Genomic profile of copy number variants on the short arm of human chromosome 8

Inverted tandem duplication generates a duplication deficiency of chromosome 8p

(2010) F. J. Dill et al.   CLINICAL GENETICS

Validation of the Agilent 244K Oligonucleotide Array–Based Comparative Genomic Hybridization Platform for Clinical Cytogenetic Diagnosis

(2009) Shihui Yu et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Inverted duplications deletions: underdiagnosed rearrangements??

(2009) O Zuffardi et al.   CLINICAL GENETICS

Clinical and molecular characterization of two patients with a 6.75Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

(2009) Marjolein H. Willemsen et al.   European Journal of Medical Genetics

Quantitative Real-Time Polymerase Chain Reaction for the Verification of Genomic Imbalances Detected by Microarray-Based Comparative Genomic Hybridization

(2009) Shihui Yu et al.   Genetic Testing and Molecular Biomarkers

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements

(2009) L R Rowe et al.   JOURNAL OF MEDICAL GENETICS

Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization

(2009) Soo Churl Cho et al.   PSYCHIATRIC GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

(2008) Anne W. Higgins et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement

(2008) Susanna L. Cooke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review

(2008) Marcella Zollino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The array CGH and its clinical applications

(2008) Marwan Shinawi et al.   DRUG DISCOVERY TODAY

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

(2008) Mary Glancy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Unusual 8p inverted duplication deletion with telomere capture from 8q

(2008) Karen Buysse et al.   European Journal of Medical Genetics

Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1

(2008) E. J. Hollox et al.   GENOME RESEARCH

Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements

(2008) Adam J. de Smith et al.   PLoS One