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Items: 43

1.

X-Linked Congenital Stationary Night Blindness.

MacDonald IM, Hoang S, Tuupanen S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2008 Jan 16 [updated 2019 Jul 3].

2.

Contribution of allelic imbalance to colorectal cancer.

Palin K, Pitkänen E, Turunen M, Sahu B, Pihlajamaa P, Kivioja T, Kaasinen E, Välimäki N, Hänninen UA, Cajuso T, Aavikko M, Tuupanen S, Kilpivaara O, van den Berg L, Kondelin J, Tanskanen T, Katainen R, Grau M, Rauanheimo H, Plaketti RM, Taira A, Sulo P, Hartonen T, Dave K, Schmierer B, Botla S, Sokolova M, Vähärautio A, Gladysz K, Ongen H, Dermitzakis E, Bramsen JB, Ørntoft TF, Andersen CL, Ristimäki A, Lepistö A, Renkonen-Sinisalo L, Mecklin JP, Taipale J, Aaltonen LA.

Nat Commun. 2018 Sep 10;9(1):3664. doi: 10.1038/s41467-018-06132-1.

3.

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Kondelin J, Salokas K, Saarinen L, Ovaska K, Rauanheimo H, Plaketti RM, Hamberg J, Liu X, Yadav L, Gylfe AE, Cajuso T, Hänninen UA, Palin K, Ristolainen H, Katainen R, Kaasinen E, Tanskanen T, Aavikko M, Taipale M, Taipale J, Renkonen-Sinisalo L, Lepistö A, Koskensalo S, Böhm J, Mecklin JP, Ongen H, Dermitzakis ET, Kilpivaara O, Vahteristo P, Turunen M, Hautaniemi S, Tuupanen S, Karhu A, Välimäki N, Varjosalo M, Pitkänen E, Aaltonen LA.

EMBO Mol Med. 2018 Sep;10(9). pii: e8552. doi: 10.15252/emmm.201708552.

4.

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.

5.

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.

6.

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.

7.

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.

8.

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.

9.

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.

10.

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
11.

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
12.

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
13.

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
14.

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.

15.

Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer.

Cajuso T, Hänninen UA, Kondelin J, Gylfe AE, Tanskanen T, Katainen R, Pitkänen E, Ristolainen H, Kaasinen E, Taipale M, Taipale J, Böhm J, Renkonen-Sinisalo L, Mecklin JP, Järvinen H, Tuupanen S, Kilpivaara O, Vahteristo P.

Int J Cancer. 2014 Aug 1;135(3):611-23. doi: 10.1002/ijc.28705. Epub 2014 Jan 13.

16.

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.

17.

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.

18.

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
19.

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
20.

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.

21.

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Järvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S.

Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6.

PMID:
22960657
22.

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals.

Dunlop MG, Tenesa A, Farrington SM, Ballereau S, Brewster DH, Koessler T, Pharoah P, Schafmayer C, Hampe J, Völzke H, Chang-Claude J, Hoffmeister M, Brenner H, von Holst S, Picelli S, Lindblom A, Jenkins MA, Hopper JL, Casey G, Duggan D, Newcomb PA, Abulí A, Bessa X, Ruiz-Ponte C, Castellví-Bel S, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Zanke B, Hudson T, Gallinger S, Barclay E, Martin L, Gorman M, Carvajal-Carmona L, Walther A, Kerr D, Lubbe S, Broderick P, Chandler I, Pittman A, Penegar S, Campbell H, Tomlinson I, Houlston RS.

Gut. 2013 Jun;62(6):871-81. doi: 10.1136/gutjnl-2011-300537. Epub 2012 Apr 5.

23.

Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583.

Tuupanen S, Yan J, Turunen M, Gylfe AE, Kaasinen E, Li L, Eng C, Culver DA, Kalady MF, Pennison MJ, Pasche B, Manne U, de la Chapelle A, Hampel H, Henderson BE, Marchand LL, Hautaniemi S, Askhtorab H, Smoot D, Sandler RS, Keku T, Kupfer SS, Ellis NA, Haiman CA, Taipale J, Aaltonen LA.

