I Feenstra

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. ncbi Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature
    I 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
  2. ncbi Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8
    I Feenstra
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Neuropediatrics 37:83-7. 2006
  3. ncbi European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
    I 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
  4. ncbi Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage
    I Feenstra
    Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands
    Cytogenet Genome Res 115:231-9. 2006
  5. ncbi Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans
    Ilse Feenstra
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 89:813-9. 2011
  6. ncbi Neuropsychiatry and deletions of 18q; case report and diagnostic considerations
    W M A Verhoeven
    Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands
    Genet Couns 17:307-13. 2006

Detail Information

Publications6

  1. ncbi Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature
    I 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...
  2. ncbi Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8
    I 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...
  3. ncbi European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
    I 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...
  4. ncbi Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage
    I 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...
  5. ncbi Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans
    Ilse 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...
  6. ncbi Neuropsychiatry and deletions of 18q; case report and diagnostic considerations
    W 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...