Udholm, L. F.
, Gaml-Sørensen, A., Arendt, L. H., Brix, N., Lunddorf, L. L. H., Ernst, A., Knudsen, U. B., Hjortdal, V. E. & Ramlau-Hansen, C. H. (2022).
Timing of Pubertal Development in Boys and Girls With Congenital Heart Defects: A Nationwide Cohort Study.
Journal of the American Heart Association,
11(7), Article e023135.
https://doi.org/10.1161/JAHA.121.023135
Lou, S., Lanther, M. R., Hagenstjerne, N., Bjørn Petersen, O. & Vogel, I. (2020).
“This is the child we were given”: A qualitative study of Danish parents’ experiences of a prenatal Down syndrome diagnosis and their decision to continue the pregnancy.
Sexual and Reproductive Healthcare,
23, Article 100480.
https://doi.org/10.1016/j.srhc.2019.100480
Leite, J. A., Isaksen, T. J., Heuck, A., Scavone, C.
& Lykke-Hartmann, K. (2020).
The α2 Na+/K+-ATPase isoform mediates LPS-induced neuroinflammation.
Scientific Reports,
10(1), Article 14180.
https://doi.org/10.1038/s41598-020-71027-5
Johannsen, E. B., Skakkebæk, A., Kalucka, J. M., Fedder, J.
, Gravholt, C. H. & Just, J. (2023).
The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk.
Human reproduction (Oxford, England),
38(12), 2339–2349.
https://doi.org/10.1093/humrep/dead224
Skakkebæk, A., Moore, P. J., Pedersen, A. D., Bojesen, A., Kristensen, M. K., Fedder, J.
, Laurberg, P., Hertz, J. M., Østergaard, J. R., Wallentin, M. & Gravholt, C. H. (2017).
The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome.
Brain and Behavior,
7(3/ March 2017), Article e00645.
https://doi.org/10.1002/brb3.645
Frostberg, E., Petersen, A. H.
, Bojesen, A., Rahr, H. B., Lindebjerg, J. & Rønlund, K. (2021).
The prevalence of pathogenic or likely pathogenic germline variants in a nationwide cohort of young colorectal cancer patients using a panel of 18 genes associated with colorectal cancer.
Cancers,
13(20), Article 5094.
https://doi.org/10.3390/cancers13205094
Lakeman, I. M. M., van den Broek, A. J., Vos, J. A. M., Barnes, D. R., Adlard, J., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Balmaña, J., Barrowdale, D., Benitez, J., Borg, A., Caldés, T., Caligo, M. A., Chung, W. K., Claes, K. B. M., Barouk-Simonet, E., Belotti, M. ... KConFab Investigators (2021).
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genetics in Medicine,
23(9), 1726-1737.
https://doi.org/10.1038/s41436-021-01198-7
Ravn, K., Singh, R., Hatt, L., Kølvraa, M., Schelde, P.
, Vogel, I., Uldbjerg, N. & Hindkaer, J. (2020).
The Number of Circulating Fetal Extravillous Trophoblasts Varies from Gestational Week 6 to 20.
Reproductive Sciences,
27(12), 2170-2174.
https://doi.org/10.1007/s43032-020-00243-1
Tallaksen, H. B. L., Johannsen, E. B., Just, J., Viuff, M. H., Gravholt, C. H. & Skakkebæk, A. (2023).
The multi-omic landscape of sex chromosome abnormalities: current status and future directions.
Endocrine Connections,
12(9), Article e230011.
https://doi.org/10.1530/EC-23-0011
Bojesen, A., Kristensen, K., Birkebaek, N. H., Fedder, J., Mosekilde, L., Bennett, E. P.
, Laurberg, P., Frystyk, J., Flyvbjerg, A., Christiansen, J. S. & Gravholt, C. H. (2006).
The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism.
Diabetes Care,
29(7), 1591-8.
https://doi.org/10.2337/dc06-0145
Bendix, L.
, Horn, P. B., Jensen, U. B., Rubelj, I. & Kolvraa, S. (2010).
The load of short telomeres, estimated by a new method, Universal STELA, correlates with number of senescent cells.
Aging Cell,
9(3), 383-97.
https://doi.org/10.1111/j.1474-9726.2010.00568.x
Vogel, I., Thorsen, P., Hogan, V. K., Schieve, L. A.
, Jacobsson, B. & Ferre, C. D. (2006).
The joint effect of vaginal Ureaplasma urealyticum and bacterial vaginosis on adverse pregnancy outcomes.
Acta Obstetricia et Gynecologica Scandinavica,
85(7), 778-85.
https://doi.org/10.1080/00016340500442423
Thomsen, A. M. L., Ramlau-Hansen, C. H., Olsen, J., Brix, N., Andersen, A.-M. N.
, Lunddorf, L. L. H. & Ernst, A. (2022).
The influence of parental age on timing of puberty: A study in the Danish National Birth Cohort.
