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Clinical Genetics|February 14, 2015
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathyC Leroy, M-L Jacquemont, B Doray, et al.Annales De Biologie Clinique|March 30, 2004
[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]J-M Lapierre, D Sanlaville, J Kang, et al.Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.Journal of Medical Genetics|July 15, 2006
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disordersM-L Jacquemont, D Sanlaville, R Redon, et al.Journal of Medical Genetics|April 16, 2002
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardationM Rio, F Molinari, S Heuertz, et al.Clinical Genetics|July 16, 2004
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardationG Borck, M Rio, D Sanlaville, et al.European Journal of Human Genetics : EJHG|May 30, 2001
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardationL Colleaux, M Rio, S Heuertz, et al.Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.Journal of Medical Genetics|June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speechC Bonnet, J Andrieux, M Béri-Dexheimer, et al.Journal of Medical Genetics|December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresAnna-Maja Molin, J Andrieux, D A Koolen, et al.Pageof 5