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  3. Dominguez-Valentin, Mev [Author]; Plazzer, John-Paul [Author]; Sampson, Julian R. [Author]; Engel, Christoph [Author]; Aretz, Stefan [Author]; Jenkins, Mark A. [Author]; Sunde, Lone [Author]; Bernstein, Inge [Author]; Capella, Gabriel [Author]; Balaguer, Francesc [Author]; Macrae, Finlay [Author]; Winship, Ingrid M. [Author]; Thomas, Huw [Author]; Evans, Dafydd Gareth [Author]; Burn, John [Author]; Greenblatt, Marc [Author]; de Vos tot Nederveen Cappel, Wouter H. [Author]; Sijmons, Rolf H. [Author]; Nielsen, Maartje [Author]; Bertario, Lucio [Author]; Bonanni, Bernardo [Author]; Tibiletti, Maria Grazia [Author]; Cavestro, Giulia Martina [Author]; Lindblom, Annika [Author]; [...]

    No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

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    Basel: MDPI, [2023]

    Published in: Journal of Clinical Medicine ; 10,13, (2021)

  7. Peltomäki, Kirsi

    Questionable Autonomy

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    University of California Press, 2005

    Published in: Afterimage, 33 (2005) 3, Seite 57-59

  8. Peltomäki, Kirsi

    Still Kicking

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    University of California Press, 2006

    Published in: Afterimage, 33 (2006) 6, Seite 8-9

  9. Peltomäki, Kirsi

    Scenes from a Museum

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    University of California Press, 1999

    Published in: Afterimage, 27 (1999) 1, Seite 11-11

  12. Aktan-Collan, Katja; Kääriäinen, Helena; Järvinen, Heikki; Peltomäki, Päivi; Pylvänäinen, Kirsi; Mecklin, Jukka-Pekka; Haukkala, Ari

    Psychosocial consequences of predictive genetic testing for lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study

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    Springer Science and Business Media LLC, 2013

    Published in: Familial Cancer, 12 (2013) 4, Seite 639-646

  16. Pussila, Marjaana; Laiho, Aleksi; Törönen, Petri; Björkbacka, Pauliina; Nykänen, Sonja; Pylvänäinen, Kirsi; Holm, Liisa; Mecklin, Jukka-Pekka; Renkonen-Sinisalo, Laura; Lehtonen, Taru; Lepistö, Anna; Linden, Jere; Mäki-Nevala, Satu; Peltomäki, Päivi; Nyström, Minna

    Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis

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    Elsevier BV, 2024

    Published in: eBioMedicine, 103 (2024), Seite 105111

  17. Kansikas, Minttu; Vähätalo, Laura; Kantelinen, Jukka; Kasela, Mariann; Putula, Jaana; Døhlen, Anni; Paloviita, Pauliina; Kärkkäinen, Emmi; Lahti, Niklas; Arnez, Philippe; Kilpinen, Sami; Alcala-Repo, Beatriz; Pylvänäinen, Kirsi; Pöyhönen, Minna; Peltomäki, Päivi; Järvinen, Heikki J.; Seppälä, Toni T.; Renkonen-Sinisalo, Laura; Lepistö, Anna; Mecklin, Jukka-Pekka; Nyström, Minna

    Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity

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    American Association for Cancer Research (AACR), 2023

    Published in: Cancer Research Communications, 3 (2023) 3, Seite 361-370

  18. Engel, Christoph; Ahadova, Aysel; Seppälä, Toni T.; Aretz, Stefan; Bigirwamungu-Bargeman, Marloes; Bläker, Hendrik; Bucksch, Karolin; Büttner, Reinhard; de Vos tot Nederveen Cappel, Wouter T.; Endris, Volker; Holinski-Feder, Elke; Holzapfel, Stefanie; Hüneburg, Robert; Jacobs, Maarten A.J.M.; Koornstra, Jan J.; Langers, Alexandra M.; Lepistö, Anna; Morak, Monika; Möslein, Gabriela; Peltomäki, Päivi; Pylvänäinen, Kirsi; Rahner, Nils; Renkonen-Sinisalo, Laura; Schulmann, Karsten; [...]

    Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

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    Elsevier BV, 2020

    Published in: Gastroenterology, 158 (2020) 5, Seite 1326-1333

  19. Dominguez-Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Macrae, Finlay; Winship, Ingrid M.; Thomas, Huw; Evans, Dafydd Gareth; Burn, John; Greenblatt, Marc; de Vos tot Nederveen Cappel, Wouter H.; Sijmons, Rolf H.; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; [...]

    No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

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    MDPI AG, 2021

    Published in: Journal of Clinical Medicine, 10 (2021) 13, Seite 2856

  20. Dominguez-Valentin, Mev; Haupt, Saskia; Seppälä, Toni T.; Sampson, Julian R.; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A.; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; [...]

    Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

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    Elsevier BV, 2023

    Published in: eClinicalMedicine, 58 (2023), Seite 101909