Affiliation: The Netherlands Cancer Institute
Country: The Netherlands
- [From gene to disease; ataxia telangiectasia]A Broeks
Afd Experimentele Therapie, Het Nederlands Kanker Instituut Antoni van Leeuwenhoek Ziekenhuis, Plesmanlaan 121, 1066 CX Amsterdam
Ned Tijdschr Geneeskd 147:386-9. 2003..AT is difficult to diagnose due to its rarity and clinical heterogeneity. Both a physical examination and several laboratory tests are necessary for establishing its proper diagnosis...
- The spectrum of ATM missense variants and their contribution to contralateral breast cancerAnnegien Broeks
Division of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam, The Netherlands
Breast Cancer Res Treat 107:243-8. 2008..029). Our results indicate that the presence of ATM variants does not have a major impact on the overall risk of CBC. However, the combination of RT and (certain) ATM missense variants seems to accelerate tumour development...
- ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch populationA Broeks
Department of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam
Hum Mutat 12:330-7. 1998..The observed genetic heterogeneity including the relative high percentage of splice-site mutations had no reflection on the phenotype. All patients manifested classical A-T and increased cellular radioresistant DNA synthesis...
- Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasiaJ A P Hiel
Department of Neurology, Maxima Medical Centre, Veldhoven, The Netherlands
Neurology 67:346-9. 2006..ATM activity, as measured by phosphorylation of p53, was close to normal, indicating that the p53 response is not the only factor in preventing neural damage in anterior horn cells in AT...
- Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound studyM M M Verhagen
Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Neuropediatrics 38:117-21. 2007..With routine electrophysiological techniques the severe polyneuropathy precludes conclusions about the presence of anterior horn cell loss in older patients...