Toril Fagerheim
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Toril Fagerheim has a total of 18 co-authors. Here are the top co-authors by number of shared publications:
- Bjørn Nygård
Department of Medical Genetics, University Hospital of North-Norway, NO9038 Tromsø, Norway
2 shared publications - Helene Hjellnes
Department of Medical Genetics, University Hospital of North-Norway, NO9038 Tromsø, Norway
2 shared publications - Svein Ivar Mellgren
Department of Clinical Medicine, Neuromuscular Research Group, University of Tromsø, NO9037 Tromsø, Norway
2 shared publications - Øivind Nilssen
Department of Clinical Medicine, University of Tromsø, NO-9037 Tromsø, Norway; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North-Norway, NO-9038 Tromsø, Norway
2 shared publications - Fredrik Johansen
Department of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Montebello, Norway
1 shared publication - Giske Ursin
The Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway; Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway; Department of Preventive Medicine, University of Southern California, Los Angeles, CA, USA
1 shared publication
Latest Publications
- Open Access
- 21 January 2014
- Published by Springer Nature in BMC Medical Genetics
- Vol. 15 (1) , 12
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
- 21 January 2014
- Published by Springer Nature in BMC Medical Genetics
- Vol. 15 (1) , 12
Open AccessSegregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
- Open Access
- 21 September 2013
- Published by Springer Nature in BMC Medical Genetics
- Vol. 14 (1) , 94
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and neurophysiological data gathered under ideal conditions for clinical assessment. However, in a diagnostic laboratory setting relying on external test requisitions and patient samples, such conditions are not always met. Our objective was therefore to perform a retrospective evaluation of the data given in laboratory request forms and to assess their quality and applicability with regard to the recommended algorithms for CMT diagnostics. As we are the main test centre for CMT in Norway our results also provide an overview of the spectrum of gene defects in the Norwegian CMT population.
- 21 September 2013
- Published by Springer Nature in BMC Medical Genetics
- Vol. 14 (1) , 94
Open AccessDiagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and neurophysiological data gathered under ideal conditions for clinical assessment. However, in a diagnostic laboratory setting relying on external test requisitions and patient samples, such conditions are not always met. Our objective was therefore to perform a retrospective evaluation of the data given in laboratory request forms and to assess their quality and applicability with regard to the recommended algorithms for CMT diagnostics. As we are the main test centre for CMT in Norway our results also provide an overview of the spectrum of gene defects in the Norwegian CMT population.
- Open Access
- 19 March 2010
- Published by Springer Nature in BMC Medical Genomics
- Vol. 3 (1) , 1-13
Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density
Background: Increased mammographic density is one of the strongest independent risk factors for breast cancer. It is believed that one third of breast cancers are derived from breasts with more than 50% density. Mammographic density is affected by age, BMI, parity, and genetic predisposition. It is also greatly influenced by hormonal and growth factor changes in a woman's life cycle, spanning from puberty through adult to menopause. Genetic variations in genes coding for hormones and growth factors involved in development of the breast are therefore of great interest. The associations between genetic polymorphisms in genes from the IGF pathway on mammographic density and circulating levels of IGF1, its binding protein IGFBP3, and their ratio in postmenopausal women are reported here.Methods: Samples from 964 postmenopausal Norwegian women aged 55-71 years were collected as a part of the Tromsø Mammography and Breast Cancer Study. All samples were genotyped for 25 SNPs in IGF1, IGF2, IGF1R, IGF2R, IGFALS and IGFBP3 using Taqman (ABI). The main statistical analyses were conducted with the PROC HAPLOTYPE procedure within SAS/GENETICS™ (SAS 9.1.3).Results: The haplotype analysis revealed six haploblocks within the studied genes. Of those, four had significant associations with circulating levels of IGF1 or IGFBP3 and/or mammographic density. One haplotype variant in the IGF1 gene was found to be associated with mammographic density. Within the IGF2 gene one haplotype variant was associated with levels of both IGF1 and IGFBP3. Two haplotype variants in the IGF2R were associated with the level of IGF1. Both variants of the IGFBP3 haplotype were associated with the IGFBP3 level and indicate regulation in cis.Conclusion: Polymorphisms within the IGF1 gene and related genes were associated with plasma levels of IGF1, IGFBP3 and mammographic density in this study of postmenopausal women.
- 19 March 2010
- Published by Springer Nature in BMC Medical Genomics
- Vol. 3 (1) , 1-13
Open AccessGenotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density
Background: Increased mammographic density is one of the strongest independent risk factors for breast cancer. It is believed that one third of breast cancers are derived from breasts with more than 50% density. Mammographic density is affected by age, BMI, parity, and genetic predisposition. It is also greatly influenced by hormonal and growth factor changes in a woman's life cycle, spanning from puberty through adult to menopause. Genetic variations in genes coding for hormones and growth factors involved in development of the breast are therefore of great interest. The associations between genetic polymorphisms in genes from the IGF pathway on mammographic density and circulating levels of IGF1, its binding protein IGFBP3, and their ratio in postmenopausal women are reported here.Methods: Samples from 964 postmenopausal Norwegian women aged 55-71 years were collected as a part of the Tromsø Mammography and Breast Cancer Study. All samples were genotyped for 25 SNPs in IGF1, IGF2, IGF1R, IGF2R, IGFALS and IGFBP3 using Taqman (ABI). The main statistical analyses were conducted with the PROC HAPLOTYPE procedure within SAS/GENETICS™ (SAS 9.1.3).Results: The haplotype analysis revealed six haploblocks within the studied genes. Of those, four had significant associations with circulating levels of IGF1 or IGFBP3 and/or mammographic density. One haplotype variant in the IGF1 gene was found to be associated with mammographic density. Within the IGF2 gene one haplotype variant was associated with levels of both IGF1 and IGFBP3. Two haplotype variants in the IGF2R were associated with the level of IGF1. Both variants of the IGFBP3 haplotype were associated with the IGFBP3 level and indicate regulation in cis.Conclusion: Polymorphisms within the IGF1 gene and related genes were associated with plasma levels of IGF1, IGFBP3 and mammographic density in this study of postmenopausal women.