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Items: 1 to 50 of 284

1.

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Hänninen UA, Katainen R, Tanskanen T, Plaketti RM, Laine R, Hamberg J, Ristimäki A, Pukkala E, Taipale M, Mecklin JP, Forsström LM, Pitkänen E, Palin K, Välimäki N, Mäkinen N, Aaltonen LA.

PLoS Genet. 2018 Mar 9;14(3):e1007200. doi: 10.1371/journal.pgen.1007200. eCollection 2018 Mar.

2.

Oncogenic exon 2 mutations in Mediator subunit MED12 disrupt allosteric activation of cyclin C-CDK8/19.

Park MJ, Shen H, Spaeth JM, Tolvanen JH, Failor C, Knudtson JF, McLaughlin J, Halder SK, Yang Q, Bulun SE, Al-Hendy A, Schenken RS, Aaltonen LA, Boyer TG.

J Biol Chem. 2018 Mar 30;293(13):4870-4882. doi: 10.1074/jbc.RA118.001725. Epub 2018 Feb 13.

PMID:
29440396
3.

Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing.

Pradhan B, Cajuso T, Katainen R, Sulo P, Tanskanen T, Kilpivaara O, Pitkänen E, Aaltonen LA, Kauppi L, Palin K.

Sci Rep. 2017 Nov 6;7(1):14521. doi: 10.1038/s41598-017-15076-3.

4.

Global metabolomic profiling of uterine leiomyomas.

Heinonen HR, Mehine M, Mäkinen N, Pasanen A, Pitkänen E, Karhu A, Sarvilinna NS, Sjöberg J, Heikinheimo O, Bützow R, Aaltonen LA, Kaasinen E.

Br J Cancer. 2017 Dec 5;117(12):1855-1864. doi: 10.1038/bjc.2017.361. Epub 2017 Oct 26.

PMID:
29073636
5.

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

Tanskanen T, van den Berg L, Välimäki N, Aavikko M, Ness-Jensen E, Hveem K, Wettergren Y, Bexe Lindskog E, Tõnisson N, Metspalu A, Silander K, Orlando G, Law PJ, Tuupanen S, Gylfe AE, Hänninen UA, Cajuso T, Kondelin J, Sarin AP, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Tenesa A, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper J, Jenkins MA, Newcomb PA, Gallinger S, Conti D, Schumacher FR, Casey G, Cheadle JP, Dunlop MG, Tomlinson IP, Houlston RS, Palin K, Aaltonen LA.

Int J Cancer. 2018 Feb 1;142(3):540-546. doi: 10.1002/ijc.31076. Epub 2017 Oct 12.

PMID:
28960316
6.

Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas.

Forsström LM, Sumi K, Mäkinen MJ, Oh JE, Herva R, Kleihues P, Ohgaki H, Aaltonen LA.

J Neuropathol Exp Neurol. 2017 Oct 1;76(10):848-853. doi: 10.1093/jnen/nlx066.

PMID:
28922847
7.

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis.

May-Wilson S, Sud A, Law PJ, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Fisher D, Kerr R, Kerr D, Passarelli MN, Figueiredo JC, Buchanan DD, Win AK, Hopper JL, Jenkins MA, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Aaltonen LA, Cheadle JP, Tomlinson IP, Dunlop MG, Houlston RS.

Eur J Cancer. 2017 Oct;84:228-238. doi: 10.1016/j.ejca.2017.07.034. Epub 2017 Aug 19.

8.

Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer.

Kondelin J, Gylfe AE, Lundgren S, Tanskanen T, Hamberg J, Aavikko M, Palin K, Ristolainen H, Katainen R, Kaasinen E, Taipale M, Taipale J, Renkonen-Sinisalo L, Järvinen H, Böhm J, Mecklin JP, Vahteristo P, Tuupanen S, Aaltonen LA, Pitkänen E.

Cancer Res. 2017 Aug 1;77(15):4078-4088. doi: 10.1158/0008-5472.CAN-17-0682. Epub 2017 Jun 13.

PMID:
28611049
9.

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas.

Heinonen HR, Pasanen A, Heikinheimo O, Tanskanen T, Palin K, Tolvanen J, Vahteristo P, Sjöberg J, Pitkänen E, Bützow R, Mäkinen N, Aaltonen LA.

