Lone Sunde

  1. 2022
  2. Published

    Colorectal cancer incidences in Lynch syndrome : a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. / Møller, Pål; Seppälä, Toni; Dowty, James G. et al.

    In: Hereditary Cancer in Clinical Practice, Vol. 20, No. 1, 36, 12.2022.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  3. Published

    von Hippel-Lindau disease : Updated guideline for diagnosis and surveillance. / Louise M Binderup, Marie; Smerdel, Maja; Borgwadt, Line et al.

    In: European Journal of Medical Genetics, Vol. 65, No. 8, 104538, 08.2022.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  4. Published

    Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant : how do we detect families with rare cancer predisposition syndromes? / Jensen, Janni M; Skakkebæk, Anne; Gaustadness, Mette et al.

    In: Familial Cancer, Vol. 21, No. 3, 07.2022, p. 325-332.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  5. 2021
  6. Published

    Danish guidelines for management of non-APC-associated hereditary polyposis syndromes. / Jelsig, Anne Marie; Karstensen, John Gásdal; Jespersen, Niels et al.

    In: Hereditary Cancer in Clinical Practice, Vol. 19, No. 1, 41, 10.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  7. Published

    No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2 : A prospective lynch syndrome database study. / Dominguez-Valentin, Mev; Plazzer, John Paul; Sampson, Julian R. et al.

    In: Journal of Clinical Medicine, Vol. 10, No. 13, 2856, 07.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  8. Published

    Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report. / Seppälä, Toni T.; Dominguez-Valentin, Mev; Crosbie, Emma J. et al.

    In: European Journal of Cancer, Vol. 148, 05.2021, p. 124-133.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  9. Published

    Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants. / Nielsen, Marlene L.; Lildballe, Dorte L.; Rasmussen, Maria et al.

    In: European Journal of Medical Genetics, Vol. 64, No. 4, 104183, 04.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  10. Published

    Correction to : Letter to the Editor—Recent advances in Lynch syndrome (Familial Cancer, (2021), 20, 2, (117-118), 10.1007/s10689-020-00200-6). / Møller, Pål; Sampson, Julian; Dominguez-Valentin, Mev et al.

    In: Familial Cancer, Vol. 20, No. 2, 04.2021, p. 119.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  11. Published

    Recent advances in Lynch syndrome. / Moller, Pal; Sampson, Julian; Dominguez-Valentin, Mev et al.

    In: Familial Cancer, Vol. 20, No. 2, 04.2021, p. 117-118.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  12. Published

    Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report. / Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph et al.

    In: Genetics in Medicine, Vol. 23, No. 4, 04.2021, p. 705-712.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  13. Published

    Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood. / Sunde, Lone; Singh, Ripudaman; Ravn, Katarina et al.

    In: Molecular Genetics & Genomic Medicine, Vol. 9, No. 1, e1565, 01.2021.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  14. 2020
  15. Published

    Decreasing incidence of registered hydatidiform moles in Denmark 1999–2014. / Lund, Helle; Vyberg, Mogens; Eriksen, Helle Højmark et al.

    In: Scientific Reports, Vol. 10, No. 1, 17041, 12.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  16. Published

    P57 in Hydatidiform Moles : Evaluation of Antibodies and Expression in Various Cell Types. / Lund, Helle; Nielsen, Søren; Grove, Anni et al.

    In: Applied Immunohistochemistry and Molecular Morphology, Vol. 28, No. 9, 10.2020, p. 694-701.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  17. Published

    A rare case of urothelial carcinoma with syncytiotrophoblastic cell differentiation. / Milling, Rikke Vilsbøll; Niemann, Isa Charlotte Secher; Nielsen Dominiak, Henning et al.

    In: Scandinavian Journal of Urology, Vol. 54, No. 4, 08.2020, p. 358-359.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  18. Published

    Udredning, opfølgning og behandling af tuberøs sklerose-kompleks. / Reinhard, Mark; Sunde, Lone; Madsen, Mia Gebauer et al.

