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puh. +358-8-315 2011
faksi +358-8-315 3105
PL 5000
90014 Oulun yliopisto

Perinnöllisyyslääketiede/Clinical Genetics
Research - Tutkimus
Doctoral theses 1995-2009
Abstracts 1999-> see links - Oulun yliopiston elektroniset julkaisut
M.Sc. theses ("pro gradu") 1983-2007 - Oulun yliopiston perinnöllisyyslääketieteen klinikalta valmistuneet pro gradu-opinnäytteet 1983-2007
  • 1983 Liisa Vahtola
  • 1985 Kyllikki Haapala
  • 1987 Raija Heino
  • 1989 Marja-Leena Väisänen
  • 1989 Ritva Saastamoinen
  • 1989 Arto Mannermaa
  • 1992 Hannaleena Kokkonen
  • 1992 Ritva Haataja
  • 1993 Soili Kytölä
  • 1994 Juha Isosomppi
  • 1995 Aki Väyrynen
  • 1996 Kirsi Nevalainen
  • 1998 Kati Pääkkönen
  • 2000 Tuija Lundan
  • 2000 Minna Allinen
  • 2001 Jaana Lahti-Domenici
  • 2002 Sonja Kujala
  • 2002 Katri Heikkinen
  • 2002 Katrin Rapakko
  • 2002 Liisa Peri
  • 2003 Mari Laiti
  • 2003 Päivi Sarvanko
  • 2003 Christina Saarimaa
  • 2004 Hannele Erkko
  • 2004 Virpi Mansikka
  • 2005 Riikka Säynäjäkangas
  • 2005 Katri Kantojärvi
  • 2005 Elina Malo
  • 2006 Jenni Nikkilä
  • 2007 Susanna Ylönen
Selected publications - Valikoituja julkaisuja

See also all publications at Oulu university:

  • 2011 and newer
  • 2010
    • Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De Menis E, Montañana CF, Raverot G, Weil RJ, Sane T, Maiter D, Neggers S, Yaneva M, Tabarin A, Verrua E, Eloranta E, Murat A, Vierimaa O, Salmela PI, Emy P, Toledo RA, Sabaté MI, Villa C, Popelier M, Salvatori R, Jennings J, Longás AF, Labarta Aizpún JI, Georgitsi M, Paschke R, Ronchi C, Valimaki M, Saloranta C, De Herder W, Cozzi R, Guitelman M, Magri F, Lagonigro MS, Halaby G, Corman V, Hagelstein MT, Vanbellinghen JF, Barra GB, Gimenez-Roqueplo AP, Cameron FJ, Borson-Chazot F, Holdaway I, Toledo SP, Stalla GK, Spada A, Zacharieva S, Bertherat J, Brue T, Bours V, Chanson P, Aaltonen LA, Beckers A. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab. 2010 Nov;95(11):E373-83. Abstract
    • Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet. 2010 Oct;47(10):704-9. Abstract
    • Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Björck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomäki K, Aaltonen LA, Launonen V, Lehtonen R. No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome. Fam Cancer. 2010 Jun;9(2):245-51. Abstract
    • Siggberg L, Ala-Mello S, Jaakkola E, Kuusinen E, Schuit R, Kohlhase J, Böhm D, Ignatius J, Knuutila S. Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients. Am J Med Genet A. 2010 Jun;152A(6):1398-410. Abstract
    • Komulainen T, Hinttala R, Kärppä M, Pajunen L, Finnilä S, Tuominen H, Rantala H, Hassinen I, Majamaa K, Uusimaa J. POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype. BMC Neurol. 2010 May 3;10:29 Abstract
    • Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NG, Shao H, Wu BL, Ignatius J. ERCC6 founder mutation identified in Finnish patients with COFS syndrome. Clin Genet. 2010 Apr 20. [Epub ahead of print] Abstract
    • O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. Erratum in: J Clin Invest. 2010 Apr;120(4):1362. Jackson, Peter [corrected to Jackson, Peter K]. Abstract
    • Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitanska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8. Abstract
    • FROM CANCER GENETICS LABORATORY
      • Rio Frio T, Haanpää M, Pouchet C, Pylkäs K, Vuorela M, Tischkowitz M, Winqvist R, Foulkes WD. Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families. J Hum Genet. 2010 Dec;55(12):842-3. Epub 2010 Sep 16. Abstract
      • Karihtala P, Winqvist R, Bloigu R, Jukkola-Vuorinen A. Long-term observational follow-up study of breast cancer diagnosed in women ≤40 years old. Breast. 2010 Dec;19(6):456-61. Epub 2010 May 31. Abstract