Sci Rep. 2017 Apr 21;7(1):1015. doi: 10.1038/s41598-017-01199-0.

10.

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.

Hirvonen EAM, Pitkänen E, Hemminki K, Aaltonen LA, Kilpivaara O.

Hum Genomics. 2017 Apr 20;11(1):6. doi: 10.1186/s40246-017-0102-x.

11.

Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei.

Saarinen L, Nummela P, Thiel A, Lehtonen R, Järvinen P, Järvinen H, Aaltonen LA, Lepistö A, Hautaniemi S, Ristimäki A.

PLoS One. 2017 Apr 20;12(4):e0174898. doi: 10.1371/journal.pone.0174898. eCollection 2017.

12.

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer.

Rodriguez-Broadbent H, Law PJ, Sud A, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Ripatti S, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Palotie A, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Passarelli MN, Figueiredo JC, Buchanan DD, Win AK, Hopper JL, Jenkins MA, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Aaltonen LA, Cheadle JP, Tomlinson IP, Dunlop MG, Houlston RS.

Int J Cancer. 2017 Jun 15;140(12):2701-2708. doi: 10.1002/ijc.30709. Epub 2017 Apr 6.

13.

Candidate susceptibility variants for esophageal squamous cell carcinoma.

Donner I, Katainen R, Tanskanen T, Kaasinen E, Aavikko M, Ovaska K, Artama M, Pukkala E, Aaltonen LA.

Genes Chromosomes Cancer. 2017 Jun;56(6):453-459. doi: 10.1002/gcc.22448. Epub 2017 Apr 3.

PMID:
28165652
14.

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.

Orlando G, Law PJ, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Kaprio J, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Tenesa A, Farrington S, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Taipale J, Cheadle JP, Dunlop MG, Tomlinson IP, Aaltonen LA, Houlston RS.

Hum Mol Genet. 2016 Jun 1;25(11):2349-2359. Epub 2016 Mar 22.

15.

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer.

Jarvis D, Mitchell JS, Law PJ, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Kaprio J, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Meklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper JL, Jenkins MA, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Taipale J, Aaltonen LA, Cheadle JP, Dunlop MG, Tomlinson IP, Houlston RS.

Br J Cancer. 2016 Jul 12;115(2):266-72. doi: 10.1038/bjc.2016.188. Epub 2016 Jun 23.

16.

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Kämpjärvi K, Mäkinen N, Mehine M, Välipakka S, Uimari O, Pitkänen E, Heinonen HR, Heikkinen T, Tolvanen J, Ahtikoski A, Frizzell N, Sarvilinna N, Sjöberg J, Bützow R, Aaltonen LA, Vahteristo P.

Br J Cancer. 2016 Jun 14;114(12):1405-11. doi: 10.1038/bjc.2016.130. Epub 2016 May 17.

17.

Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.

Mehine M, Kaasinen E, Heinonen HR, Mäkinen N, Kämpjärvi K, Sarvilinna N, Aavikko M, Vähärautio A, Pasanen A, Bützow R, Heikinheimo O, Sjöberg J, Pitkänen E, Vahteristo P, Aaltonen LA.

Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1315-20. doi: 10.1073/pnas.1518752113. Epub 2016 Jan 19.

18.

Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.

Välimäki N, Demir H, Pitkänen E, Kaasinen E, Karppinen A, Kivipelto L, Schalin-Jäntti C, Aaltonen LA, Karhu A.

J Clin Endocrinol Metab. 2015 Oct;100(10):3918-27. doi: 10.1210/jc.2015-3129. Epub 2015 Aug 17.

PMID:
26280510
19.

CTCF/cohesin-binding sites are frequently mutated in cancer.

Katainen R, Dave K, Pitkänen E, Palin K, Kivioja T, Välimäki N, Gylfe AE, Ristolainen H, Hänninen UA, Cajuso T, Kondelin J, Tanskanen T, Mecklin JP, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Kaasinen E, Kilpivaara O, Tuupanen S, Enge M, Taipale J, Aaltonen LA.

