Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands
- Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literatureI Feenstra
Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Eur J Med Genet 49:384-95. 2006..Terminal duplications of 22qter may be more common than generally assumed, but due to its small size, especially when located on an acrocentric chromosome and/or possibly relatively mild phenotype remain undetected thus far...
- Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8I Feenstra
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Neuropediatrics 37:83-7. 2006..The pattern of imaging abnormalities was non-specific, but remarkably similar between patients. We found no correlation between the severity of the clinical features, imaging results, and extent of the chromosomal aberration...
- European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalitiesI Feenstra
Department of Human Genetics 417, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Eur J Med Genet 49:279-91. 2006..Additionally, detailed correlations between chromosome aberrations and their phenotypes are of invaluable help in localising genes for mental retardation and congenital anomalies...
- Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storageI Feenstra
Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands
Cytogenet Genome Res 115:231-9. 2006..As a result, critical regions or single genes can be determined to be responsible for specific features and malformations...
- Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humansIlse Feenstra
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 89:813-9. 2011..Trp241X) and c.946_947delinsA (p.Pro316ThrfsX16), and both mutations predicted a loss of function. Together, these results demonstrate that hemizygosity of TSHZ1 leads to congenital aural atresia as a result of haploinsufficiency...
- Neuropsychiatry and deletions of 18q; case report and diagnostic considerationsW M A Verhoeven
Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands
Genet Couns 17:307-13. 2006..Treatment should include primarily behavioural measures, combined if necessary with symptomatic psychopharmacotherapy...