Bernard Grisart

Summary

Country: Belgium

Publications

  1. doi request reprint 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
  2. doi request reprint 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
    B Grisart
    Centre de Genetique Humaine, Institut de Pathologie et de Génétique, B 6041 Charleroi, Belgium
    J Med Genet 46:524-30. 2009
  3. pmc Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
    Damien Lederer
    Centre de Genetique Humaine, Institut de Pathologie et Genetique, Charleroi, Belgium
    Am J Hum Genet 90:119-24. 2012
  4. doi request reprint 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 syndrome
    Stephanie Moortgat
    Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Charleroi Gosselies, Belgium
    Eur J Med Genet 54:177-80. 2011
  5. pmc 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 14
    Frédéric Farnir
    Department of Genetics, Faculty of Veterinary Medicine, University of Liège B43, 4000 Liege, Belgium
    Genetics 161:275-87. 2002

Collaborators

Detail Information

Publications5

  1. doi request reprint 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...
  2. doi request reprint 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
    B 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...
  3. pmc Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
    Damien 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...
  4. doi request reprint 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 syndrome
    Stephanie 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...
  5. pmc 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 14
    Frédéric Farnir
    Department of Genetics, Faculty of Veterinary Medicine, University of Liège B43, 4000 Liege, Belgium
    Genetics 161:275-87. 2002
    ....