Winnie Courtens

Summary

Country: Belgium

Publications

  1. ncbi Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature
    Winnie Courtens
    Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
    Am J Med Genet A 134:321-5. 2005
  2. doi Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families
    Winnie Courtens
    Center of Human Genetics UCL, Cliniques Universitaires St Luc Brussels, Brussels, Belgium
    Am J Med Genet A 146:758-63. 2008
  3. ncbi A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review
    Winnie Courtens
    Department of Human Genetics, University Hospital St Luc UCL, Brussels, Belgium
    Clin Dysmorphol 16:231-9. 2007
  4. ncbi An interstitial deletion of chromosome 7 at band q21: a case report and review
    Winnie Courtens
    Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
    Am J Med Genet A 134:12-23. 2005
  5. ncbi Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review
    Winnie Courtens
    Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
    Am J Med Genet A 140:611-7. 2006
  6. ncbi Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome
    Yolande van Bever
    Department of Medical Genetics, University Hospital Antwerp, Edegem, Belgium
    Am J Med Genet A 143:763-7. 2007

Collaborators

Detail Information

Publications6

  1. ncbi Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature
    Winnie Courtens
    Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
    Am J Med Genet A 134:321-5. 2005
    ..Therefore, we propose to name it fibular aplasia-tibial campomelia-oligosyndactyly (FATCO) syndrome. Additional case reports are needed for further delineation of this rare limb deficiency syndrome...
  2. doi Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families
    Winnie Courtens
    Center of Human Genetics UCL, Cliniques Universitaires St Luc Brussels, Brussels, Belgium
    Am J Med Genet A 146:758-63. 2008
    ..Future reports are needed to answer the question whether microduplication could be a non-pathogenic polymorphism or whether it is a real syndrome with a very large clinical variability and reduced penetrance...
  3. ncbi A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review
    Winnie Courtens
    Department of Human Genetics, University Hospital St Luc UCL, Brussels, Belgium
    Clin Dysmorphol 16:231-9. 2007
    ..We review the clinical phenotype of these patients. We suggest that patients with a subterminal (11q24.2/25-qter) deletion may present with features of the well-known phenotype of terminal 11q deletion or Jacobsen syndrome...
  4. ncbi An interstitial deletion of chromosome 7 at band q21: a case report and review
    Winnie Courtens
    Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
    Am J Med Genet A 134:12-23. 2005
    ..Therefore, 7q21 might be considered a candidate chromosomal region for matUPD(7) and SRS...
  5. ncbi Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review
    Winnie Courtens
    Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
    Am J Med Genet A 140:611-7. 2006
    ..We conclude that a second gene locus for this disorder seems probable and that 4q35 needs further evaluation as a candidate region...
  6. ncbi Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome
    Yolande van Bever
    Department of Medical Genetics, University Hospital Antwerp, Edegem, Belgium
    Am J Med Genet A 143:763-7. 2007