E K Bijlsma

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. ncbi Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
    E K Bijlsma
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Med Genet 55:404-13. 2012
  2. ncbi Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
  3. ncbi Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus
    E K Bijlsma
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Prenat Diagn 25:39-44. 2005
  4. ncbi Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals
    E K Bijlsma
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Med Genet 52:77-87. 2009
  5. ncbi Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletion
    A C Knegt
    Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Prenat Diagn 23:215-20. 2003
  6. ncbi X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
    A C J Gijsbers
    Center for Human and Clinical Genetics, Leiden University Medical Center LUMC, Einthovenweg 20, Leiden, The Netherlands
    Clin Genet 79:71-8. 2011
  7. ncbi Increased nuchal translucency thickness and normal karyotype: time for parental reassurance
    C M Bilardo
    Department of Obstetrics and Gynecology, Academic Medical Centre, Amsterdam, The Netherlands
    Ultrasound Obstet Gynecol 30:11-8. 2007
  8. ncbi Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience
    C D M van Karnebeek
    Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
    J Med Genet 39:546-53. 2002
  9. ncbi Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis
    S Leenstra
    Department of Neurosurgery, University of Amsterdam, The Netherlands
    Br J Cancer 70:684-9. 1994
  10. ncbi Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two cases
    M E van Huizen
    Prenat Diagn 24:1020-1. 2004

Collaborators

Detail Information

Publications11

  1. ncbi Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
    E K Bijlsma
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Med Genet 55:404-13. 2012
    ..The collected data indicate that the associated phenotype in females is distinct from males with similar duplications, but the clinical effects may be as severe as seen in males...
  2. ncbi Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
    ..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
  3. ncbi Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus
    E K Bijlsma
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Prenat Diagn 25:39-44. 2005
    ..To describe and discuss the clinical, cytogenetic and molecular findings in a fetus with the first prenatally detected interstitial deletion of chromosome 2q...
  4. ncbi Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals
    E K Bijlsma
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Med Genet 52:77-87. 2009
    ..2 deletions are associated with variable clinical outcome, most likely arising from haploinsufficiency of one or more genes. The phenotypical spectrum ranges from MR and/or MCA, autism, learning and speech problems, to a normal phenotype...
  5. ncbi Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletion
    A C Knegt
    Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Prenat Diagn 23:215-20. 2003
    ..The presence of such a neocentric marker/deletion karyotype in a parent presents unique possible karyotypic outcomes for conceptions and unusual challenges for genetic counseling...
  6. ncbi X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
    A C J Gijsbers
    Center for Human and Clinical Genetics, Leiden University Medical Center LUMC, Einthovenweg 20, Leiden, The Netherlands
    Clin Genet 79:71-8. 2011
    ..Based on size and/or the presence of XLMR genes we were able to classify CNVs as pathogenic in two patients. However, it remains difficult to decide if the CNVs in the other three patients are pathogenic or benign...
  7. ncbi Increased nuchal translucency thickness and normal karyotype: time for parental reassurance
    C M Bilardo
    Department of Obstetrics and Gynecology, Academic Medical Centre, Amsterdam, The Netherlands
    Ultrasound Obstet Gynecol 30:11-8. 2007
    ....
  8. ncbi Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience
    C D M van Karnebeek
    Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
    J Med Genet 39:546-53. 2002
    ..Conventional cytogenetic analyses, combined with targeted microdeletion testing, remain the single most effective way of additional investigation in mentally retarded children, also in a tertiary centre...
  9. ncbi Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis
    S Leenstra
    Department of Neurosurgery, University of Amsterdam, The Netherlands
    Br J Cancer 70:684-9. 1994
    ..In this study, age proved to be of minor importance with regard to survival. Our study revealed a predominance of frontally located tumours in patients with type 1 tumours, i.e. with LOH 17p only...
  10. ncbi Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two cases
    M E van Huizen
    Prenat Diagn 24:1020-1. 2004
  11. ncbi Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents
    M E van Huizen
    Ultrasound Obstet Gynecol 26:793-4. 2005