Nat Genet. 2015 Jul;47(7):818-21. doi: 10.1038/ng.3335. Epub 2015 Jun 8.

PMID:
26053496
20.

Clonally related uterine leiomyomas are common and display branched tumor evolution.

Mehine M, Heinonen HR, Sarvilinna N, Pitkänen E, Mäkinen N, Katainen R, Tuupanen S, Bützow R, Sjöberg J, Aaltonen LA.

Hum Mol Genet. 2015 Aug 1;24(15):4407-16. doi: 10.1093/hmg/ddv177. Epub 2015 May 10.

PMID:
25964426
21.

3'-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity.

Kondelin J, Tuupanen S, Gylfe AE, Aavikko M, Renkonen-Sinisalo L, Järvinen H, Böhm J, Mecklin JP, Andersen CL, Vahteristo P, Pitkänen E, Aaltonen LA.

Fam Cancer. 2015 Sep;14(3):449-53. doi: 10.1007/s10689-015-9804-1.

PMID:
25930744
22.

Systematic search for rare variants in Finnish early-onset colorectal cancer patients.

Tanskanen T, Gylfe AE, Katainen R, Taipale M, Renkonen-Sinisalo L, Järvinen H, Mecklin JP, Böhm J, Kilpivaara O, Pitkänen E, Palin K, Vahteristo P, Tuupanen S, Aaltonen LA.

Cancer Genet. 2015 Jan-Feb;208(1-2):35-40. doi: 10.1016/j.cancergen.2014.12.004. Epub 2014 Dec 31.

PMID:
25749350
23.

Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing.

Ristolainen H, Kilpivaara O, Kamper P, Taskinen M, Saarinen S, Leppä S, d'Amore F, Aaltonen LA.

Br J Haematol. 2015 Aug;170(3):428-31. doi: 10.1111/bjh.13295. Epub 2015 Feb 25. No abstract available.

PMID:
25715982
24.

Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer.

Donner I, Kiviluoto T, Ristimäki A, Aaltonen LA, Vahteristo P.

Fam Cancer. 2015 Jun;14(2):241-6. doi: 10.1007/s10689-015-9778-z.

PMID:
25576241
25.

Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma.

Aavikko M, Kaasinen E, Nieminen JK, Byun M, Donner I, Mancuso R, Ferrante P, Clerici M, Brambilla L, Tourlaki A, Sarid R, Guttman-Yassky E, Taipale M, Morgunova E, Pekkonen P, Ojala PM, Pukkala E, Casanova JL, Vaarala O, Vahteristo P, Aaltonen LA.

J Infect Dis. 2015 Jun 1;211(11):1842-51. doi: 10.1093/infdis/jiu667. Epub 2014 Dec 9.

PMID:
25492914
26.

Genomic profile of pseudomyxoma peritonei analyzed using next-generation sequencing and immunohistochemistry.

Nummela P, Saarinen L, Thiel A, Järvinen P, Lehtonen R, Lepistö A, Järvinen H, Aaltonen LA, Hautaniemi S, Ristimäki A.

Int J Cancer. 2015 Mar 1;136(5):E282-9. doi: 10.1002/ijc.29245. Epub 2014 Oct 13.

27.

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

Ferreira AM, Tuominen I, Sousa S, Gerbens F, van Dijk-Bos K, Osinga J, Kooi KA, Sanjabi B, Esendam C, Oliveira C, Terpstra P, Hardonk M, van der Sluis T, Zazula M, Stachura J, van der Zee AG, Hollema H, Sijmons RH, Aaltonen LA, Seruca R, Hofstra RM, Westers H.

Hum Mutat. 2014 Dec;35(12):1514-23. doi: 10.1002/humu.22700.

PMID:
25231886
28.

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

Ferreira AM, Tuominen I, van Dijk-Bos K, Sanjabi B, van der Sluis T, van der Zee AG, Hollema H, Zazula M, Sijmons RH, Aaltonen LA, Westers H, Hofstra RM.

Hum Mutat. 2014 Dec;35(12):1442-5. doi: 10.1002/humu.22686.

PMID:
25196364
29.

Identification of 33 candidate oncogenes by screening for base-specific mutations.

