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Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. Frebourg T, et al. Eur J Hum Genet. 2020 Oct;28(10):1379-1386. doi: 10.1038/s41431-020-0638-4. Epub 2020 May 26. Eur J Hum Genet. 2020. PMID: 32457520 Free PMC article.
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
Tischkowitz M, Colas C, Pouwels S, Hoogerbrugge N; PHTS Guideline Development Group; European Reference Network GENTURIS. Tischkowitz M, et al. Eur J Hum Genet. 2020 Oct;28(10):1387-1393. doi: 10.1038/s41431-020-0651-7. Epub 2020 Jun 12. Eur J Hum Genet. 2020. PMID: 32533092 Free PMC article.
Reply to Kratz et al.
Frebourg T, Lagercrantz SB, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. Frebourg T, et al. Eur J Hum Genet. 2020 Nov;28(11):1483-1485. doi: 10.1038/s41431-020-00710-y. Epub 2020 Aug 13. Eur J Hum Genet. 2020. PMID: 32792624 Free PMC article. No abstract available.
Periapical cemental dysplasia is common in women with NF1.
Visnapuu V, Peltonen S, Ellilä T, Kerosuo E, Väänänen K, Happonen RP, Peltonen J. Visnapuu V, et al. Among authors: peltonen s, peltonen j. Eur J Med Genet. 2007 Jul-Aug;50(4):274-80. doi: 10.1016/j.ejmg.2007.04.001. Epub 2007 Apr 21. Eur J Med Genet. 2007. PMID: 17532280
Haploinsufficiency of the NF1 gene is associated with protection against diabetes.
Kallionpää RA, Peltonen S, Leppävirta J, Pöyhönen M, Auranen K, Järveläinen H, Peltonen J. Kallionpää RA, et al. Among authors: peltonen s, peltonen j. J Med Genet. 2021 Jun;58(6):378-384. doi: 10.1136/jmedgenet-2020-107062. Epub 2020 Jun 22. J Med Genet. 2021. PMID: 32571896 Free PMC article.
188 results