Ineke van der Burgt

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. pmc Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?
    Angelique JA Kooper
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Cytogenet 5:7. 2012
  2. pmc Noonan syndrome
    Ineke van der Burgt
    Department of Human Genetics, University Medical Centre St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Orphanet J Rare Dis 2:4. 2007
  3. pmc Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 19:870-4. 2011
  4. ncbi request reprint Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature
    Marjolijn Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Med Genet A 134:165-70. 2005
  5. doi request reprint Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review
    Bregje W M van Bon
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 146:1225-9. 2008
  6. doi request reprint Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells
    Angelique J A Kooper
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Prenat Diagn 28:1004-10. 2008
  7. doi request reprint Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Genes Chromosomes Cancer 49:635-41. 2010
  8. doi request reprint Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation
    Timothy Antonius
    Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands
    Am J Med Genet A 146:496-9. 2008
  9. pmc Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient
    Farmaditya E P Mundhofir
    Division of Human Genetics, Center for Biomedical Research CEBIOR, Faculty of Medicine, Diponegoro University GSG, 2nd Floor Jl Dr Sutomo 14, Semarang, Indonesia Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Case Rep Genet 2012:949507. 2012
  10. ncbi request reprint A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development
    Sascha Vermeer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Dev Med Child Neurol 49:380-4. 2007

Collaborators

Detail Information

Publications23

  1. pmc Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?
    Angelique JA Kooper
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Cytogenet 5:7. 2012
    ..Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR...
  2. pmc Noonan syndrome
    Ineke van der Burgt
    Department of Human Genetics, University Medical Centre St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Orphanet J Rare Dis 2:4. 2007
    ..Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care...
  3. pmc Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 19:870-4. 2011
    ..In conclusion, this study provides first evidence of an increased risk of cancer in patients with NS and a PTPN11 mutation, compared with that in the general population. Our data do not warrant specific cancer surveillance...
  4. ncbi request reprint Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature
    Marjolijn Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Med Genet A 134:165-70. 2005
    ..This confirms previous findings indicating that individuals with NS with specific mutations in PTPN11 are at risk of developing JMML...
  5. doi request reprint Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review
    Bregje W M van Bon
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 146:1225-9. 2008
  6. doi request reprint Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells
    Angelique J A Kooper
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Prenat Diagn 28:1004-10. 2008
    ..e. 13, 18, 21, X and Y) in amniotic fluid cells in routine prenatal clinical practice...
  7. doi request reprint Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Genes Chromosomes Cancer 49:635-41. 2010
    ..Sequence analysis of the SOS1 gene in 20 sporadic ERMS tumors failed to reveal any pathogenic mutations, implicating that SOS1 is not a major player in the development of this tumor outside the context of NS...
  8. doi request reprint Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation
    Timothy Antonius
    Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands
    Am J Med Genet A 146:496-9. 2008
    ..This report provides additional evidence that WT1 mutations can result in diaphragmatic hernia...
  9. pmc Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient
    Farmaditya E P Mundhofir
    Division of Human Genetics, Center for Biomedical Research CEBIOR, Faculty of Medicine, Diponegoro University GSG, 2nd Floor Jl Dr Sutomo 14, Semarang, Indonesia Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Case Rep Genet 2012:949507. 2012
    ..About half of these mutations are located in exon eight. Here, we report the first Indonesian patient with Mowat-Wilson syndrome confirmed by molecular analysis...
  10. ncbi request reprint A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development
    Sascha Vermeer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Dev Med Child Neurol 49:380-4. 2007
    ..This case study shows that identifying a microdeletion as the cause of learning disability is not only important for genetic counselling but might also lead to therapeutic intervention...
  11. pmc Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification
    Angelique J A Kooper
    Department of Human Genetics, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Mol Diagn 11:17-24. 2009
    ..To obtain MLPA results representative for STC and LTC, enzymatic dissociation of cells from the cytotrophoblast layer and mesenchymal core is required...
  12. ncbi request reprint Genetics and variation in phenotype in Noonan syndrome
    Marjolijn Jongmans
    Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
    Horm Res 62:56-9. 2004
    ..A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia...
  13. pmc Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
    Tjitske Kleefstra
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 19:138-44. 2011
    ..We postulate that patients with Ras-MAPK mutations have an increased susceptibility, but a second metabolic hit is needed to cause the clinical manifestation of mitochondrial dysfunction...
  14. ncbi request reprint The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment
    Kees Noordam
    Department of Paediatric Endocrinology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    J Pediatr Endocrinol Metab 15:175-80. 2002
    ..However, the variability in phenotype severity did account for striking differences in endogenous GH secretion...
  15. ncbi request reprint Noonan syndrome: psychological and psychiatric aspects
    Willem Verhoeven
    Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands
    Am J Med Genet A 146:191-6. 2008
    ..It is concluded that NS in adults is associated with a behavioral phenotype in which deficiencies in social and emotional recognition and expression may be key elements...
  16. pmc PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    Marco Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Am J Hum Genet 70:1555-63. 2002
    ..A PTPN11 mutation was identified in a family inheriting Noonan-like/multiple giant-cell lesion syndrome, extending the phenotypic range of disease associated with this gene...
  17. ncbi request reprint Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
    Andra Ion
    Department of Medical Genetics, St George s Medical School, Cranmer Terrace, London SW17ORE, UK
    Hum Genet 111:421-7. 2002
    ..The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome...
  18. pmc Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 75:492-7. 2004
    ....
  19. ncbi request reprint Genotype-phenotype correlation in patients suspected of having Sotos syndrome
    Lonneke de Boer
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 62:197-207. 2004
    ..We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration...
  20. ncbi request reprint Identification of mutations in CUL7 in 3-M syndrome
    Celine Huber
    Universite Paris Descartes, Faculte de Medecine, INSERM, AP HP, Hopital Necker Enfants Malades, U393 and Department of Medical Genetics, 149 rue de Sèvres 75015, Paris, France
    Nat Genet 37:1119-24. 2005
    ..These results suggest that impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation in humans...
  21. ncbi request reprint Germline KRAS mutations cause Noonan syndrome
    Suzanne Schubbert
    Department of Pediatrics, University of California, 513 Parnassus Avenue, San Francisco, California 94143, USA
    Nat Genet 38:331-6. 2006
    ..These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras...
  22. doi request reprint Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization
    Ellen A Croonen
    Department of Pediatric Cardiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 146:350-3. 2008
    ..We conclude that there are characteristic ECG findings in Noonan syndrome, but the ECG pattern is neither a useful tool for the phenotype characterization of a PTPN11 mutation, nor for the presence or type of cardiac abnormality...
  23. pmc SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
    Martin Zenker
    J Med Genet 44:651-6. 2007
    ..Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in patients with CFCS...