      • Solyom S, Pylkäs K, Winqvist R. Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families. Fam Cancer. 2010 Dec;9(4):537-40. Abstract
      • Arason A, Gunnarsson H, Johannesdottir G, Jonasson K, Bendahl PO, Gillanders EM, Agnarsson BA, Jönsson G, Pylkäs K, Mustonen A, Heikkinen T, Aittomäki K, Blomqvist C, Melin B, Johannsson OT, Møller P, Winqvist R, Nevanlinna H, Borg A, Barkardottir RB. Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families. Breast Cancer Res. 2010;12(4):R50. Epub 2010 Jul 16. Abstract
      • Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D; EMBRACE, Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P; GEMO Study Collaborators, Hogervorst FB, Rookus MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, Gómez García EB; HEBON, Devilee P, Vreeswijk MP, Lubinski J, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Górski B, Cybulski C, Spurdle AB, Holland H; kConFab, Goldgar DE, John EM, Hopper JL, Southey M, Buys SS, Daly MB, Terry MB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Preisler-Adams S, Arnold N, Niederacher D, Sutter C, Domchek SM, Nathanson KL, Rebbeck T, Blum JL, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Blank SV, Friedman E, Kaufman B, Laitman Y, Milgrom R, Andrulis IL, Glendon G, Ozcelik H, Kirchhoff T, Vijai J, Gaudet MM, Altshuler D, Guiducci C; SWE-BRCA, Loman N, Harbst K, Rantala J, Ehrencrona H, Gerdes AM, Thomassen M, Sunde L, Peterlongo P, Manoukian S, Bonanni B, Viel A, Radice P, Caldes T, de la Hoya M, Singer CF, Fink-Retter A, Greene MH, Mai PL, Loud JT, Guidugli L, Lindor NM, Hansen TV, Nielsen FC, Blanco I, Lazaro C, Garber J, Ramus SJ, Gayther SA, Phelan C, Narod S, Szabo CI; MOD SQUAD, Benitez J, Osorio A, Nevanlinna H, Heikkinen T, Caligo MA, Beattie MS, Hamann U, Godwin AK, Montagna M, Casella C, Neuhausen SL, Karlan BY, Tung N, Toland AE, Weitzel J, Olopade O, Simard J, Soucy P, Rubinstein WS, Arason A, Rennert G, Martin NG, Montgomery GW, Chang-Claude J, Flesch-Janys D, Brauch H; GENICA, Severi G, Baglietto L, Cox A, Cross SS, Miron P, Gerty SM, Tapper W, Yannoukakos D, Fountzilas G, Fasching PA, Beckmann MW, Dos Santos Silva I, Peto J, Lambrechts D, Paridaens R, Rüdiger T, Försti A, Winqvist R, Pylkäs K, Diasio RB, Lee AM, Eckel-Passow J, Vachon C, Blows F, Driver K, Dunning A, Pharoah PP, Offit K, Pankratz VS, Hakonarson H, Chenevix-Trench G, Easton DF, Couch FJ. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet. 2010 Oct;42(10):885-92. Epub 2010 Sep 19. Abstract
      • Papp J, Kovacs ME, Solyom S, Kasler M, Børresen-Dale AL, Olah E. High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients. BMC Med Genet. 2010 Nov 30;11:169. Abstract
      • Rantakari P, Nikkilä J, Jokela H, Ola R, Pylkäs K, Lagerbohm H, Sainio K, Poutanen M, Winqvist R. Inactivation of Palb2 Gene Leads to Mesoderm Differentiation Defect and Early Embryonic Lethality in Mice. Hum Mol Genet. 2010 May 18. [Epub ahead of print] Abstract
      • Solyom S, Patterson-Fortin J, Pylkäs K, Greenberg RA, Winqvist R. Mutation screening of the MERIT40 gene encoding a novel BRCA1 and RAP80 interacting protein in breast cancer families. Breast Cancer Res Treat. 2010 Feb;120(1):165-8. Epub 2009 Jul 2. Abstract
  • 2009
    • Heliövaara E, Raitila A, Launonen V, Paetau A, Arola J, Lehtonen H, Sane T, Weil RJ, Vierimaa O, Salmela P, Tuppurainen K, Mäkinen M, Aaltonen LA, Karhu A. The Expression of AIP-Related Molecules in Elucidation of Cellular Pathways in Pituitary Adenomas. Am J Pathol . 2009 Dec;175(6):2501-7. Epub 2009 Oct 22. Abstract
    • Raitila A, Georgitsi M, Bonora E, Vargiolu M, Tuppurainen K, Mäkinen MJ, Vierimaa O, Salmela PI, Launonen V, Vahteristo P, Aaltonen LA, Romeo G, Karhu A. Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. J Endocrinol Invest. 2009 May;32(5):426-9. Abstract
