If you made any changes in Pure these will be visible here soon.
Filter
Journal article

Search results

  • 2022

    Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

    Jensen, J. M., Skakkebæk, A., Gaustadness, M., Sommerlund, M., Gjørup, H., Ljungmann, K., Lautrup, C. K. & Sunde, L., Jul 2022, In: Familial Cancer. 21, 3, p. 325-332 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    3 Citations (Scopus)
  • von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

    Louise M Binderup, M., Smerdel, M., Borgwadt, L., Beck Nielsen, S. S., Madsen, M. G., Møller, H. U., Kiilgaard, J. F., Friis-Hansen, L., Harbud, V., Cortnum, S., Owen, H., Gimsing, S., Friis Juhl, H. A., Munthe, S., Geilswijk, M., Rasmussen, Å. K., Møldrup, U., Graumann, O., Donskov, F., Grønbæk, H., & 11 othersStausbøl-Grøn, B., Schaffalitzky de Muckadell, O., Knigge, U., Dam, G., Wadt, K. AW., Bøgeskov, L., Bagi, P., Lund, L., Stochholm, K., Ousager, L. B. & Sunde, L., Aug 2022, In: European Journal of Medical Genetics. 65, 8, 104538.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
    2 Citations (Scopus)
    2 Downloads (Pure)
  • 2021

    Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants

    Nielsen, M. L., Lildballe, D. L., Rasmussen, M., Bojesen, A., Birn, H. & Sunde, L., Apr 2021, In: European Journal of Medical Genetics. 64, 4, 5 p., 104183.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
    34 Downloads (Pure)
  • Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood

    Sunde, L., Singh, R., Ravn, K., Schelde, P., Hansen, E. S., Uldbjerg, N., Niemann, I. & Hatt, L., Jan 2021, In: Molecular Genetics & Genomic Medicine. 9, 1, 7 p., e1565.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
    12 Downloads (Pure)
  • No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

    Dominguez-Valentin, M., Plazzer, J-P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., de Vos Tot Nederveen Cappel, W. H., Sijmons, R. H., Nielsen, M., Bertario, L., & 69 othersBonanni, B., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Valle, A. D., Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H. F. A., Perne, C., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, E. J., Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sánchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Piñero, T. A., Pavicic, W. H., Kalfayan, P., Broeke, S. W. T., Mecklin, J-P., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Peltomäki, P., Hopper, J. L., Win, A. K., Buchanan, D. D., Lindor, N. M., Gallinger, S., Marchand, L. L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Hansen, T. V. O., Lindberg, L., Rødland, E. A., Neffa, F., Esperon, P., Tjandra, D., Möslein, G., Seppälä, T. T. & Møller, P., 28 Jun 2021, In: Journal of Clinical Medicine . 10, 13, 12 p., 2856.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
    3 Citations (Scopus)
    43 Downloads (Pure)
  • Nye arvelige polyposesyndromer som differentialdiagnose hos patienten med tarmpolypper

    Jelsig, A. M., Jespersen, N., Karstensen, J. G., Ketabi, Z., Rønlund, K., Sunde, L. E. M., Thorlacius-Ussing, O., Wadt, K. A. W., Qvist, N. & Lautrup, C. K., Sep 2021, In: Ugeskrift for Laeger. 183, 8 p., V02210148.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

    Dominguez-Valentin, M., Crosbie, E. J., Engel, C., Aretz, S., Macrae, F., Winship, I., Capella, G., Thomas, H., Nakken, S., Hovig, E., Nielsen, M., Sijmons, R. H., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Mints, M., Gluck, N., Katz, L., Heinimann, K., & 68 othersVaccaro, C. A., Green, K., Lalloo, F., Hill, J., Schmiegel, W., Vangala, D., Perne, C., Strauß, H. G., Tecklenburg, J., Holinski-Feder, E., Steinke-Lange, V., Mecklin, J. P., Plazzer, J. P., Pineda, M., Navarro, M., Vidal, J. B., Kariv, R., Rosner, G., Piñero, T. A., Gonzalez, M. L., Kalfayan, P., Ryan, N., ten Broeke, S. W., Jenkins, M. A., Sunde, L., Bernstein, I., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Della Valle, A., Lopez-Koestner, F., Alvarez, K., Büttner, R., Görgens, H., Morak, M., Holzapfel, S., Hüneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Weitz, J., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Auranen, A., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Okkels, H., Ketabi, Z., Denton, O. G., Rødland, E. A., Vasen, H., Neffa, F., Esperon, P., Tjandra, D., Möslein, G., Sampson, J. R., Evans, D. G., Seppälä, T. T. & Møller, P., Apr 2021, In: Genetics in Medicine. 23, 4, p. 705–712 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
    10 Citations (Scopus)
    8 Downloads (Pure)
  • Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

    Seppälä, T. T., Dominguez-Valentin, M., Crosbie, E. J., Engel, C., Aretz, S., Macrae, F., Winship, I., Capella, G., Thomas, H., Hovig, E., Nielsen, M., Sijmons, R. H., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Mints, M., Gluck, N., Katz, L., Heinimann, K., & 66 othersVaccaro, C. A., Green, K., Lalloo, F., Hill, J., Schmiegel, W., Vangala, D., Perne, C., Strauß, H. G., Tecklenburg, J., Holinski-Feder, E., Steinke-Lange, V., Mecklin, J. P., Plazzer, J. P., Pineda, M., Navarro, M., Vida, J. B., Kariv, R., Rosner, G., Piñero, T. A., Pavicic, W., Kalfayan, P., ten Broeke, S. W., Jenkins, M. A., Sunde, L., Bernstein, I., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Della Valle, A., Lopez-Koestner, F., Alvarez, K., Büttner, R., Görgens, H., Morak, M., Holzapfel, S., Hüneburg, R., von Knebel Doeberitz, M., Loeffler, M., Redler, S., Weitz, J., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Hopper, J. L., Win, A. K., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Wadt, K. A. W., Mourits, M. J. E., Ketabi, Z., Denton, O. G., Rødland, E. A., Vasen, H., Neffa, F., Esperon, P., Tjandra, D., Möslein, G., Rokkones, E., Sampson, J. R., Evans, D. G. & Møller, P., May 2021, In: European Journal of Cancer. 148, p. 124-133 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
    5 Citations (Scopus)
    9 Downloads (Pure)
  • Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

    International Mismatch Repair Consortium, Sunde, L. E. M., Lautrup, C. K., Okkels, H. & Bernstein, I., Jul 2021, In: The Lancet. Oncology. 22, 7, p. 1014-1022 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    9 Citations (Scopus)
  • 2020

    A rare case of urothelial carcinoma with syncytiotrophoblastic cell differentiation

    Milling, R. V., Niemann, I. C. S., Nielsen Dominiak, H., Hansen, E. S., Sunde, L. & Jensen, J. B., 15 Jul 2020, In: Scandinavian Journal of Urology. 54, 4, p. 358-359 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Decreasing incidence of registered hydatidiform moles in Denmark 1999-2014

    Lund, H., Vyberg, M., Eriksen, H. H., Grove, A., Jensen, A. Ø. & Sunde, L., 12 Oct 2020, In: Scientific Reports. 10, 1, 10 p., 17041.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
    3 Citations (Scopus)
    23 Downloads (Pure)