Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports, Journal of Medical Genetics, vol.43, issue.8, pp.625-633, 2006. ,
DOI : 10.1136/jmg.2005.039453
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization, Human Mutation, vol.76, issue.11, pp.1124-1132, 2007. ,
DOI : 10.1002/humu.20581
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome, Genetics in Medicine, vol.16, issue.9, pp.607-616, 2007. ,
DOI : 10.1097/GIM.0b013e3181484b49
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15 16 ,
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome, European Journal of Human Genetics, vol.37, issue.6, pp.759-767, 2006. ,
DOI : 10.1038/sj.ejhg.5201613
Discovery of a previously unrecognized microdeletion syndrome of 16p11, Nat Genet, vol.2, issue.39, pp.12-14, 2007. ,
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability, Nature Genetics, vol.44, issue.9, pp.1032-1037, 2006. ,
DOI : 10.1093/hmg/ddh138
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism, Nature Genetics, vol.38, issue.9, pp.999-1001, 2006. ,
DOI : 10.1093/hmg/ddi182
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome, Nature Genetics, vol.14, issue.9, pp.1038-1042, 2006. ,
DOI : 10.1002/(SICI)1096-8628(19961211)66:2<193::AID-AJMG13>3.0.CO;2-O
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist, Journal of Medical Genetics, vol.38, issue.3, pp.145-150, 2001. ,
DOI : 10.1136/jmg.38.3.145
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly, Human Mutation, vol.80, issue.12, pp.1189-1197, 2007. ,
DOI : 10.1002/humu.20594
Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene, Nucleic Acids Research, vol.32, issue.18, p.139, 2004. ,
DOI : 10.1093/nar/gnh137
Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities, The American Journal of Human Genetics, vol.73, issue.6, pp.1261-1270, 2003. ,
DOI : 10.1086/379977
A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization, Clinical Genetics, vol.23, issue.Suppl. 1, pp.429-432, 2004. ,
DOI : 10.1111/j.0009-9163.2004.00245.x
Diagnostic Genome Profiling in Mental Retardation, The American Journal of Human Genetics, vol.77, issue.4, pp.606-616, 2005. ,
DOI : 10.1086/491719
Cryptic deletions are a common finding in balanced reciprocal and complex chromosome rearrangements: a study of 59 patients ,