    In: Ugeskrift for Laeger, Vol. 181, No. 14, 06.07.2020, p. 2-7.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  19. Published

    Maternally contributed Nlrp9b expressed in human and mouse ovarian follicles contributes to early murine preimplantation development. / Amoushahi, Mahboobeh; Steffensen, Line Lawaetz; Galieva, Adelya et al.

    In: Journal of Assisted Reproduction and Genetics, Vol. 37, No. 6, 06.2020, p. 1355-1365.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  20. Published

    Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness. / Patel, Vivek L; Busch, Evan L; Friebel, Tara M et al.

    In: Cancer Research, Vol. 80, No. 3, 02.2020, p. 624-638.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  21. Published

    Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database. / Dominguez-Valentin, Mev; Sampson, Julian R; Seppälä, Toni T et al.

    In: Genetics in Medicine, Vol. 22, No. 1, 01.2020, p. 15-25.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  22. 2019
  23. Published

    An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome. / Suerink, Manon; Rodríguez-Girondo, Mar; van der Klift, Heleen M et al.

    In: Genetics in Medicine, Vol. 21, No. 12, 12.2019, p. 2706-2712.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  24. Published

    Udredning, opfølgning og behandling af tuberøs sklerose-kompleks. / Reinhard, Mark; Sunde, Lone; Madsen, Mia Gebauer et al.

    In: Ugeskrift for Læger, Vol. 181, No. 45, V05190293, 11.2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  25. Published

    Population frequencies of pathogenic alleles of BRCA1 and BRCA2 : analysis of 173 Danish breast cancer pedigrees using the BOADICEA model. / Terkelsen, Thorkild; Christensen, Lise-Lotte; Fenton, Deirdre Cronin et al.

    In: Familial Cancer, Vol. 18, No. 4, 10.10.2019, p. 381-388.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  26. Published

    Gentagne diploid biparental molae. / Butt, Sedrah Arif; Kelstrup, Louise; Lidang, Marianne et al.

    In: Ugeskrift for Læger, Vol. 181, V02190144, 08.2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  27. Published

    The pivotal roles of the NOD-like receptors with a PYD domain, NLRPs, in oocytes and early embryo development. / Amoushahi, Mahboobeh; Sunde, Lone; Lykke-Hartmann, Karin.

    In: Biology of Reproduction, Vol. 101, No. 2, 08.2019, p. 284-296.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  28. Published

    Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report. / Seppala, Toni T.; Ahadova, Aysel; Dominguez-Valentin, Mev et al.

    In: Hereditary Cancer in Clinical Practice, Vol. 17, 8, 28.02.2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  29. Published

    Survival by colon cancer stage and screening interval in Lynch syndrome : A prospective Lynch syndrome database report. / Dominguez-Valentin, Mev; Seppälä, Toni T.; Sampson, Julian R. et al.

    In: Hereditary Cancer in Clinical Practice, Vol. 17, No. 1, 28, 2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  30. 2018
  31. Published

    Prognosis for pregnancies with trisomy 16 confined to the placenta : a Danish cohort study. / Grau Madsen, Sandra; Uldbjerg, Niels; Sunde, Lone et al.

    In: Prenatal Diagnosis, Vol. 38, No. 13, 12.2018, p. 1103-1110.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  32. Published

    Hydatidiform mole : validity of the registration in the Danish National Patient Registry, the Danish Cancer Registry, and the Danish Pathology Registry 1999-2009. / Lund, Helle; Vyberg, Mogens; Eriksen, Helle Hojmark et al.

    In: Clinical epidemiology, Vol. 10, 18.09.2018, p. 1223-1231.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  33. Published

    Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age : a report from the Prospective Lynch Syndrome Database. / Møller, Pål; Seppälä, Toni T; Bernstein, Inge et al.