    • Jaakkola E, Laine CM, Mäyränpää MK, Falck A, Ignatius J, Mäkitie O. Calvarial doughnut lesions and osteoporosis: a new three-generation family and review. Am J Med Genet A. 2009 Nov;149A(11):2371-7. Abstract
    • Peippo M, Valanne L, Perhomaa M, Toivanen L, Ignatius J. Weismann-Netter syndrome and mental retardation: a new patient and review of the literature. Am J Med Genet A. 2009 Nov;149A(11):2593-601. Abstract
    • Weiss LA, Arking DE & The Gene Discovery Project of Johns Hopkins & the Autism Consortium(MGH Oulu study Pauls D, Moilanen I, Ebeling H, Mattila M-L, Kuusikko S, Jussila K, Ignatius J). A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009 Oct 8;Vol 461:802-808. Abstract
    • Valinen Y, Laitinen P, Ranta J, Ignatius J, Jarvela I, Ryynänen M. Effect of a new marker, ADAM12, on Down risk figures in first trimester screening. J Matern Fetal Neonatal Med. 2009 Jul;22(7):602-7. Abstract
    • Dietz A, Löppönen T, Valtonen H, Hyvärinen A, Löppönen H. Prevalence and etiology of congenital or early acquired hearing impairment in Eastern Finland. Int J Pediatr Otorhinolaryngol. 2009 Jul 17. [Epub ahead of print]. Abstract
    • Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. Clin Genet. 2009 Jul;76(1):76-84. Abstract
    • Vierimaa O, Villablanca A, Alimov A, Georgitsi M, Raitila A, Vahteristo P, Larsson C, Ruokonen A, Eloranta E, Ebeling TM, Ignatius J, Aaltonen LA, Leisti J, Salmela PI. Mutation analysis of MEN1, HRPT2, CASR, CDKN1B and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. J Endocrinol Invest. 2009 Jun;32(6):512-8. Epub 2009 Mar 26. Abstract
    • Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, Laivuori H, Pöyhönen M, Sallinen SL, Wallgren-Pettersson C, Järvinen HJ, Mecklin JP, Peltomäki P. Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer. 2009 May 15;124(10):2333-40. Abstract
    • Mangelsdorf M, Chevrier E, Mustonen A, Picketts DJ. Borjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 Gene. J Child Neurol. 2009 May;24(5):610-4. Abstract
    • Nellist M, van den Heuvel D, Schluep D, Exalto C, Goedbloed M, Maat-Kievit A, van Essen T, van Spaendonck-Zwarts K, Jansen F, Helderman P, Bartalini G, Vierimaa O, Penttinen M, van den Ende J, van den Ouweland A, Halley D. Missense mutations to the TSC1 gene cause tuberous sclerosis complex. Eur J Hum Genet. 2009 Mar;17(3):319-28. Abstract
    • FROM CANCER GENETICS LABORATORY
      • Haanpää M, Reiman M, Nikkila J, Erkko H, Pylkas K, Winqvist R. Mutation analysis of the AATF gene in breast cancer families. BMC Cancer. 2009 Dec 21;9(1):457. [Epub ahead of print]. Abstract
      • Kaufman B, Laitman Y, Gronwald J, Winqvist R, Irmejs A, Lubinski J, Pylkäs K, Gardovskis J, Miklasevics E, Friedman E. Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations. Fam Cancer. 2009;8(4):473-8. Epub 2009 Jul 17. Abstract
      • Nikkilä J, Coleman KA, Morrissey D, Pylkäs K, Erkko H, Messick TE, Karppinen SM, Amelina A, Winqvist R, Greenberg RA. Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function. Oncogene. 2009 Apr 23;28(16):1843-52. Abstract
  • 2008
    • Paetau A, Honkala H, Salonen R, Ignatius J, Kestilä M, Herva R. Hydrolethalus Syndrome: Neuropathology of 21 Cases Confirmed by HYLS1 Gene Mutation Analysis. J Neuropathol Exp Neurol. 2008 Aug;67(8):750-62. Abstract
    • Georgitsi M, Heliövaara E, Paschke R, Kumar AV, Tischkowitz M, Vierimaa O, Salmela P, Sane T, De Menis E, Cannavò S, Gündogdu S, Lucassen A, Izatt L, Aylwin S, Bano G, Hodgson S, Koch CA, Karhu A, Aaltonen LA. Large Genomic Deletions of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene in Pituitary Adenoma Predisposition. J Clin Endocrinol Metab. 2008 Oct;93(10):4146-51. Abstract
    • Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V. Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. Abstract
    • Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res. 2008 Jun;18(6):847-58. Abstract
    • Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia. 2008 Jun;49(6):1038-45. Abstract
    • Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet . 2008 Feb; 40 ( 2 ): 155-7. Abstract
    • FROM CANCER GENETICS LABORATORY
      • Alhopuro P, Karhu A, Winqvist R, Waltering K, Visakorpi T, Aaltonen LA. Somatic mutation analysis of MYH11 in breast and prostate cancer. BMC Cancer. 2008 Sep 17;8:263. Abstract
      • Pylkäs K, Erkko H, Nikkilä J, Sólyom S, Winqvist R. Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families. BMC Cancer. 2008 May 26;8:146. Abstract
      • Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, Pylkäs K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja V, Kosma VM, Xia B, Livingston DM, Winqvist R, Hopper JL. Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res. 2008 Jul 15;14(14):4667-71. Abstract
      • Erkko H, Pylkäs K, Karppinen SM, Winqvist R. Germline alterations in the CLSPN gene in breast cancer families. Cancer Lett. 2008 Mar 8;261(1):93-7. Abstract
  • 2007
    • Uusimaa J, Moilanen Jukka S., Vainionpää L, Tapanainen P, Lindholm P, Nuutinen M, Löppönen Tuija, Mäki-Torkko E, Rantala H, Majamaa K. Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. Ann Neurol. 2007 Sep;62(3):278-87. Abstract
    • Peippo M, Koivisto AM, Särkämö T, Sipponen M, von Koskull H, Ylisaukko-Oja T, Rehnström K, Froyen G, Ignatius J, Järvelä I. PAK3 related mental disability: Further characterization of the phenotype. Am J Med Genet A. 2007 Oct 15;143(20):2406-16. Abstract
    • Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen Jukka, Hammans S, Kuhlenbäumer G. Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). Neuromuscul Disord. 2007 Aug;17(8):624-30. Abstract
    • Pylkäs Katri, Tommiska J, Syrjäkoski K, Kere J, Gatei M, Waddell N, Allinen Minna, Karppinen Sanna-Maria, Rapakko Katrin, Kääriäinen H, Aittomäki K, Blomqvist C, Mustonen Aki, Holli K, Khanna KK, Kallioniemi OP, Nevanlinna H, Winqvist Robert. Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. Carcinogenesis. 2007 May;28(5):1040-5. Abstract
    • Vierimaa O, Ebeling TM, Kytölä S, Bloigu R, Eloranta E, Salmi J, Korpi-Hyövälti E, Niskanen L, Orvola A, Elovaara E, Gynther A, Sane T, Välimäki M, Ignatius J, Leisti J, Salmela PI. Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation. Eur J Endocrinol. 2007 Sep;157(3):285-94. Abstract

    • OULU UNIVERSITY, FACULTY OF MEDICINE, BEST PUBLICATION 2007

      Erkko Hannele, Xia Bing, Nikkilä Jenni, Schleutker Johanna, Syrjäkoski Kirsi, Mannermaa Arto, Kallioniemi Anne, Pylkäs Katri, Karppinen Sanna-Maria, Rapakko Katrin, Miron Alexander, Sheng Qing, Li Guilan, Mattila Henna, Bell Daphne W., Haber Daniel A., Grip Mervi, Reiman Mervi, Jukkola-Vuorinen Arja, Mustonen Aki, Kere Juha, Aaltonen Lauri A., Kosma Veli-Matti, Kataja Vesa, Soini Ylermi, Drapkin Ronny I., Livingston David M. & Robert Winqvist. A recurrent mutation in PALB2 in Finnish cancer families. Nature 2007 Mar 15;446(7133):316-319. Abstract

    • Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Mäkinen MJ., Vierimaa Outi, Paschke R, Saeger W, van der Luijt RB., Sane T, Robledo M, De Menis E, Weil RJ., Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P & Aaltonen LA.. Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. PNAS 2007;104;4101-4105. Abstract
    • Geogitsi M, Karhu A, Winqvist Robert, Visakorpi T, Waltering K, Vahteristo P, Launonen V & Aaltonen LA. Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers. Br J Cancer 2007 29;96(2):352-6. Abstract
    • Rapakko Katrin, Heikkinen Katri, Karppinen Sanna-Maria, Erkko Hannele & Winqvist Robert. Germline alterations in the 53BP1 gene in breast and ovarian cancer families. Cancer Letters 245 (2007) 337-340. Abstract
