The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Neurofibromatosis type 1: from genotype to phenotype
Open accessAbstract
Although neurofibromatosis 1 (NF1) is a common Mendelian disorder with autosomal-dominant inheritance, its expression is highly variable and unpredictable. Many NF1 patients have been genotyped but few allele-phenotype correlations have been identified. NF1 genotype-phenotype correlations are difficult to identify because of the complexity of the NF1 phenotype, its strong age dependency, the relatedness of many clinical features and the huge heterogeneity of pathogenic NF1 mutations. Some NF1 patients with a given NF1 mutation may develop very severe disease while others with the same mutation have only mild symptoms. This phenotypic variability may be due to both modifier genes and environmental factors. Recent targeted strategies have identified several interesting candidate modifier genes.
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Cites
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013
Candidate-gene approaches for studying complex genetic traits: practical considerations
Tabor, H. K., Risch, N. J., & Myers, R. M. (2002) · Nature Reviews Genetics · doi:10.1038/nrg796 · Cited by 1,076
Missing heritability: paternal age effect mutations and selfish spermatogonia
Goriely, A., & Wilkie, A. O. M. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2809-c1 · Cited by 43
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Zhang, M., Wang, Y., Jones, S., Sausen, M., McMahon, K., Sharma, R., Wang, Q., Belzberg, A. J., Chaichana, K., Gallia, G. L., et al. (2014) · Nature Genetics · doi:10.1038/ng.3116 · Cited by 301
Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes
Taeubner, J., Wieczorek, D., Yasin, L., Brozou, T., Borkhardt, A., & Kuhlen, M. (2018) · Trends in Cancer · doi:10.1016/j.trecan.2018.09.002 · Cited by 56
Xie, R., Fu, K.-I., Chen, S.-M., Tuo, B.-G., & Wu, H.-C. (2018) · World Journal of Gastroenterology · doi:10.3748/wjg.v24.i33.3806 · Cited by 12
Metadata
- Authors
- Pasmant, E., Vidaud, M., Vidaud, D., & Wolkenstein, P.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2012-08
- Volume
- 49
- Issue
- 8
- Pages
- 483-489
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2119125765
- Cited by
- 162
- References
- 4
- FWCI
- 8.04
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Pasmant, E., Vidaud, M., Vidaud, D., & Wolkenstein, P. (2012). Neurofibromatosis type 1: from genotype to phenotype. Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2012-100978
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