    In: Gut, Vol. 67, No. 7, 07.2018, p. 1306-1316.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  34. Published

    Choroid plexus hyperplasia and chromosome 9p gains. / Boxill, Martin; Becher, Naja; Sunde, Lone et al.

    In: American Journal of Medical Genetics, Part A, Vol. 176A, No. 6, 01.06.2018, p. 1416-1422.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  35. Published

    Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies. / Rasmussen, M; Sunde, L; Nielsen, M L et al.

    In: Clinical Genetics, Vol. 93, No. 4, 2018, p. 860–869.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  36. 2017
  37. Published

    Infants with prenatally diagnosed kidney anomalies have an increased risk of urinary tract infections. / Rasmussen, Maria; Sunde, Lone; Andersen, René F et al.

    In: Acta paediatrica (Oslo, Norway : 1992), Vol. 106, No. 11, 11.2017, p. 1875-1881.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  38. Published

    Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols : a Prospective Lynch Syndrome Database report. / Seppala, Toni; Pylvanainen, Kirsi; Evans, Dafydd Gareth et al.

    In: Hereditary Cancer in Clinical Practice, Vol. 15, 18, 10.10.2017.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  39. Published

    A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. / Brophy, Patrick D.; Rasmussen, Maria; Parida, Mrutyunjaya et al.

    In: Genetics, Vol. 207, No. 1, 09.2017, p. 215-228.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  40. Published

    Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. / Lecarpentier, Julie; Silvestri, Valentina; Kuchenbaecker, Karoline B. et al.

    In: Journal of Clinical Oncology, Vol. 35, No. 20, 10.07.2017, p. 2240-+.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  41. Published

    Dormancy and activation of human oocytes from primordial and primary follicles: molecular clues to oocyte regulation. / Ernst, Emil Hagen; Grøndahl, Marie Louise; Grund, Simon et al.

    In: Human Reproduction, Vol. 32, No. 8, 2017, p. 1684-1700.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  42. 2016
  43. Published

    17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. / Rasmussen, Maria; Vestergaard, Else Marie; Graakjaer, Jesper et al.

    In: American Journal of Medical Genetics. Part A, Vol. 170, No. 11, 11.2016, p. 2934-2942.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  44. Published

    Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report. / Kristiansen, Mona Kjaerboel; Niemann, Isa; Lindegaard, Jacob Christian et al.

    In: Medicine (Baltimore), Vol. 95, No. 37, 09.2016, p. e4721.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  45. Published

    Kidney anomalies diagnosed by prenatal ultrasound screening and associated non-urinary malformations: a nationwide prevalence study. / Rasmussen, Maria; Olsen, Morten Smaerup; Sunde, Lone et al.

    In: Prenatal Diagnosis, Vol. 36, No. 9, 09.2016, p. 847-53.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  46. Published

    Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. / Møller, Pål; Seppälä, Toni; Bernstein, Inge et al.

    In: Gut, 03.06.2016.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  47. Published

    Disease pattern in Danish patients with Peutz-Jeghers syndrome. / Jelsig, A M; Qvist, N; Sunde, L et al.

    In: International Journal of Colorectal Disease, Vol. 31, No. 5, 05.2016, p. 997-1004.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  48. Published

    Fetal Kidney Anomalies: Next Generation Sequencing. / Rasmussen, Maria; Sunde, Lone; Nielsen, Marlene Louise et al.

    2016. Abstract from European Society of Human Genetics Conference 2016, Barcelona, Spain.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  49. Published

    Multilocus Inherited Neoplasia Alleles Syndrome : A Case Series and Review. / Whitworth, James; Skytte, Anne-Bine; Sunde, Lone et al.

    In: JAMA oncology, Vol. 2, No. 3, 03.2016, p. 373-379.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  50. Published

    Positive predictive value and completeness of prenatally assigned International Classification of Disease-10 kidney anomaly diagnoses in the Danish National Patient Registry. / Rasmussen, Maria; Olsen, Morten Smærup; Sunde, Lone et al.