    • Valinen Y, Rapakko Katrin, Kokkonen Hannaleena, Laitinen P, Tekay A, Ahola T & Ryynänen M. Clinical first-trimester routine screening for Down syndrome in singleton pregnancies in northern Finland. Am J Obstet Gynecol 2007;196;278.e1-278.e5. Abstract
    • Georgitsi M, Raitila A, Karhu A, van der Lujt RB, Aalfs CM, Sane T, Vierimaa Outi, Mäkinen MJ, Tuppurainen K, Paschke R, Gimm O, Koch CA, Gündogdu S, Lucassen A, Tischkowitz M, Izatt L, Aylwin S, Bano G, Hodgson S, De Menis E, Lauonen V, Vahteristo P, Aaltonen LA. Germline CDKN1B/p27Kip1 mutation in multiple endorine neoplasia. J Clin Endocrinol Metab 2007;92:3321-3325. Abstract
  • 2006
    • Peippo MM, Simola KO, Valanne LK, Larsen AT, Kahkonen M, Auranen MP, Ignatius Jaakko. Pitt-Hopkins syndrome in two patients and further definition of the phenotype. Clinical Dysmorphology 2006;15:47-54. Abstract
    • Rapakko Katrin, Heikkinen Katri, Karppinen Sanna-Maria, Winqvist Robert. Screening for RAD51 and BRCA2 BRC repeat mutations in breast and ovarian cancer families. Cancer Letters 2006;236:142-147. Abstract

    • OULU UNIVERSITY, FACULTY OF MEDICINE, BEST PUBLICATION 2006

      Vierimaa Outi, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006;312:1228-1230. Abstract

    • Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa Outi, Aittomäki k, Pukkala E, Lauonen V, Aaltonen LA. Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet 2006;43:523-526. Abstract
    • Annunen-Rasila J, Finnilä S, Mykkänen K, Moilanen Jukka S., Veijola J, Pöyhönen M, Viitanen M, Kalimo H, Majamaa K. Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. Neurogenetics 2006;7:185-194. Abstract
    • Heikkinen Katri, Rapakko Katrin, Karppinen Sanna-Maria, Erkko Hannele, Knuutila S, Lundan Tuija, Mannermaa Arto, Börresen-Dale A-L, Borg Å, Barkardottir RB, Petrini J, Winqvist Robert. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 2006;27(8):1593-1599. Abstract
    • Olivier M, Langerod A, Carrieri P, Bergh J, Klaar S, Eyfjord J, Theillet C, Rodriguez C, Lidereau R, Bieche I, Varley J, Bignon Y, Uhrhammer N, Winqvist Robert, Jukkola-Vuorinen A, Niederacher D, Kato S, Ishioka C, Hainaut P, Borresen-Dale AL. The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer. Clin Cancer Res 2006;12(4):1157-1167. Abstract
    • Karppinen Sanna-Maria, Erkko Hannele, Reini K, Pospiech H, Heikkinen Katri, Rapakko Katrin, Syväoja JE, Winqvist Robert. Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer. European Journal of Cancer 2006;42:2647-2652. Abstract
    • Karihtala Peter, Winqvist Robert, Syväoja JE, Kinnula VL, Soini Y. Increasing oxidative damage and loss of mismatch repair enzymes during breast carcinogenesis. European Journal of Cancer 2006;42:2653-2659. Abstract
    • Pakkasjärvi N, Ritvanen A, Herva R, Peltonen L, Kestilä M, Ignatius Jaakko. Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland – An epidemiologial study. Am J Med Gen A 2006;140A:1834-1839. Abstract
    • Karppinen Sanna-Maria, Barkardottir RB, Backenhorn K, Sydenham T, Syrjakoski K, Schleutker J, Ikonen T, Pylkas K, Rapakko Katrin, Erkko Hannele, Johannesdottir G, Gerdes AM, Thomassen M, Agnarsson BA, Grip M, Kallioniemi A, Kere J, Aaltonen LA, Arason A, Moller P, Kruse TA, Borg A, Winqvist Robert. Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies. J Med Genet 2006;43:856-862. Abstract
    • Õiglane-Shlik E, Talvik T, Zordania R, Poder H, Kahre T, Raukas E, Ilus T, Tasa G, Bartsch O, Väisänen Marja-Leena, Ounap K. Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: Sister syndromes not equally represented. Am J Med Genet A 2006;140A:1936-1943. Abstract
  • 2005
    • Heikkinen Katri, Rapakko Katrin, Karppinen Sanna-Maria, Erkko Hannele, Nieminen P & Winqvist Robert. Association of common ATM polymorphism with bilateral breast cancer. Int J Cancer 2005;116:69-72. Abstract
