W Courtens

Summary

Country: Belgium

Publications

  1. ncbi Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion
    W Courtens
    Department of Medical Genetics, Brugmann University Hospital, Brussels, Belgium
    Hum Genet 103:497-505. 1998
  2. ncbi Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
    W Courtens
    Department of Medical Genetics, University Hospital Brugmann, Brussels, Belgium
    Am J Med Genet 93:244-9. 2000
  3. ncbi Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes
    W Courtens
    Department of Medical Genetics, Brugmann University Hospital, Brussels, Belgium
    Ann Genet 43:81-8. 2000
  4. ncbi Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)
    W Courtens
    Department of Medical Genetics, University Hospital Brugmann, Brussels, Belgium
    Prenat Diagn 21:642-8. 2001
  5. ncbi Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation
    E De Baere
    Department of Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
    Hum Mol Genet 10:1591-600. 2001
  6. ncbi Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency
    L H Cohen
    Hopital Universitaire des Enfants Reine Fabiola, Brussels, Belgium
    Eur J Pediatr 156:935-8. 1997

Collaborators

Detail Information

Publications6

  1. ncbi Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion
    W Courtens
    Department of Medical Genetics, Brugmann University Hospital, Brussels, Belgium
    Hum Genet 103:497-505. 1998
    ..The clinical features of both infants are compatible with Noonan syndrome, suggesting that a locus for this syndrome may be located on the long arm of chromosome 18...
  2. ncbi Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
    W Courtens
    Department of Medical Genetics, University Hospital Brugmann, Brussels, Belgium
    Am J Med Genet 93:244-9. 2000
    ..The presence of abnormal hair, nails, and the commonly described tooth abnormalities in KS further suggest ectodermal involvement in this syndrome...
  3. ncbi Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes
    W Courtens
    Department of Medical Genetics, Brugmann University Hospital, Brussels, Belgium
    Ann Genet 43:81-8. 2000
    ..We provide evidence that gestational diabetes mellitus could be teratogenic. We recommend a careful diabetic control in every woman with a history of gestational diabetes...
  4. ncbi Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)
    W Courtens
    Department of Medical Genetics, University Hospital Brugmann, Brussels, Belgium
    Prenat Diagn 21:642-8. 2001
    ..We reviewed the phenotype of the previously described patients, compared it with the propositae, and summarized the clinical features of pure trisomy 7q21/22-->qter...
  5. ncbi Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation
    E De Baere
    Department of Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
    Hum Mol Genet 10:1591-600. 2001
    ..Furthermore, we propose that in a fraction of the BPES patients the genetic defect does not reside within the coding region of the FOXL2 gene and may be caused by a position effect...
  6. ncbi Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency
    L H Cohen
    Hopital Universitaire des Enfants Reine Fabiola, Brussels, Belgium
    Eur J Pediatr 156:935-8. 1997
    ..CONCLUSION: The present findings give evidence that 5-oxoprolinase deficiency is not associated with a distinct morbid phenotype...