, Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities, Genet. Med, vol.6, pp.81-89, 2004.
, Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort, Am. J. Hum. Genet, vol.82, pp.927-936, 2008.
, Reciprocal translocations: a trap for cytogenetists?, Hum. Genet, vol.117, pp.571-582, 2005.
, Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients, J. Med. Genet, vol.44, pp.750-762, 2007.
, A case of autism with an interstitial 1q deletion (1q23.3- 24.2) and a de novo translocation of chromosomes 1q and 5q, Am. J. Med. Genet. A, vol.143, pp.2733-2737, 2007.
, Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient, Am. J. Med. Genet, vol.111, pp.405-408, 2002.
, Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization, Hum. Mutat, vol.28, pp.1124-1132, 2007.
, Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype, Hum. Mol. Genet. Am. J. Hum. Genet, vol.4, issue.82, pp.415-422, 1995.
, The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, J. Med. Genet, pp.42-50, 2005.
, Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization, American Journal of Medical Genetics Part A, vol.140, issue.11, pp.143-1191, 2007.
DOI : 10.1002/ajmg.a.31737
, Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project, Am. J. Hum. Genet, pp.82-712, 2008.
, Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation, Am. J. Hum. Genet, pp.72-1401, 2003.
, Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis, Cell, vol.48, issue.2, pp.351-357, 1987.
DOI : 10.1016/0092-8674(87)90438-7
, High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes, Eur. J. Hum. Genet, vol.8, pp.661-668, 2000.
, Position effect in human genetic disease, Human Molecular Genetics, vol.7, issue.10, pp.1611-1618, 1998.
DOI : 10.1093/hmg/7.10.1611
, Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome, Hum. Mol. Genet, vol.6, pp.1079-1086, 1997.
, Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements, Hum. Genet, vol.103, pp.173-178, 1998.
, Copy number variations and clinical cytogenetic diagnosis of constitutional disorders, Nature Genetics, vol.1, issue.7s, pp.48-54, 2007.
DOI : 10.1038/ng2092
, Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis, Pediatrics, vol.122, pp.1310-1318, 2008.
, Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations, Human Genetics, vol.99, issue.6, pp.99-806, 1997.
DOI : 10.1007/s004390050453
, 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, J. Med. Genet, pp.43-625, 2006.
, Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity, European Journal of Human Genetics, vol.12, issue.8, pp.12-647, 2004.
DOI : 10.1038/sj.ejhg.5201211
, Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation, Am J Med Genet A, vol.140, pp.2063-2074, 2006.
, t( 12;21): A new recurrent translocation in acute lymphoblastic leukemia, Genes, Chromosomes and Cancer, vol.5, issue.3, pp.186-191, 1994.
DOI : 10.1002/gcc.2870090307
, TWIST microdeletion identified by array CGH in a patient presenting Saethre???Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7, European Journal of Medical Genetics, vol.51, issue.2, pp.51-156, 2008.
DOI : 10.1016/j.ejmg.2007.12.003
, The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.34, issue.4, pp.145-335, 2007.
DOI : 10.1002/ajmg.c.30152
, Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances, Genes Chromosomes Cancer, vol.20, pp.399-407, 1997.
, Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation, Current Opinion in Genetics & Development, vol.17, issue.3, pp.182-192, 2007.
DOI : 10.1016/j.gde.2007.04.009
, Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness, European Journal of Human Genetics, vol.13, issue.1, pp.13-19, 2005.
DOI : 10.1038/sj.ejhg.5201279
, Guidelines for molecular karyotyping in constitutional genetic diagnosis, Eur. J. Hum. Genet, vol.15, pp.1105-1114, 2007.
, De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints, Am J Hum Genet, vol.49, pp.995-1013, 1991.