    • Van Esch H, Bauters M, Ignatius Jaakko, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005;77(3):442-53. Abstract
    • Lundan Tuija, Volin L, Ruutu T, Knuutila S, Porkka K. Allogenic stem cell transplantation reverses the poor prognosis of CML patients with deletions in derivative chromosome 9. Leukemia 2005;19:138-140. Abstract
    • Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen Tuija, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. GJB2 Mutations and degree of hearing loss: A multicenter study. Am J Hum Genet 2005;77:945-957. Abstract
    • Bergmann C, Senderek J, Windelen E, Kupper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schoneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Buttner R, Zerres K; members of the APN (Mustonen Aki, Vierimaa Outi etc.). Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney International 2005;67:829-848. Abstract
    • Zankl A, Neumann L, Ignatius Jaakko, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A. Dominant negative mutations in the C-Propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet 2005;133A:61-67. Abstract
    • Ylisaukko-oja T, Rehnström K, Vanhala R, Kempas E, von Koskull H, Tengström C, Mustonen Aki, Öunap K, Lähdetie J, Järvelä I. MECP2 mutation analysis in patients with mental retardation. Am J Med Genet 2005;132A:121-124. Abstract
    • Posterao P, Pascucci M, Colombi M, Barlati S, Giannetti A, Paradisi M, Mustonen Aki, Zambruno G, Castiglia D. Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa. Biochem Biophys Res Commun 2005;338(3):1391-401. Abstract
    • Heikkinen Katri, Mansikka Virpi, Karppinen Sanna-Maria, Rapakko Katrin, Winqvist Robert. Mutation analyses of the ATR gene in breast and ovarian cancer families. Breast Cancer Research 2005;7:R495-R501. Abstract
  • 2004
    • Huusko P, Juo S-HH, Gillanders E, Vahteristo P, Kainu T, Sarantaus L, Allinen M, Jones MP, Rapakko Katrin,  Eerola H, Markey C, Vehmanen P, Gildea D, Freas-Lutz D, Blomqvist C, Leisti Jaakko, Blanco G, Puistola U, Trent J, Bailey-Wilson J, Winqvist Robert, Nevanlinna H and Kallioniemi O-P. Genome-wide scanning for linkage in Finnish breast cancer families. Eur J Hum Genet. 2004 Feb;12(2):98-104. Abstract
    • Peippo M, Tengström C, Arvio M, Valanne L, Oksanen V, Kaakkola S, Ignatius Jaakko: De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features. Genetic Counseling 2004;15(3):341-346. Abstract
    • Tuhkanen H, Anttila M, Kosma V-M, Puolakka J, Juhola M, Heinonen S, Mannermaa Arto: Marked allelic imbalance on chromosome 5q31 does not explain a-catenin expression in epithelial ovarian cancer. Gynecologic Oncology 2004;94:416-421.
    • Ebeling T, Vierimaa Outi, Kytölä Soili, Leisti Jaakko, Salmela PI: Effect of multiple endocrine neoplasia type I (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations. J Clin Endocrinol Metab 2004;89:3392-3396. Abstract
    • Lakhani SR, Manek S, Penault-Llorca F, Flanagan A, Arnout L, Merrett S, McGuffog L, Steele D, Devilee P, Klijn J.G.M., Merres-Heijboer H, Radice P, Pilotti S, Nevanlinna H, Butzow R, Sobol H, Jacquemier J, Lyonet D, L. Neuhausen S, Weber B, Wagner T, Winqvist Robert, Bignon Y-J, Monti F, Schmitt F, Lenoir G, Seitz S, Hamman U, Pharoah P, Lane G, Ponder B, Bishop D. T, Easton D F. Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 2004;10:2473-2481. Abstract
    • Paetau R, Saraneva J, Salonen O, Valanne L, Ignatius Jaakko, Salenius S: Electromagnetic function of polymicrogyric cortex in congenital bilateral perisylvian syndrome. J Neurol Neurosrug Psychiatry 2004;75:717-722. Abstract
    • Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Löppönen Tuija, Munier F, Santos L, Shavel S, Zafeiriou D, Dufier J-L, Munnich A, Rozet J-M, Kaplan J. Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Human Mutation 2004;23:306-317.
