Couch, F. J., Wang, X., McGuffog, L., Lee, A. R., Olswold, C., Kuchenbaecker, K. B., Soucy, P., Fredericksen, Z., Barrowdale, D., Dennis, J., Gaudet, M. M., Dicks, E., Kosel, M., Healey, S., Sinilnikova, O. M., Lee, A., Bacot, F., Vincent, D., Hogervorst, F. B. L.
... Skytte, A.-B. S. (2013).
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.
PLoS genetics,
9(3), e1003212.
https://doi.org/10.1371/journal.pgen.1003212
Fagerberg, C. R., Graakjaer, J., Heinl, U. D., Ousager, L. B., Dreyer, I., Kirchhoff, E. M., Rasmussen, A. A.
, Lautrup, C. K., Birkebæk, N. & Sorensen, K. (2013).
Heart defects and other features of the 22q11 distal deletion syndrome.
European Journal of Medical Genetics,
56(2), 98-107.
https://doi.org/10.1016/j.ejmg.2012.09.009
Gaudet, M. M., Kuchenbaecker, K. B., Vijai, J., Klein, R. J., Kirchhoff, T., McGuffog, L., Barrowdale, D., Dunning, A. M., Lee, A. R., Dennis, J., Healey, S., Dicks, E., Soucy, P., Sinilnikova, O. M., Pankratz, V. S., Wang, X., Eldridge, R. C., Tessier, D. C., Vincent, D. ... KConFab Investigators (2013).
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk.
PLoS genetics,
9(3), e1003173.
https://doi.org/10.1371/journal.pgen.1003173
Groth, K. A., Skakkebæk, A., Høst, C., Gravholt, C. H. & Bojesen, A. (2013).
Klinefelter syndrome--a clinical update.
Journal of Clinical Endocrinology and Metabolism,
98(1), 20-30.
https://doi.org/10.1210/jc.2012-2382
Reinholdt, J., Poulsen, K., Brinkmann, C. R., Hoffmann, S. V., Stapulionis, R., Enghild, J. J., Jensen, U. B., Boesen, T. & Vorup-Jensen, T. (2013).
Monodisperse and LPS-free Aggregatibacter actinomycetemcomitans leukotoxin: Interactions with human β2 integrins and erythrocytes.
BBA General Subjects,
1834(2), 546-558.
https://doi.org/10.1016/j.bbapap.2012.12.004
Bojesen, S. E., Pooley, K. A., Johnatty, S. E., Beesley, J., Michailidou, K., Tyrer, J. P., Edwards, S. L., Pickett, H. A., Shen, H. C., Smart, C. E., Hillman, K. M., Mai, P. L., Lawrenson, K., Stutz, M. D., Lu, Y., Karevan, R., Woods, N., Johnston, R. L., French, J. D. ... Australian Cancer Study (2013).
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Nature Genetics,
45(4), 371-84.
https://doi.org/10.1038/ng.2566
Rasmussen, T. B., Palmfeldt, J., Nissen, P. H., Magnoni, R.
, Dalager, S., Jensen, U. B., Kim, W. Y., Heickendorff, L., Mølgaard, H., Jensen, H. K., Baandrup, U. T., Bross, P. & Mogensen, J. (2013).
Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy.
Human Mutation.
https://doi.org/10.1002/humu.22289
Ekelund, C. K.
, Petersen, O. B., Hyett, J., Ball, S., Tabor, A.
& Vogel, I. (2013).
Nuchal translucency measurements in fetuses according to karyotype in a low risk population. Abstract from ISUOG World Congress 2013, Sydney, Australia.
https://doi.org/10.1002/uog.12861
Ekelund, C., Fagerberg, C. R., Kjærgaard, S., Lindstrøm, M., Nørgaard, L. N., Skibsted, L., Sperling, L., Sundberg, K. M., Tabor, A.
, Vogel, I. & Petersen, O. B. (2013).
Prænatal array-CGH (Comparativ Genomisk Hybridisering). DFMS Guideline
Rasmussen, T. B., Hansen, J., Nissen, P. H., Palmfeldt, J., Dalager, S., Jensen, U. B., Kim, W. Y., Heickendorff, L., Mølgaard, H., Jensen, H. K., Sørensen, K. E., Baandrup, U. T., Bross, P. & Mogensen, J. (2013).
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
Clinical Genetics,
84(1), 20-30.
https://doi.org/10.1111/cge.12056
Madariaga, L., Morinière, V., Jeanpierre, C., Bouvier, R., Loget, P., Martinovic, J., Dechelotte, P., Leporrier, N., Thauvin-Robinet, C.
