Research Topics
Species | Ineke van der BurgtSummaryAffiliation: Radboud University Nijmegen Medical Centre Country: The Netherlands Publications
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Detail Information
Publications
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...- Noonan syndromeIneke 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... - Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutationMarjolijn 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... 
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literatureMarjolijn 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...- 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 reviewBregje 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 
Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cellsAngelique 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...- Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcomaMarjolijn 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... - Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutationTimothy 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... - Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patientFarmaditya 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... - A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed developmentSascha 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... - Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplificationAngelique 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... - Genetics and variation in phenotype in Noonan syndromeMarjolijn 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... - Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathwayTjitske 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... - The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatmentKees 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... - Noonan syndrome: psychological and psychiatric aspectsWillem 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... - PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityMarco 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... - Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra 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... - Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndromeMarco Tartaglia
Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
Am J Hum Genet 75:492-7. 2004.... - Genotype-phenotype correlation in patients suspected of having Sotos syndromeLonneke de Boer
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
Horm Res 62:197-207. 2004..CONCLUSIONS: In our patients suspected of having Sotos syndrome, facial features and overgrowth were highly predictive of a NSD1 gene aberration, whereas developmental delay and advanced bone age were not... - Identification of mutations in CUL7 in 3-M syndromeCeline 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... - Germline KRAS mutations cause Noonan syndromeSuzanne 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... - Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterizationEllen 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... - SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker
J Med Genet 44:651-6. 2007..These findings corroborate that, despite being caused by gain-of-function mutations in molecules belonging to the same pathway, NS and CFCS scarcely overlap genotypically...