    • Peltoketo H, Allinen Minna, Vuosku Jaana, Kujala Sonja, Lundan Tuija, Salminen A, Winqvist Robert, Vainio S. Characterization and expression of the human WNT4; lack of associated germline mutations in high – to moderate – risk and ovarian cancer. Cancer Letters 2004;213;83-90. Abstract
    • Rapakko Katrin, Kokkonen Hannaleena, Leisti Jaakko. UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. Am J Med Genet 2004;126A:248-252. Abstract
    • Hartikka H, Kuurila K, Körkkö Jarmo, Kaitilia I, Grénman R, Pynnönen S, Hyland JC, Ala-Kokko L. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum Mut 2004;24:147-154. Abstract
    • Lundan Tuija, Volin L, Elonen E, Autio K, Knuuttila S. Clinical and practical value of metaphase fluorescence in situ hybridization in follow-up after allogeneic stem cell transplantation in chronic myeloid leukaemia. Haematologica 2004;89(2):247-249. Abstract
    • Pirttiniemi P, Poikela A, Huggare J, Löppönen Tuija. Dental maturation in children with shunt-treated hydrocephalus. Cleft Palate-Craniofacial Journal 2004;41(6):651-654. Abstract
    • Löppönen Tuija, Körkkö Jarmo, Lundan Tuija, Seppänen U, Ignatius Jaakko, Kääriäinen H. Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1). Arthritis Care & Research 2004;51(6):925-932. Abstract
    • Karppinen Sanna-Maria, Heikkinen Katri, Rapakko Katrin, Winqvist Robert. Mutation screening of the BARD1 gene: Indication for involvement of the Cyss557Ser allele in hereditary susceptibility to breast cancer. J Med Genet 2004;41(9):e114. Abstract
    • Remes AM, Filppula SA, Rantala H, Leisti Jaakko, Ruokonen A, Sharma S, Juffer AH, Hiltunen K. A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. J Mol Med 2004;82:550-554. Abstract
  • 2003
    • Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Körkkö Jarmo, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Juppner H. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 2003;112(8):1255-1263. Abstract
    • Heikkinen Katri, Karppinen Sanna-Maria, Soini Y, Mäkinen M and Winqvist Robert. Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. J Med Genet 2003; 40:e131 (http://www.jmedgenet.com/cgi/content/full/ 40/12/e131). Abstract
    • Löppönen Tuija, Väisänen Marja-Leena, Luotonen M, Allinen Minna, Uusimaa J, Lindholm P, Mäki-Torkko E, Väyrynen M, Löppönen H, Leisti Jaakko. Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland. The Laryngoscope 2003;113:1758-1763. Abstract
    • Karppinen Sanna-Maria, Vuosku Jaana, Heikkinen Katri, Allinen Minna, Winqvist Robert. No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. Eur J Cancer 2003;39:366-371. Abstract
    • Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen Marja-Leena, von Koskull H, Sherman SL. Expansion of the Fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003;72:454-464. Abstract
  • 2002
    • Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa Outi, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nature Genetics 2002;30(4):406-410. Abstract
    • Allinen Minna, Peri Liisa, Kujala Sonja, Lahti-Domenici Jaana, Outila Kati, Karppinen Sanna-Maria, Launonen V and Winqvist Robert. Analysis of 11q21-q24 loss of heterozygosity candidate target genes in breast cancer: indications of TSLC1 promoter hypermethylation. Genes Chromosomes & Cancer 34: 384-389, 2002. Abstract
    • Allinen M, Launonen V, Laake K, Jansen L, Huusko P, Kääriäinen H, Børresen-Dale A-L and Winqvist Robert. ATM mutations in Finnish breast cancer patients. J Med Genet 39: 192-196, 2002. Abstract
    • Hanein S, Perrault I, Olsen P, Löppönen Tuija, Hietala M, Gerber S, Jeanpierre M, Barbet F, Durcroq D, Hakiki S, Munnich A, Rozet J-M, Kaplan J. Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in leber congenital amaurosis pedigrees of Finnish origin. Human Mutation in Brief 538, 2002; Online 1-6.