, Jensen, U. B., Gaillard, D., Mathieu, M., Turlin, B., Attie-Bitach, T., Salomon, R., Gübler, M.-C., Antignac, C. & Heidet, L. (2013).
Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes.
Clinical Journal of American Society of Nephrology. .
https://doi.org/10.2215/CJN.10221012
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
Binderup, M. L. M., Bisgaard, S. M. L., Harbud, V., Møller, H. U., Gimsing, S., Friis-Hansen, L. J., Hansen, T. V. O., Bagi, P.
, Knigge, U., Kosteljanetz, M., Bøgeskov, L., Thomsen, C., Gerdes, A.-M. A., Ousager, L. B.
& Sunde, L. (2013).
Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition.
Danish Medical Journal,
60(12), B4763.
Ding, Y. C., McGuffog, L., Healey, S., Friedman, E., Laitman, Y., Paluch-Shimon, S., Kaufman, B., Liljegren, A., Lindblom, A., Olsson, H., Kristoffersson, U., Stenmark-Askmalm, M., Melin, B., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Jakubowska, A., Lubinski, J., Jaworska, K. ... SWE-BRCA (2012).
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.
Cancer Epidemiology, Biomarkers & Prevention,
21(8), 1362-70.
https://doi.org/10.1158/1055-9965.EPI-12-0229
Klein, A., Lillis, S., Munteanu, I., Scoto, M., Zhou, H., Quinlivan, R., Straub, V., Manzur, A. Y., Roper, H., Jeannet, P.-Y., Rakowicz, W., Jones, D. H.
, Jensen, U. B., Wraige, E., Trump, N., Schara, U., Lochmuller, H., Sarkozy, A., Kingston, H. ... Muntoni, F. (2012).
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Human Mutation,
33(6), 981-8.
https://doi.org/10.1002/humu.22056
Antoniou, A. C., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., McGuffog, L., Lee, A. R., Barrowdale, D., Healey, S., Sinilnikova, O. M., Caligo, M. A., Loman, N., Harbst, K., Lindblom, A., Arver, B., Rosenquist, R., Karlsson, P. W., Nathanson, K., Domchek, S. ... CIMBA, SWE-BRCA (2012).
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
Breast Cancer Research,
14(1), R33.
https://doi.org/10.1186/bcr3121
Couch, F. J., Gaudet, M. M., Antoniou, A. C., Ramus, S. J., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., Wang, X., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A. R., Healey, S., Sinilnikova, O. M., Andrulis, I. L., Ozcelik, H., Mulligan, A. M., Thomassen, M. ... OCGN (2012).
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Cancer Epidemiology, Biomarkers & Prevention,
21(4), 645-57.
https://doi.org/10.1158/1055-9965.EPI-11-0888
Krag, K. S., Bojesen, A., Jensen, A. S., Juul, S. & Gravholt, C. H. (2012).
Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study.
BMJ Open,
2(1), e000650.
https://doi.org/10.1136/bmjopen-2011-000650
Klein, A., Lillis, S., Munteanu, I., Scoto, M., Zhou, H., Quinlivan, R., Straub, V., Manzur, A. Y., Roper, H., Jeannet, P. Y., Rakowicz, W., Jones, D. H.
, Jensen, U. B., Wraige, E., Trump, N., Schara, U., Lochmuller, H., Sarkozy, A., Kingston, H. ... Muntoni, F. (2012).
Erratum: Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies.
Human Mutation,
33(8).
https://doi.org/10.1002/humu.22136
Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C.
, Herlin, T., Kim, C. A., Leheup, B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P.
, Schroeder, M., Terhal, P. & Brown, M. A. (2012).
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
American Journal of Human Genetics,
90(3), 494-501.
https://doi.org/10.1016/j.ajhg.2012.01.003
Skakkebæk, A., Pedersen, A. D., Bojesen, A., Hertz, J. M., Wallentin, M., Østergaard, J. R. & Gravholt, C. H. (2012).
Neurocognitive Phenotype and Personality Profile in Men with Klinefelter Syndrome and their Cognitive Vulnerability to Psychiatric Symptoms. Abstract from Dansk Endokrinologisk Selskabs Årsmøde, Horsens, Denmark.
Skakkebæk, A., Pedersen, A. D., Bojesen, A., Hertz, J. M., Wallentin, M., Østergaard, J. R. & Gravholt, C. H. (2012).
