E K Bijlsma
Affiliation: Leiden University Medical Center
Country: The Netherlands
- Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationE 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...
- Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Anne 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...
- Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locusE 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...
- Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individualsE 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...
- Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletionA 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...
- 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...
- Increased nuchal translucency thickness and normal karyotype: time for parental reassuranceC M Bilardo
Department of Obstetrics and Gynecology, Academic Medical Centre, Amsterdam, The Netherlands
Ultrasound Obstet Gynecol 30:11-8. 2007....
- Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experienceC 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...
- Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosisS 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...
- Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two casesM E van Huizen
Prenat Diagn 24:1020-1. 2004
- Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parentsM E van Huizen
Ultrasound Obstet Gynecol 26:793-4. 2005