- NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?Bernard Grisart
Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium
Eur J Hum Genet 16:305-11. 2008..Similar phenotypic abnormalities were present in most of the individuals, however, two displayed a normal phenotype, suggesting a potential incomplete penetrance of the phenotype associated with NF1 microduplication...
- 17q21.31 microduplication patients are characterised by behavioural problems and poor social interactionB Grisart
Centre de Genetique Humaine, Institut de Pathologie et de Génétique, B 6041 Charleroi, Belgium
J Med Genet 46:524-30. 2009..Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in 4 patients...
- Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndromeDamien Lederer
Centre de Genetique Humaine, Institut de Pathologie et Genetique, Charleroi, Belgium
Am J Hum Genet 90:119-24. 2012..This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes...
- Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndromeStephanie Moortgat
Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Charleroi Gosselies, Belgium
Eur J Med Genet 54:177-80. 2011..To our knowledge, this is the smallest interstitial deletion reported in the 3q25 region. The phenotype of our patient is compared with the 10 previously reported cases implicating the 3q25 region...
- Simultaneous mining of linkage and linkage disequilibrium to fine map quantitative trait loci in outbred half-sib pedigrees: revisiting the location of a quantitative trait locus with major effect on milk production on bovine chromosome 14Frédéric Farnir
Department of Genetics, Faculty of Veterinary Medicine, University of Liège B43, 4000 Liege, Belgium
Genetics 161:275-87. 2002....