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Page 1
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, Lindblom A, Nilbert M. Lagerstedt-Robinson K, et al. Among authors: aravidis c. Oncol Rep. 2016 Nov;36(5):2823-2835. doi: 10.3892/or.2016.5060. Epub 2016 Sep 1. Oncol Rep. 2016. PMID: 27601186 Free article.
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families.
Karimi M, von Salomé J, Aravidis C, Silander G, Askmalm MS, Henriksson I, Gebre-Medhin S, Frödin JE, Björck E, Lagerstedt-Robinson K, Lindblom A, Tham E. Karimi M, et al. Among authors: aravidis c. Hered Cancer Clin Pract. 2018 Oct 23;16:16. doi: 10.1186/s13053-018-0098-9. eCollection 2018. Hered Cancer Clin Pract. 2018. PMID: 30386444 Free PMC article.
Genetic anticipation in Swedish Lynch syndrome families.
von Salomé J, Boonstra PS, Karimi M, Silander G, Stenmark-Askmalm M, Gebre-Medhin S, Aravidis C, Nilbert M, Lindblom A, Lagerstedt-Robinson K. von Salomé J, et al. Among authors: aravidis c. PLoS Genet. 2017 Oct 31;13(10):e1007012. doi: 10.1371/journal.pgen.1007012. eCollection 2017 Oct. PLoS Genet. 2017. PMID: 29088233 Free PMC article.
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
Jiao X, Aravidis C, Marikkannu R, Rantala J, Picelli S, Adamovic T, Liu T, Maguire P, Kremeyer B, Luo L, von Holst S, Kontham V, Thutkawkorapin J, Margolin S, Du Q, Lundin J, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Beckmann MW, Blomqvist C, Blot W, Boeckx B, Bojesen SE, Bonanni B, Brand JS, Brauch H, Brenner H, Broeks A, Brüning T, Burwinkel B, Cai Q, Chang-Claude J; NBCS Collaborators; Couch FJ, Cox A, Cross SS, Deming-Halverson SL, Devilee P, Dos-Santos-Silva I, Dörk T, Eriksson M, Fasching PA, Figueroa J, Flesch-Janys D, Flyger H, Gabrielson M, García-Closas M, Giles GG, González-Neira A, Guénel P, Guo Q, Gündert M, Haiman CA, Hallberg E, Hamann U, Harrington P, Hooning MJ, Hopper JL, Huang G, Jakubowska A, Jones ME, Kerin MJ, Kosma VM, Kristensen VN, Lambrechts D, Le Marchand L, Lubinski J, Mannermaa A, Martens JWM, Meindl A, Milne RL, Mulligan AM, Neuhausen SL, Nevanlinna H, Peto J, Pylkäs K, Radice P, Rhenius V, Sawyer EJ, Schmidt MK, Schmutzler RK, Seynaeve C, Shah M, Simard J, Southey MC, Swerdlow AJ, Truong T, Wendt C, Winqvist R, Zheng W; kConFab/AOCS Investigators; Benitez J, Dunning A… See abstract for full author list ➔ Jiao X, et al. Among authors: aravidis c. Oncotarget. 2017 Oct 12;8(61):102769-102782. doi: 10.18632/oncotarget.21800. eCollection 2017 Nov 28. Oncotarget. 2017. PMID: 29262523 Free PMC article.
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
Lagerstedt-Robinson K, Baranowska Körberg I, Tsiaprazis S, Björck E, Tham E, Poluha A, Hellström Pigg M, Paulsson-Karlsson Y, Nordenskjöld M, Johansson-Soller M, Aravidis C. Lagerstedt-Robinson K, et al. Among authors: aravidis c. PLoS One. 2022 Feb 17;17(2):e0264056. doi: 10.1371/journal.pone.0264056. eCollection 2022. PLoS One. 2022. PMID: 35176117 Free PMC article.
Muenke syndrome: An international multicenter natural history study.
Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M. Kruszka P, et al. Among authors: aravidis c. Am J Med Genet A. 2016 Apr;170A(4):918-29. doi: 10.1002/ajmg.a.37528. Epub 2016 Jan 6. Am J Med Genet A. 2016. PMID: 26740388
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
Olkinuora A, Nieminen TT, Mårtensson E, Rohlin A, Ristimäki A, Koskenvuo L, Lepistö A; Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group; Gebre-Medhin S, Nordling M, Peltomäki P. Olkinuora A, et al. Genet Med. 2019 Aug;21(8):1868-1873. doi: 10.1038/s41436-018-0405-x. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573798 Free PMC article.
18 results