    • Nieminen P, Löppönen Tuija, Tolonen U, Lanning P, Knip M, Löppönen H. Growth and biochemical markers of growth in children with snoring and obstructive sleep apnea. Pediatrics 2002;109(4): 1-6. Abstract
    • Villablanca A, Wassif WS, Smith T, Hoog A, Vierimaa Outi, Kassem M, Dwight T, Forsberg L, Du Q, Learoyd D, Jones K, Stranks S, Juhlin C, Teh BT, Carling T, Robinson B, Larsson C.. Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. Eur J Endocrinol 2002;147:313-322. Abstract
    • Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro J, Russo C, Uyama E, Vierimaa Outi, Spritz RA. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Genet 2002;108:16-22. Abstract
  • 2001
    • Launonen V, Vierimaa Outi, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R & Aaltonen LA: Inherited susceptibility to uterine leiomyomas and renal cell cancer. PNAS 2001;98(6):3387-3392. Abstract
    • Holopainen I.E., Kokkonen Hannaleena, Korpi E.R. Angelmanin oireyhtymä - kehitysvammaisuuden ilmiasusta geeneihin. Duodecim 2001;117:383-7. Abstract
    • Kytölä S, Villablanca A, Ebeling T, Nord B, Larsson C, Höög A, Wong FK, Välimäki M, Vierimaa Outi, Teh BT, Salmela PI & Leisti Jaakko. Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland. Journal of Medical Genetics 2001;38:185-189. Abstract
    • Vilkki S, Tsao J-L, Loukola A, Pöyhönen M, Vierimaa Outi, Herva R, Aaltonen LA & Shibata D: Extensive somatic microsatellite mutations in normal human tissue. Cancer Research 2001;61:4541-4544. Abstract
    • Holopainen IE, Metsähonkala E-L, Kokkonen Hannaleena, Parkkola RK, Manner TE, Någren K & Korpi ER: Decreased binding of [11C] Flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions. Annals of Neurology 2001;49:110-113. Abstract
    • Kiuru M, Launonen V, Hietala M, Aittomäki K, Vierimaa Outi, Salovaara R, Arola J, Pukkala E, Sistonen P, Herva R & Aaltonen LA. Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. American Journal of Pathology 2001;159(3):825-829. Abstract
    • Rapakko Katrin, Allinen Minna, Syrjäkoski K, Vahteristo P, Huusko Pia, Vähäkangas K, Eerola H, Kainu T, Kallioniemi O-P, Nevanlinna H and Winqvist Robert. Germline TP53 mutations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites. Br J Cancer 2001;84:116-119. Abstract
    • Allinen Minna, Huusko Pia, Mäntyniemi S, Launonen V and Winqvist Robert. Mutation analysis of the CHK2 gene in breast cancer/Li-Fraumeni-like families. Br J Cancer 2001;85:209-212. Abstract
    • Lahti-Domenici Jaana, Rapakko Katrin, Pääkkönen Kati, Nevanlinna H, Kujala Marika, Allinen Minna and Winqvist Robert. Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families. Cancer Genet Cytogenet 2001;129:120-123. Abstract
    • Barkadottir RB, Sarantaus L, Arason A, Vehmanen P, Bendahl P-O, Kainu T, Syrjäkoski K, Krahe R, Huusko Pia, Pyrhönen S, Holli K, Kallioniemi O-P, Egilsson V, Kere J and Nevanlinna H. Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. Eur J Hum Genet 2001;9:773-779. Abstract
  • 2000
    • Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti Jaakko, Rasmussen S. Identification of the familial cylindromatosis tumour-suppressor gene. Nature Genetics 2000;25: 160-165. Abstract
    • Kung C, Pingel JT, Heikinheimo M, Klemola T, Varkila K, Yoo LI, Vuopala K, Pöyhönen Minna, Uhari M, Rogers M, Speck SH, Chatila T, Thomas ML: Mutations in the tyrosine phosphatase CD45 gene in child with severe combined immunodeficiency disease. Nature Medicine 2000;6(3): 343-5. Abstract
  • 1999
    • Laake K, Launonen Virpi, Beckmann MV, Gudlaugsdottir S, Seitz S, Rio P, Chapeme M-H, Bieche I, Birnbaum D, White G, Sztan M, Sever N, Plummer S, Osorio A, Broeks A, Huusko Pia, Spurr N, Borg Å, Devilee P, van’t Veer L, Benitez J, Casey G, Peterlin B, Olah E, Varley J, Lidereau R, Bignon Y-J, Scherneck S, Sigurdardottir V, Eyfjord J, Niederacher D, Winqvist Robert, Skovlund E, Børresen-Dale A-L and the Breast Cancer Somatic Genetics Consortium. Loss of heterozygosity at 11q23.1 and survival in breast cancer: results of a large European study. Genes Chromosomes & Cancer 25: 212-221, 1999. Abstract
  • Julkaisut 1998-
  • Julkaisut 1991-1997