CARDIOLOGY

Gene copy number variation and common human disease

(2009) M Fanciulli et al.   CLINICAL GENETICS

Microduplication 22q11.2: A new chromosomal syndrome

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

Sensitive and accurate detection of copy number variants using read depth of coverage

(2009) S. Yoon et al.   GENOME RESEARCH

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

(2008) Luis Fernández et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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