    In: Clinical epidemiology, Vol. 8, 18.01.2016, p. 9-14.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  51. Published

    A 30-year experience in using oral methotrexate as initial treatment for gestational trophoblastic neoplasia regardless of risk group. / Faaborg, Louise; Niemann, Isa; Ostenfeld, Eva Bjerre et al.

    In: Acta Oncologica, Vol. 55, No. 2, 2016, p. 234-239.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  52. Published

    BRCA-associated pancreatico-biliary neoplasms : Four cases illustrating the emerging clinical impact of genotyping. / Sharma, Maja Bendtsen; Carus, Andreas; Sunde, Lone et al.

    In: Acta Oncologica, 2016, p. 1-5.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  53. Published

    Fetal Kidney Anomalies: Next Generation Sequencing. / Rasmussen, Maria; Sunde, Lone; Nielsen, Marlene Louise et al.

    2016.

    Research output: Contribution to conferencePosterResearchpeer-review

  54. 2015
  55. Published

    Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance : first report from the prospective Lynch syndrome database. / Møller, Pål; Seppälä, Toni; Bernstein, Inge et al.

    In: Gut, 09.12.2015.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  56. Published

    Gestational trophoblastic diseases - clinical guidelines for diagnosis, treatment, follow-up, and counselling. / Niemann, Isa; Vejerslev, Lars O; Frøding, Ligita et al.

    In: Danish Medical Journal, Vol. 62, No. 11, C5082, 11.2015.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleCommunication

  57. Published

    Paternal Hemizygosity in 11p15 in Mole-like Conceptuses : Two Case Reports. / Sunde, Lone; Lund, Helle; J Sebire, Neil et al.

    In: Medicine (Baltimore), Vol. 94, No. 44, 11.2015, p. e1776.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  58. Published

    A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. / Wadt, K A W; Aoude, L G; Johansson, P et al.

    In: Clinical Genetics, Vol. 88, No. 3, 09.2015, p. 267-72.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  59. Published

    Familial colorectal cancer risk may be lower than previously thought : A Danish cohort study. / Lautrup, Charlotte K; Mikkelsen, Ellen M; Lash, Timothy L et al.

    In: Cancer epidemiology, Vol. 39, No. 5, 26.07.2015, p. 714-19.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  60. Published

    Imprinted Genes on Chromosome 6 Are Unlikely to Cause Hydatidiform Mole. A Report of Two Cases. / Scholz, Nanna Brink; Lund, Helle; Bolund, Lars et al.

    In: Journal of Reproductive Medicine, Vol. 60, No. 5-6, 02.07.2015, p. 261-4.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  61. Published

    Survival in familial colorectal cancer : a Danish cohort study. / Lautrup, Charlotte Kvist; Mikkelsen, Ellen M; Lash, Timothy L et al.

    In: Familial Cancer, Vol. 14, No. 4, 12.05.2015, p. 553-9.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  62. Published

    Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. / Rebbeck, Timothy R; Mitra, Nandita; Wan, Fei et al.

    In: JAMA: The Journal of the American Medical Association, Vol. 313, No. 13, 07.04.2015, p. 1347-61.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  63. Published

    Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. / Wadt, Karin A W; Aoude, Lauren G; Krogh, Lotte et al.

    In: PLOS ONE, Vol. 10, No. 3, 24.03.2015, p. e0122662.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  64. Published

    The parental origin correlates with the karyotype of human embryos developing from tripronuclear zygotes. / Joergensen, Mette Warming; Labouriau, Rodrigo; Hindkjaer, Johnny et al.

    In: Clinical and Experimental Reproductive Medicine, Vol. 42, No. 1, 03.2015, p. 14-21.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  65. Published

    Identification of six new susceptibility loci for invasive epithelial ovarian cancer. / EMBRACE; Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) (Lone Sunde, member of-); Skytte, Anne-Bine Semma (Member of author collaboration).