Tuupanen S, Hänninen UA, Kondelin J, von Nandelstadh P, Cajuso T, Gylfe AE, Katainen R, Tanskanen T, Ristolainen H, Böhm J, Mecklin JP, Järvinen H, Renkonen-Sinisalo L, Andersen CL, Taipale M, Taipale J, Vahteristo P, Lehti K, Pitkänen E, Aaltonen LA.

Br J Cancer. 2014 Oct 14;111(8):1657-62. doi: 10.1038/bjc.2014.429. Epub 2014 Aug 12.

30.

MED12 mutation frequency in unselected sporadic uterine leiomyomas.

Heinonen HR, Sarvilinna NS, Sjöberg J, Kämpjärvi K, Pitkänen E, Vahteristo P, Mäkinen N, Aaltonen LA.

Fertil Steril. 2014 Oct;102(4):1137-42. doi: 10.1016/j.fertnstert.2014.06.040. Epub 2014 Aug 6.

PMID:
25108465
31.

Genomics of uterine leiomyomas: insights from high-throughput sequencing.

Mehine M, Mäkinen N, Heinonen HR, Aaltonen LA, Vahteristo P.

Fertil Steril. 2014 Sep;102(3):621-9. doi: 10.1016/j.fertnstert.2014.06.050. Epub 2014 Aug 5. Review.

PMID:
25106763
32.

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA.

Eur J Med Genet. 2014 Oct;57(10):543-51. doi: 10.1016/j.ejmg.2014.07.002. Epub 2014 Jul 29.

PMID:
25078763
33.

Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.

Turunen M, Spaeth JM, Keskitalo S, Park MJ, Kivioja T, Clark AD, Mäkinen N, Gao F, Palin K, Nurkkala H, Vähärautio A, Aavikko M, Kämpjärvi K, Vahteristo P, Kim CA, Aaltonen LA, Varjosalo M, Taipale J, Boyer TG.

Cell Rep. 2014 May 8;7(3):654-60. doi: 10.1016/j.celrep.2014.03.047. Epub 2014 Apr 18.

34.

Mutation analysis of components of the Mediator kinase module in MED12 mutation-negative uterine leiomyomas.

Mäkinen N, Heinonen HR, Sjöberg J, Taipale J, Vahteristo P, Aaltonen LA.

Br J Cancer. 2014 Apr 29;110(9):2246-9. doi: 10.1038/bjc.2014.138. Epub 2014 Mar 18.

35.

Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer.

Pitkänen E, Cajuso T, Katainen R, Kaasinen E, Välimäki N, Palin K, Taipale J, Aaltonen LA, Kilpivaara O.

Oncotarget. 2014 Feb 15;5(3):853-9.

36.

Chromothripsis in uterine leiomyomas.

Mehine M, Kaasinen E, Aaltonen LA.

N Engl J Med. 2013 Nov 28;369(22):2160-1. doi: 10.1056/NEJMc1310230. No abstract available.

37.

Eleven candidate susceptibility genes for common familial colorectal cancer.

Gylfe AE, Katainen R, Kondelin J, Tanskanen T, Cajuso T, Hänninen U, Taipale J, Taipale M, Renkonen-Sinisalo L, Järvinen H, Mecklin JP, Kilpivaara O, Pitkänen E, Vahteristo P, Tuupanen S, Karhu A, Aaltonen LA.

PLoS Genet. 2013;9(10):e1003876. doi: 10.1371/journal.pgen.1003876. Epub 2013 Oct 17.

38.

Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas.

Mäkinen N, Vahteristo P, Bützow R, Sjöberg J, Aaltonen LA.

Int J Cancer. 2014 Feb 15;134(4):1008-12. doi: 10.1002/ijc.28410. Epub 2013 Aug 29.

39.

Lessons from functional analysis of genome-wide association studies.

Sur I, Tuupanen S, Whitington T, Aaltonen LA, Taipale J.

Cancer Res. 2013 Jul 15;73(14):4180-4. doi: 10.1158/0008-5472.CAN-13-0789. Epub 2013 Jul 5. Review.

40.

Characterization of uterine leiomyomas by whole-genome sequencing.

