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Page 1
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: alhopuro p. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
Loss of SUFU function in familial multiple meningioma.
Aavikko M, Li SP, Saarinen S, Alhopuro P, Kaasinen E, Morgunova E, Li Y, Vesanen K, Smith MJ, Evans DG, Pöyhönen M, Kiuru A, Auvinen A, Aaltonen LA, Taipale J, Vahteristo P. Aavikko M, et al. Among authors: alhopuro p. Am J Hum Genet. 2012 Sep 7;91(3):520-6. doi: 10.1016/j.ajhg.2012.07.015. Am J Hum Genet. 2012. PMID: 22958902 Free PMC article.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-Cousin L, Mastronuzzi A, Pastorino L, Pfister SM, Schroeder C, Smith MJ, Vahteristo P, Vibert R, Vilain C, Waespe N, Winship IM, Evans DG, Brugieres L. Guerrini-Rousseau L, et al. Among authors: alhopuro p. J Med Genet. 2022 Jun 29;59(11):1123-32. doi: 10.1136/jmedgenet-2021-108385. Online ahead of print. J Med Genet. 2022. PMID: 35768194 Free PMC article.
The MDM2 promoter polymorphism SNP309T-->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck.
Alhopuro P, Ylisaukko-Oja SK, Koskinen WJ, Bono P, Arola J, Järvinen HJ, Mecklin JP, Atula T, Kontio R, Mäkitie AA, Suominen S, Leivo I, Vahteristo P, Aaltonen LM, Aaltonen LA. Alhopuro P, et al. J Med Genet. 2005 Sep;42(9):694-8. doi: 10.1136/jmg.2005.031260. J Med Genet. 2005. PMID: 16141004 Free PMC article.
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M. Revencu N, et al. Among authors: alhopuro p. Orphanet J Rare Dis. 2024 May 22;19(1):213. doi: 10.1186/s13023-024-03196-9. Orphanet J Rare Dis. 2024. PMID: 38778413 Free PMC article.
An insertion/deletion polymorphism in the alpha2B-adrenergic receptor gene is a novel genetic risk factor for acute coronary events.
Snapir A, Heinonen P, Tuomainen TP, Alhopuro P, Karvonen MK, Lakka TA, Nyyssönen K, Salonen R, Kauhanen J, Valkonen VP, Pesonen U, Koulu M, Scheinin M, Salonen JT. Snapir A, et al. Among authors: alhopuro p. J Am Coll Cardiol. 2001 May;37(6):1516-22. doi: 10.1016/s0735-1097(01)01201-3. J Am Coll Cardiol. 2001. PMID: 11345359 Free article.
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.
Oliveira C, Westra JL, Arango D, Ollikainen M, Domingo E, Ferreira A, Velho S, Niessen R, Lagerstedt K, Alhopuro P, Laiho P, Veiga I, Teixeira MR, Ligtenberg M, Kleibeuker JH, Sijmons RH, Plukker JT, Imai K, Lage P, Hamelin R, Albuquerque C, Schwartz S Jr, Lindblom A, Peltomaki P, Yamamoto H, Aaltonen LA, Seruca R, Hofstra RM. Oliveira C, et al. Among authors: alhopuro p. Hum Mol Genet. 2004 Oct 1;13(19):2303-11. doi: 10.1093/hmg/ddh238. Epub 2004 Aug 4. Hum Mol Genet. 2004. PMID: 15294875
The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians.
Knappskog S, Bjørnslett M, Myklebust LM, Huijts PE, Vreeswijk MP, Edvardsen H, Guo Y, Zhang X, Yang M, Ylisaukko-Oja SK, Alhopuro P, Arola J, Tollenaar RA, van Asperen CJ, Seynaeve C, Staalesen V, Chrisanthar R, Løkkevik E, Salvesen HB, Evans DG, Newman WG, Lin D, Aaltonen LA, Børresen-Dale AL, Tell GS, Stoltenberg C, Romundstad P, Hveem K, Lillehaug JR, Vatten L, Devilee P, Dørum A, Lønning PE. Knappskog S, et al. Among authors: alhopuro p. Cancer Cell. 2011 Feb 15;19(2):273-82. doi: 10.1016/j.ccr.2010.12.019. Cancer Cell. 2011. PMID: 21316605 Free article.
32 results