    In: Nature Genetics, Vol. 47, 12.01.2015, p. 164-171.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  66. Published

    Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers. / Blanco, Ignacio; Kuchenbaecker, Karoline; Cuadras, Daniel et al.

    In: PLOS ONE, Vol. 10, No. 4, 2015, p. e0120020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  67. Published

    Triploidy-Observations in 154 Diandric Cases. / Scholz, Nanna Brink; Bolund, Lars; Nyegaard, Mette et al.

    In: PLOS ONE, Vol. 10, No. 11, 2015, p. e0142545.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  68. 2014
  69. Published

    Hoved-/halspragangliomer. / Nielsen, Signe Bergliot; Sunde, Lone; Bundgaard, Troels.

    In: Ugeskrift for Laeger, Vol. 176, No. 52, 22.12.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  70. Published

    A novel FBN1 variant in a large Marfan family with high penetrance of aortic dissection or rupture. / Rasmussen, Maria; Pedersen, Steen Fjord; Sunde, Lone et al.

    In: Danish Medical Journal, Vol. 61, No. 11, A4949, 11.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  71. Published

    Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing. / Rasmussen, Maria; Sunde, Lone; Weigert, Karen Petra et al.

    In: American Journal of Medical Genetics. Part A, Vol. 164A, 05.2014, p. 1318–1321.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  72. Published

    DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers. / Osorio, Ana; Milne, Roger L; Kuchenbaecker, Karoline et al.

    In: PLoS genetics, Vol. 10, No. 4, 04.2014, p. e1004256.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  73. Published

    Triploid pregnancies, genetic and clinical features of 158 cases. / Joergensen, Mette W; Niemann, Isa; Rasmussen, Anders A et al.

    In: American Journal of Obstetrics and Gynecology, 18.03.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  74. Published

    Molekylærgenetisk screening for polycystisk nyresygdom kan være et vigtigt diagnostisk redskab. / Rasmussen, Maria; Ørskov, Bjarne; Skytte, Anne-Bine et al.

    In: Ugeskrift for Læger, Vol. 176, No. 5A, 27.01.2014, p. 2-3.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  75. Published

    Altered cleavage patterns in human tripronuclear embryos and their association to fertilization method : A time-lapse study. / Joergensen, Mette Warming; Agerholm, Inge; Hindkjaer, Johnny et al.

    In: Journal of Assisted Reproduction and Genetics, 24.01.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  76. 2013
  77. Published

    A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability. / Rasmussen, Maria; Ramsing, Mette; Petersen, Olav Bjørn et al.

    In: American Journal of Medical Genetics. Part A, Vol. 161A, No. 12, 12.2013, p. 3191-5.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  78. Published

    Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition. / Binderup, Marie Louise Mølgaard; Bisgaard, Søs Marie Luise; Harbud, Vibeke et al.

    In: Danish Medical Journal, Vol. 60, No. 12, 12.2013, p. B4763.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearch

  79. Published

    NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage. / Andreasen, L; Christiansen, O B; Niemann, I et al.

    In: Molecular Human Reproduction, Vol. 19, No. 11, 11.2013, p. 773-81.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  80. Published

    Methylation specific Multiplex Ligation-dependent Probe Amplification : utility for prenatal diagnosis of parental origin in human triploidy. / Joergensen, M W; Rasmussen, A A; Niemann, I et al.

    In: Prenatal Diagnosis, Vol. 33, No. 12, 24.07.2013, p. 1131-1136.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  81. Published

    Tetraploidy in hydatidiform moles. / Sundvall Germeys, Linda Karin M; Lund, Helle; Niemann, Isa et al.

    In: Human Reproduction, 30.04.2013.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  82. Published

    Prevalence of corneal dystrophies in the United States : estimates from claims data. / Møller, Hans Ulrik; Sunde, Lone.