Cancer Genet. 2012 Jan-Feb;205(1-2):25-33. doi: 10.1016/j.cancergen.2012.01.005.

24.

Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer.

Coissieux MM, Tomsic J, Castets M, Hampel H, Tuupanen S, Andrieu N, Comeras I, Drouet Y, Lasset C, Liyanarachchi S, Mazelin L, Puisieux A, Saurin JC, Scoazec JY, Wang Q, Aaltonen L, Tanner SM, de la Chapelle A, Bernet A, Mehlen P.

Gastroenterology. 2011 Dec;141(6):2039-46. doi: 10.1053/j.gastro.2011.08.041. Epub 2011 Sep 3.

25.

Candidate driver genes in microsatellite-unstable colorectal cancer.

Alhopuro P, Sammalkorpi H, Niittymäki I, Biström M, Raitila A, Saharinen J, Nousiainen K, Lehtonen HJ, Heliövaara E, Puhakka J, Tuupanen S, Sousa S, Seruca R, Ferreira AM, Hofstra RM, Mecklin JP, Järvinen H, Ristimäki A, Orntoft TF, Hautaniemi S, Arango D, Karhu A, Aaltonen LA.

Int J Cancer. 2012 Apr 1;130(7):1558-66. doi: 10.1002/ijc.26167. Epub 2011 Aug 3.

26.

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

Niittymäki I, Tuupanen S, Li Y, Järvinen H, Mecklin JP, Tomlinson IP, Houlston RS, Karhu A, Aaltonen LA.

BMC Med Genet. 2011 Feb 14;12:23. doi: 10.1186/1471-2350-12-23.

27.

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.

Houlston RS, Cheadle J, Dobbins SE, Tenesa A, Jones AM, Howarth K, Spain SL, Broderick P, Domingo E, Farrington S, Prendergast JG, Pittman AM, Theodoratou E, Smith CG, Olver B, Walther A, Barnetson RA, Churchman M, Jaeger EE, Penegar S, Barclay E, Martin L, Gorman M, Mager R, Johnstone E, Midgley R, Niittymäki I, Tuupanen S, Colley J, Idziaszczyk S; COGENT Consortium, Thomas HJ, Lucassen AM, Evans DG, Maher ER; CORGI Consortium; COIN Collaborative Group; COINB Collaborative Group, Maughan T, Dimas A, Dermitzakis E, Cazier JB, Aaltonen LA, Pharoah P, Kerr DJ, Carvajal-Carmona LG, Campbell H, Dunlop MG, Tomlinson IP.

Nat Genet. 2010 Nov;42(11):973-7. doi: 10.1038/ng.670. Epub 2010 Oct 24.

28.

No evidence of RET germline mutations in familial pituitary adenoma.

Heliövaara E, Tuupanen S, Ahlsten M, Hodgson S, de Menis E, Kuismin O, Izatt L, McKinlay Gardner RJ, Gundogdu S, Lucassen A, Arola J, Tuomisto A, Mäkinen M, Karhu A, Aaltonen LA.

J Mol Endocrinol. 2010 Dec 21;46(1):1-8. doi: 10.1677/JME-10-0052. Print 2011 Feb.

PMID:
20956458
29.

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

Pittman AM, Naranjo S, Jalava SE, Twiss P, Ma Y, Olver B, Lloyd A, Vijayakrishnan J, Qureshi M, Broderick P, van Wezel T, Morreau H, Tuupanen S, Aaltonen LA, Alonso ME, Manzanares M, Gavilán A, Visakorpi T, Gómez-Skarmeta JL, Houlston RS.

PLoS Genet. 2010 Sep 16;6(9):e1001126. doi: 10.1371/journal.pgen.1001126.

30.

Mutations in the circadian gene CLOCK in colorectal cancer.