Scandinavian Journal of Public Health,
50(5), 629-637.
https://doi.org/10.1177/14034948211019794
Figlioli, G., Bogliolo, M., Catucci, I., Caleca, L., Lasheras, S. V., Pujol, R., Kiiski, J. I., Muranen, T. A., Barnes, D. R., Dennis, J., Michailidou, K., Bolla, M. K., Leslie, G., Aalfs, C. M., ABCTB Investigators, Adank, M. A., Adlard, J., Agata, S., Cadoo, K. ... KConFab (2019).
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
npj Breast Cancer,
5, Article 38.
https://doi.org/10.1038/s41523-019-0127-5
Gaml-Sørensen, A., Brix, N., Ernst, A., Lunddorf, L. L. H., Lindh, C.
, Toft, G., Henriksen, T. B., Arah, O. A. & Ramlau-Hansen, C. H. (2023).
The estimated effect of season and vitamin D in the first trimester on pubertal timing in girls and boys: a cohort study and an instrumental variable analysis.
International Journal of Epidemiology,
52(5), 1328–1340.
https://doi.org/10.1093/ije/dyad060
Toth, A. E., Siupka, P., P Augustine, T. J.
, Venø, S. T., Thomsen, L. B., Moos, T., Lohi, H. T.
, Madsen, P., Lykke-Hartmann, K. & Nielsen, M. S. (2018).
The Endo-Lysosomal System of Brain Endothelial Cells Is Influenced by Astrocytes In Vitro.
Molecular Neurobiology,
55(11), 8522-8537.
https://doi.org/10.1007/s12035-018-0988-x
Loo, C. K. C., Pereira, T. N., Pozniak, K. N., Ramsing, M.
, Vogel, I. & Ramm, G. A. (2015).
The development of hepatic stellate cells in normal and abnormal human fetuses - an immunohistochemical study.
Physiological Reports,
3(8).
https://doi.org/10.14814/phy2.12504
Gilling, M.
, Budtz-Jorgensen, E., Boonen, S. E.
, Lildballe, D., Bojesen, A., Hertz, J. M. & Sorensen, S. A. (2017).
The Danish HD Registrya nationwide family registry of HD families in Denmark.
Clinical Genetics,
92(3), 338-341.
https://doi.org/10.1111/cge.12984
Berthelsen, M. F., Riedel, M., Cai, H., Skaarup, S. H., Alstrup, A. K. O., Dagnæs-Hansen, F., Luo, Y., Jensen, U. B., Hager, H.
, Liu, Y., Callesen, H., Vendelbo, M. H., Jakobsen, J. E. & Thomsen, M. K. (2021).
The CRISPR/Cas9 Minipig—A Transgenic Minipig to Produce Specific Mutations in Designated Tissues.
Cancers,
13(12), Article 3024.
https://doi.org/10.3390/cancers13123024
Zangenberg, M.
, Grubach, L., Aggerholm, A., Silkjaer, T., Juhl-Christensen, C., Nyvold, C. G., Kjeldsen, E., Ommen, H. B. & Hokland, P. (2009).
The combined expression of HOXA4 and MEIS1 is an independent prognostic factor in patients with AML.
European Journal of Haematology,
83(5), 439-48.
https://doi.org/10.1111/j.1600-0609.2009.01309.x
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J.
, Andersen, N. H. & Skakkebaek, A. (2023).
The Changing Face of Turner Syndrome.
Endocrine Reviews,
44(1), 33-69.
https://doi.org/10.1210/endrev/bnac016
Moghadasi, S., Meeks, H. D., Vreeswijk, P. M., Janssen, L. A. M., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Van Overeem Hansen, T., Thomassen, M.
, Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A. M.
, Pedersen, I. S., Caputo, S. M. ... García, E. G. (2018).
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Journal of Medical Genetics,
55(1), 15-20.
https://doi.org/10.1136/jmedgenet-2017-104560
Sundvall Germeys, L. K. M., Lund, H.
, Niemann, I., Jensen, U. B., Bolund, L. & Sunde, L. (2013).
Tetraploidy in hydatidiform moles.
Human Reproduction.
https://doi.org/10.1093/humrep/det132
Chang, S., Biltoft, D.
, Skakkebæk, A., Fedder, J.
, Bojesen, A., Bor, M. V.
, Gravholt, C. H. & Münster, A.-M. B. (2019).
Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study.
Thrombosis Research,
182, 175-181.
https://doi.org/10.1016/j.thromres.2019.08.011
Chang, S., Just, J., Skakkebæk, A., Johannsen, E. B., Fedder, J.
, Gravholt, C. H. & Münster, A.-M. B. (2024).
Testosterone replacement therapy in Klinefelter syndrome - follow-up study associating hemostasis and RNA expression.
The Journal of clinical endocrinology and metabolism,
109(4), 978–991.
https://doi.org/10.1210/clinem/dgad658
Lautrup, C. K., Kjaergaard, S., Brøndum-Nielsen, K., Fagerberg, C.
, Hertz, J. M., Petersen, O. B., Jørgensen, M. W.
& Vogel, I. (2008).
Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype.
Acta Obstetricia et Gynecologica Scandinavica,
87(11), 1252-5.
https://doi.org/10.1080/00016340802482994
Hiort, M., Rohayem, J., Knaf, R., Laurentino, S.