    In: Investigative Ophthalmology & Visual Science, Vol. 54, No. 1, 01.2013.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  83. Published

    Existing data sources for clinical epidemiology : Danish registries for studies of medical genetic diseases. / Nguyen-Nielsen, Mary; Svensson, Elisabeth; Vogel, Ida et al.

    In: Clinical epidemiology, Vol. 5, 2013, p. 249-62.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  84. 2012
  85. Published

    A major imprinted gene involved in hydatidiform mole is not located in 2q31.2-qter or 5q34-qter. / Lund, Helle; Nyegaard, Mette; Svarrer, Tove et al.

    In: Gene, Vol. 497, No. 2, 2012, p. 280-4.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  86. Published

    Evaluering af læringsudbytte ved fokuserede ophold. / Bleken, Anne-Lene; Sunde, Lone; Olesen, Anne Braae et al.

    In: Ugeskrift for Laeger, Vol. 174, No. 7, 2012, p. 421-423.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  87. Published

    Familial risk of colorectal cancer - methods for tracing first degree relatives in Denmark. / Lautrup, Charlotte K.; Mikkelsen, Ellen Margrethe; Lash, Timothy et al.

    2012. Poster session presented at PhD Day 2012, Aarhus, Denmark.

    Research output: Contribution to conferencePosterResearch

  88. Published

    Hypodontia and ovarian cancer - the connection between dental agenesia and epithelial cancers, especially ovarian cancer. / Schmidt, Maria Cathrine; Blaakær, Jan; Søgaard, Charlotte et al.

    2012. Poster session presented at PhD Day 2012, Aarhus, Denmark.

    Research output: Contribution to conferencePosterResearchpeer-review

  89. Published

    Identification of 3 novel VHL germ-line mutations in Danish VHL patients. / Dandanell, Mette; Friis-Hansen, Lennart Jan; Sunde, Lone et al.

    In: B M C Medical Genetics, Vol. 13, No. 1, 2012, p. 54.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  90. Published

    MSH6 Mutations are Frequent in Hereditary Nonpolyposis Colorectal Cancer Families With Normal pMSH6 Expression as Detected by Immunohistochemistry. / Okkels, Henrik; Larsen, K.L.; Thorlacius-Ussing, O. et al.

    In: Applied Immunohistochemistry & Molecular Morphology, Vol. 20, No. 5, 2012, p. 470-7.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  91. Published

    Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221. / Andreasen, L; Bolund, L; Niemann, I et al.

    In: Molecular Human Reproduction, Vol. 18, No. 12, 2012, p. 593-8.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  92. 2011
  93. Published

    A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing. / Thomassen, Mads; Pedersen, Inge Søkilde; Vogel, Ida et al.

    In: Breast Cancer Research and Treatment, Vol. 128 , No. 1, 07.2011, p. 179-85.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  94. Published

    Mosaics and moles. / Sunde, Lone; Niemann, Isa; Hansen, Estrid Staehr et al.

    In: European Journal of Human Genetics, Vol. 19, No. 10, 08.06.2011, p. 1026-31.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  95. Published

    A genome-wide scan in affected sibling pairs with idiopathic recurrent miscarriage suggests genetic linkage. / Kolte, Astrid Marie; Nielsen, H S; Moltke, Ida et al.

    In: Molecular Human Reproduction, Vol. 17, No. 6, 2011, p. 379-85.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  96. Published

    A genome-wide scan in affected sibling pairs with idiopathic recurrent miscarriage suggests genetic linkage. / Kolte, Astrid Marie; Nielsen, H S; Moltke, Ida et al.

    In: Journal of Reproductive Immunology, Vol. 90, No. 2, 2011, p. 147.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearchpeer-review

  97. Published

    A major mole gene is unlikely in 2q31.2-qter and 5q34-qter. / Lund, H; Nyegaard, Mette; Svarrer, T. et al.