Alhopuro P, Björklund M, Sammalkorpi H, Turunen M, Tuupanen S, Biström M, Niittymäki I, Lehtonen HJ, Kivioja T, Launonen V, Saharinen J, Nousiainen K, Hautaniemi S, Nuorva K, Mecklin JP, Järvinen H, Orntoft T, Arango D, Lehtonen R, Karhu A, Taipale J, Aaltonen LA.

Mol Cancer Res. 2010 Jul;8(7):952-60. doi: 10.1158/1541-7786.MCR-10-0086. Epub 2010 Jun 15.

31.

Low-penetrance susceptibility variants in familial colorectal cancer.

Niittymäki I, Kaasinen E, Tuupanen S, Karhu A, Järvinen H, Mecklin JP, Tomlinson IP, Di Bernardo MC, Houlston RS, Aaltonen LA.

Cancer Epidemiol Biomarkers Prev. 2010 Jun;19(6):1478-83. doi: 10.1158/1055-9965.EPI-09-1320. Epub 2010 May 25.

32.

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

Tomlinson IP, Dunlop M, Campbell H, Zanke B, Gallinger S, Hudson T, Koessler T, Pharoah PD, Niittymäki I, Tuupanen S, Aaltonen LA, Hemminki K, Lindblom A, Försti A, Sieber O, Lipton L, van Wezel T, Morreau H, Wijnen JT, Devilee P, Matsuda K, Nakamura Y, Castellví-Bel S, Ruiz-Ponte C, Castells A, Carracedo A, Ho JW, Sham P, Hofstra RM, Vodicka P, Brenner H, Hampe J, Schafmayer C, Tepel J, Schreiber S, Völzke H, Lerch MM, Schmidt CA, Buch S, Moreno V, Villanueva CM, Peterlongo P, Radice P, Echeverry MM, Velez A, Carvajal-Carmona L, Scott R, Penegar S, Broderick P, Tenesa A, Houlston RS.

Br J Cancer. 2010 Jan 19;102(2):447-54. doi: 10.1038/sj.bjc.6605338. Epub 2009 Nov 17. Erratum in: Br J Cancer. 2010 Jan 19;102(2):455. Niittymäkix, I [corrected to Niittymäki, I]; Tuupanenx, S [corrected to Tuupanen, S].

33.

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

Tuupanen S, Turunen M, Lehtonen R, Hallikas O, Vanharanta S, Kivioja T, Björklund M, Wei G, Yan J, Niittymäki I, Mecklin JP, Järvinen H, Ristimäki A, Di-Bernardo M, East P, Carvajal-Carmona L, Houlston RS, Tomlinson I, Palin K, Ukkonen E, Karhu A, Taipale J, Aaltonen LA.

Nat Genet. 2009 Aug;41(8):885-90. doi: 10.1038/ng.406. Epub 2009 Jun 28.

PMID:
19561604
34.

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

COGENT Study, Houlston RS, Webb E, Broderick P, Pittman AM, Di Bernardo MC, Lubbe S, Chandler I, Vijayakrishnan J, Sullivan K, Penegar S; Colorectal Cancer Association Study Consortium, Carvajal-Carmona L, Howarth K, Jaeger E, Spain SL, Walther A, Barclay E, Martin L, Gorman M, Domingo E, Teixeira AS; CoRGI Consortium, Kerr D, Cazier JB, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Tomlinson IP, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Cetnarskyj R, Porteous ME, Pharoah PD, Koessler T, Hampe J, Buch S, Schafmayer C, Tepel J, Schreiber S, Völzke H, Chang-Claude J, Hoffmeister M, Brenner H, Zanke BW, Montpetit A, Hudson TJ, Gallinger S, Campbell H, Dunlop MG.

Nat Genet. 2008 Dec;40(12):1426-35. doi: 10.1038/ng.262. Epub 2008 Nov 16.

35.

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.