, Berglund, A., Gravholt, C. H., Gromoll, J. & Wistuba, J. (2023).
Testicular architecture of men with 46,XX testicular Disorders of Sex Development.
Sexual Development,
17(1), 32-42.
https://doi.org/10.1159/000528955
Lou, S., Carstensen, K., Petersen, O. B., Nielsen, C. P., Hvidman, L., Lanther, M. R.
& Vogel, I. (2018).
Termination of pregnancy following a prenatal diagnosis of Down syndrome: a qualitative study of the decision-making process of pregnant couples.
Acta Obstetricia et Gynecologica Scandinavica,
97(10), 1228-1236.
https://doi.org/10.1111/aogs.13386
Byrjalsen, A., Bygum, A.
, Lautrup, C. K., Frederiksen, A. L., Fialla, A. D., Raaschou-Jensen, K.
, Bendstrup, E., Madsen, T. N., Klarskov, M. & Jelsig, A. M. (2022).
Telomersygdomme.
Ugeskrift for Læger,
184(28), Article V03220220.
Byrjalsen, A., Bygum, A.
, Lautrup, C. K., Frederiksen, A. L., Fialla, A. D., Raaschou-Jensen, K.
, Bendstrup, E., Masmas, T. N., Klarskov, M. & Jelsig, A. M. (2023).
Telomersygdomme.
Ugeskrift for Laeger,
185(1), 53-57.
Bancroft, E. K., Page, E. C., Castro, E., Lilja, H., Vickers, A., Sjoberg, D., Assel, M., Foster, C. S., Mitchell, G., Drew, K., Mæhle, L., Axcrona, K., Evans, D. G., Bulman, B., Eccles, D., McBride, D., van Asperen, C., Vasen, H., Kiemeney, L. A. ... IMPACT Collaborators (2014).
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.
European Urology (Italian Edition),
66(3), 489-99.
https://doi.org/10.1016/j.eururo.2014.01.003
Petersen, J. K., Boldt, H. B., Sørensen, M. D., Blach, S., Dahlrot, R. H.
, Hansen, S., Burton, M., Thomassen, M., Kruse, T., Poulsen, F. R., Andreasen, L., Hager, H., Ulhøi, B. P., Lukacova, S., Reifenberger, G.
& Kristensen, B. W. (2021).
Targeted next-generation sequencing of adult gliomas for retrospective prognostic evaluation and up-front diagnostics.
Neuropathology and Applied Neurobiology,
47(1), 108-126.
https://doi.org/10.1111/nan.12645
Rasmussen, M., Sunde, L., Nielsen, M. L., Ramsing, M.
, Petersen, A., Hjortshøj, T. D., Olsen, T. E., Tabor, A., Hertz, J. M., Johnsen, I., Sperling, L.
, Petersen, O. B., Jensen, U. B., Møller, F. G.
, Petersen, M. B. & Lildballe, D. L. (2018).
Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies.
Clinical Genetics,
93(4), 860–869.
https://doi.org/10.1111/cge.13185
Vorup-Jensen, T., Jensen, U. B., Liu, H., Kawasaki, T., Uemura, K.
, Thiel, S., Dagnaes-Hansen, F. & Jensen, T. G. (2001).
Tail-vein injection of mannan-binding lectin DNA leads to high expression levels of multimeric protein in liver.
Molecular Therapy,
3(6), 867-74.
https://doi.org/10.1006/mthe.2001.0335
Lisby, M., Bonnerup, D. K., B., B., Gregersen, P. A., Jensen, J.
& Rungby, J. (2010).
Systematic medication review and health-related outcome in elderly patients acutely admitted to an orthopaedic ward: a randomised controlled study. Poster session presented at Danish Society for Emergency Medicine: Research Symposium 2010, Denmark.
https://doi.org/10.1186/1757-7241-18-S1P31
Jelsig, A. M., van Overeem Hansen, T., Gede, L. B., Qvist, N.
, Christensen, L.-L., Lautrup, C. K., Frederiksen, J. H.
, Sunde, L., Ousager, L. B.
, Ljungmann, K., Bertelsen, B. & Karstensen, J. G. (2023).
Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.
Clinical Genetics,
104(1), 81-89.
https://doi.org/10.1111/cge.14337
Lautrup, C. K., Mikkelsen, E. M., Lash, T. L., Katballe, N.
& Sunde, L. (2015).
Survival in familial colorectal cancer: a Danish cohort study.
Familial Cancer,
14(4), 553-9.
https://doi.org/10.1007/s10689-015-9812-1
Dominguez-Valentin, M., Seppälä, T. T., Sampson, J. R., MacRae, F., Winship, I., Evans, D. G., Scott, R. J., Burn, J., Möslein, G., Bernstein, I., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Lindblom, A., Plazzer, J. P., Tjandra, D., Thomas, H., Green, K., Lalloo, F. ... Møller, P. (2019).
Survival by colon cancer stage and screening interval in Lynch syndrome: A prospective Lynch syndrome database report.
Hereditary Cancer in Clinical Practice,
17(1), Article 28.
https://doi.org/10.1186/s13053-019-0127-3