Mehine M, Kaasinen E, Mäkinen N, Katainen R, Kämpjärvi K, Pitkänen E, Heinonen HR, Bützow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjöberg J, Vahteristo P, Aaltonen LA.

N Engl J Med. 2013 Jul 4;369(1):43-53. doi: 10.1056/NEJMoa1302736. Epub 2013 Jun 5.

41.

Identification of candidate oncogenes in human colorectal cancers with microsatellite instability.

Gylfe AE, Kondelin J, Turunen M, Ristolainen H, Katainen R, Pitkänen E, Kaasinen E, Rantanen V, Tanskanen T, Varjosalo M, Lehtonen H, Palin K, Taipale M, Taipale J, Renkonen-Sinisalo L, Järvinen H, Böhm J, Mecklin JP, Ristimäki A, Kilpivaara O, Tuupanen S, Karhu A, Vahteristo P, Aaltonen LA.

Gastroenterology. 2013 Sep;145(3):540-3.e22. doi: 10.1053/j.gastro.2013.05.015. Epub 2013 May 16.

PMID:
23684749
42.

Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.

Tanskanen T, Gylfe AE, Katainen R, Taipale M, Renkonen-Sinisalo L, Mecklin JP, Järvinen H, Tuupanen S, Kilpivaara O, Vahteristo P, Aaltonen LA.

Scand J Gastroenterol. 2013 Jun;48(6):672-8. doi: 10.3109/00365521.2013.783102. Epub 2013 Apr 2.

PMID:
23544471
43.

Diagnostic cancer genome sequencing and the contribution of germline variants.

Kilpivaara O, Aaltonen LA.

Science. 2013 Mar 29;339(6127):1559-62. doi: 10.1126/science.1233899. Review.

PMID:
23539595
44.

Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.

Raizis AM, Van Mater D, Aaltonen LA, Lohmann D, Cheale MS, Bickley VM, George PM, Zhou Y, Rosoff PM.

Am J Med Genet A. 2013 May;161A(5):1096-100. doi: 10.1002/ajmg.a.35748. Epub 2013 Mar 5.

PMID:
23463749
45.

delGA (rs67491583) variant and colorectal cancer risk in an indigenous African population.

Ogundiran T, Tuupanen S, Aaltonen LA, Akarolo-Anthony S, Adebamowo C.

Afr J Med Med Sci. 2012 Sep;41(3):271-5.

PMID:
23457874
46.

Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

Saarinen S, Kaasinen E, Karjalainen-Lindsberg ML, Vesanen K, Aavikko M, Katainen R, Taskinen M, Kytölä S, Leppä S, Hietala M, Vahteristo P, Aaltonen LA.

Blood. 2013 Apr 25;121(17):3428-30. doi: 10.1182/blood-2012-06-437210. Epub 2013 Mar 1.

47.

MED12 exon 2 mutations in histopathological uterine leiomyoma variants.

Mäkinen N, Vahteristo P, Kämpjärvi K, Arola J, Bützow R, Aaltonen LA.

Eur J Hum Genet. 2013 Nov;21(11):1300-3. doi: 10.1038/ejhg.2013.33. Epub 2013 Feb 27.

48.

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

Ngeow J, Heald B, Rybicki LA, Orloff MS, Chen JL, Liu X, Yerian L, Willis J, Lehtonen HJ, Lehtonen R, Mester JL, Moline J, Burke CA, Church J, Aaltonen LA, Eng C.

Gastroenterology. 2013 Jun;144(7):1402-9, 1409.e1-5. doi: 10.1053/j.gastro.2013.02.001. Epub 2013 Feb 8.

49.

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Beckers A, Aaltonen LA, Daly AF, Karhu A.

Endocr Rev. 2013 Apr;34(2):239-77. doi: 10.1210/er.2012-1013. Epub 2013 Jan 31. Review.

50.

Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.

Kaasinen E, Aavikko M, Vahteristo P, Patama T, Li Y, Saarinen S, Kilpivaara O, Pitkänen E, Knekt P, Laaksonen M, Artama M, Lehtonen R, Aaltonen LA, Pukkala E.

PLoS One. 2013;8(1):e55209. doi: 10.1371/journal.pone.0055209. Epub 2013 Jan 24.

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