Pittman AM, Webb E, Carvajal-Carmona L, Howarth K, Di Bernardo MC, Broderick P, Spain S, Walther A, Price A, Sullivan K, Twiss P, Fielding S, Rowan A, Jaeger E, Vijayakrishnan J, Chandler I, Penegar S, Qureshi M, Lubbe S, Domingo E, Kemp Z, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop T, Gray R, Maher ER, Lucassen A, Kerr D, Evans GR; CORGI Consortium, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A; EPICOLON Consortium, Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Cazier JB, Tomlinson IP, Houlston RS.

Hum Mol Genet. 2008 Dec 1;17(23):3720-7. doi: 10.1093/hmg/ddn267. Epub 2008 Aug 27.

PMID:
18753146
36.

Unregulated smooth-muscle myosin in human intestinal neoplasia.

Alhopuro P, Phichith D, Tuupanen S, Sammalkorpi H, Nybondas M, Saharinen J, Robinson JP, Yang Z, Chen LQ, Orntoft T, Mecklin JP, Järvinen H, Eng C, Moeslein G, Shibata D, Houlston RS, Lucassen A, Tomlinson IP, Launonen V, Ristimäki A, Arango D, Karhu A, Sweeney HL, Aaltonen LA.

Proc Natl Acad Sci U S A. 2008 Apr 8;105(14):5513-8. doi: 10.1073/pnas.0801213105. Epub 2008 Apr 7.

37.

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.

Tomlinson IP, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, Spain S, Lubbe S, Walther A, Sullivan K, Jaeger E, Fielding S, Rowan A, Vijayakrishnan J, Domingo E, Chandler I, Kemp Z, Qureshi M, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Penegar S, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop DT, Gray R, Maher ER, Lucassen A, Kerr D, Evans DG; CORGI Consortium, Schafmayer C, Buch S, Völzke H, Hampe J, Schreiber S, John U, Koessler T, Pharoah P, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A; EPICOLON Consortium, Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Cazier JB, Campbell H, Dunlop MG, Houlston RS.

Nat Genet. 2008 May;40(5):623-30. doi: 10.1038/ng.111. Epub 2008 Mar 30.

PMID:
18372905
38.

Allelic imbalance at rs6983267 suggests selection of the risk allele in somatic colorectal tumor evolution.

Tuupanen S, Niittymäki I, Nousiainen K, Vanharanta S, Mecklin JP, Nuorva K, Järvinen H, Hautaniemi S, Karhu A, Aaltonen LA.

Cancer Res. 2008 Jan 1;68(1):14-7. doi: 10.1158/0008-5472.CAN-07-5766.

39.

Computational identification of candidate loci for recessively inherited mutation using high-throughput SNP arrays.

Laakso M, Tuupanen S, Karhu A, Lehtonen R, Aaltonen LA, Hautaniemi S.

Bioinformatics. 2007 Aug 1;23(15):1952-61. Epub 2007 May 17.

PMID:
17510170
40.

No evidence for association of NOD2 R702W and G908R with colorectal cancer.

Tuupanen S, Alhopuro P, Mecklin JP, Järvinen H, Aaltonen LA.

Int J Cancer. 2007 Jul 1;121(1):76-9.

41.

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer.

Tuupanen S, Karhu A, Järvinen H, Mecklin JP, Launonen V, Aaltonen LA.

Oncogene. 2007 Apr 12;26(17):2513-7. Epub 2006 Oct 9.

PMID:
17043646
42.

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.

Lauronen L, Jalkanen R, Huttunen J, Carlsson E, Tuupanen S, Lindh S, Forsius H, Sankila EM, Alitalo T.

Br J Ophthalmol. 2005 Jul;89(7):820-4.

43.

A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families.

Tyynismaa H, Sistonen P, Tuupanen S, Tervo T, Dammert A, Latvala T, Alitalo T.

Invest Ophthalmol Vis Sci. 2002 Oct;43(10):3160-4.

PMID:
12356819

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