    2011. Abstract from XVIth World Congress on Gestational Trophoblastic Diseases, Budapest, Hungary.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  98. Published

    Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system. / Bernstein, Inge Thomsen; Larsen, K.L.; Timshel, Susanne et al.

    In: Human Mutation, Vol. 32, No. 5, 2011, p. 551-6.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  99. Published

    Breast cancer after bilateral risk-reducing mastectomy. / Skytte, Anne-Bine Semma; Crüger, Dorthe Gylling; Gerster, Mette et al.

    In: Clinical Genetics, Vol. 79, No. 5, 2011, p. 431-7.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  100. Published

    Do all diploid HMs originate in triploid conceptuses? / Sunde, Lone E. M.; Niemann, Isa; Schmidt, B et al.

    2011. Abstract from XVIth World Congress on Gestational Trophoblastic Diseases, Budapest, Hungary.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  101. Published

    International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. / Peixoto, Ana; Santos, Catarina; Pinheiro, Manuela et al.

    In: Breast Cancer Research and Treatment, Vol. 127, No. 3, 2011, p. 671-9.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  102. Published

    Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study. / Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen et al.

    In: Familial Cancer, Vol. 10, No. 4, 2011, p. 633-9.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  103. Published

    Risk in first degree relatives to patients with colorectal cancer. / Lautrup, Charlotte Kvist; Mikkelsen, Ellen; Lash, Timothy L et al.

    2011. Poster session presented at 4th Biennial Meeting, International Society for Gastrointestinal Hereditary Tumours, InSiGHT, San Antonio, Texas, United States.

    Research output: Contribution to conferencePosterResearchpeer-review

  104. Published

    The pathogenic function of mutations in NLRP7 in diploid hydatidiform moles with biparental genome. / Andreasen, Lotte; Bolund, Lars; Sunde, Lone E. M.

    2011. Poster session presented at PhD day 2011, Aarhus, Denmark.

    Research output: Contribution to conferencePosterResearch

  105. Published

    The pathogenic function of mutations in NLRP7 in diploid hydatidiform moles with biparental genome. / Andreasen, Lotte; Bolund, Lars; Sunde, Lone E. M.

    2011. Abstract from PhD day 2011, Aarhus, Denmark.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  106. 2010
  107. Published

    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. / Antoniou, Antonis C; Wang, Xianshu; Fredericksen, Zachary S et al.

    In: Nature Genetics, Vol. 42, No. 10, 01.10.2010, p. 885-92.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  108. Published

    Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction. / Antoniou, Antonis C; Beesley, Jonathan; McGuffog, Lesley et al.

    In: Cancer Research, Vol. 70, No. 23, 2010, p. 9742-9754.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  109. Published

    Electronic exchange of clinical data in hereditary diseases using Hereditary Non Polyposis Colon Cancer (HNPCC) as a model. / Bernstein, Inge Thomsen; Timshel, S; Brandt, C et al.

    2010. Abstract from 3rd HVP Meeting, Paris, France.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  110. Published

    Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. / Vos, Yvonne J; de Walle, Hermien E K; Bos, Krista K et al.

    In: Journal of Medical Genetics, Vol. 47, No. 3, 2010, p. 169-75.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  111. Published

    Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing. / Skytte, Anne-Bine Semma; Gerdes, A-M; Andersen, M K et al.

    In: Clinical Genetics, Vol. 77, 2010, p. 342-9.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  112. Published

    The etiology behind hydatidiform mole. / Andreasen, Lotte; Bolund, Lars; Sunde, Lone E. M.

    2010. Abstract from Forskningens Dag 2010 - Aalborg Sygehus, Aalborg.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  113. 2009
  114. Published

    Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients. / Christensen, Lise Lotte; Kariola, Reetta; Korhonen, Mari K et al.

    In: Familial Cancer, Vol. 8, No. 4, 01.01.2009, p. 489-500.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

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