Neurocognitive phenotype and personality profile in men with Klinefelter syndrome and their cognitive vulnerability to psychiatric symtoms. Abstract from International/European Society of Endocrinology, Firenze, Italy.
Skakkebæk, A., Pedersen, A. D., Bojesen, A., Hertz, J. M., Wallentin, M., Østergaard, J. R. & Gravholt, C. H. (2012).
Neurocognitive phenotype and personality profile in men with Klinefelter syndrome and their cognitive vulnerability to psychiatric symtoms. Abstract from european human genetic conference, Nürnberg, Germany.
Ramus, S. J., Antoniou, A. C., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., McGuffog, L., Sinilnikova, O. M., Healey, S., Barrowdale, D., Lee, A. R., Thomassen, M., Gerdes, A.-M. A., Kruse, T. A.
, Jensen, U. B., Skytte, A.-B. S., Caligo, M. A., Liljegren, A., Lindblom, A. ... SWE-BRCA (2012).
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Human Mutation,
33(4), 690-702.
https://doi.org/10.1002/humu.22025
Becher, N., Gjørup, V., Christensen, R., Ramsing, M.
, Petersen, O. B., Vogel, I. & Vestergaard, E. M. (2012).
P03.14: A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH.
Ultrasound in Obstetrics & Gynecology,
40(S1), 182-182.
https://doi.org/10.1002/uog./11800
Gjørup, V., Petersen, O. B., Vogel, I., Ramsing, M.
& Sørensen, K. E. (2012).
Pentalogy of Cantrell and hypercoiling of the umbilical cord: Pentalogy of Cantrell and hypercoiling of the umbilical cord. Poster session presented at 22nd World Congress on Ultrasound in Obstetrics and Gynecology, Copenhagen, Denmark.
Bygum, A., Petkov, Y.
, Graakjaer, J., Jensen, U. B. & Fagerberg, C. R. (2012).
Phylloid hypermelanosis in a child with psychomotor delay, cicatricial alopecia, hearing loss and polythelia.
Acta Dermato-Venereologica,
92(2), 191-2.
https://doi.org/10.2340/00015555-1259
Ekelund, C. K.
, Petersen, O. B., Sundberg, K. M.
, Pedersen, F. H., Vogel, I. & Tabor, A. (2012).
Screening performance for trisomy 21 comparing first trimester combined screening and a first trimester contingent screening protocol including ductus venosus and tricuspid flow.
Prenatal Diagnosis,
32(8), 783-788.
https://doi.org/10.1002/pd.3902
Bower, M., Salomon, R., Allanson, J., Antignac, C., Benedicenti, F., Benetti, E., Binenbaum, G.
, Jensen, U. B., Cochat, P., DeCramer, S., Dixon, J., Drouin, R., Falk, M. J., Feret, H., Gise, R., Hunter, A., Johnson, K., Kumar, R., Lavocat, M. P. ... Heidet, L. (2012).
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Human Mutation,
33(3), 457-66.
https://doi.org/10.1002/humu.22020
Thomassen, M.
, Pedersen, I. S., Vogel, I., Hansen, T. V. O., Brasch-Andersen, C., Brasen, C. L., Crüger, D.
, Sunde, L., Nielsen, F. C.
, Jensen, U. B., Bisgaard, M. L., Borg, Å., Gerdes, A.-M. & Kruse, T. A. (2011).
A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.
Breast Cancer Research and Treatment,
128 (1), 179-85.
https://doi.org/10.1007/s10549-010-1272-6
Covaciu, C., Grosso, F., Pisaneschi, E., Zambruno, G.
, Gregersen, P. A., Sommerlund, M., Hertz, J. M. & Castiglia, D. (2011).
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
British Journal of Dermatology,
165(3), 678-82.
https://doi.org/10.1111/j.1365-2133.2011.10414.x
Storm, T., Emma, F.
, Verroust, P. J., Hertz, J. M., Nielsen, R. & Christensen, E. I. (2011).
A patient with cubilin deficiency.
The New England Journal of Medicine,
364(1), 89-91.
https://doi.org/10.1056/NEJMc1009804
Bernstein, I. T.
, Larsen, K. L., Timshel, S., Brandt, C., Dinesen, B., Fenger, M., Gerdes, A.-M. A.
, Iversen, L. H., Madsen, M. R., Okkels, H., Sunde, L., Rahr, H. B., Wikman, F. P. & Rossing, N. (2011).
Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system.
Human Mutation,
32(5), 551-6.
https://doi.org/10.1002/humu.21435
Bojesen, A., Birkebæk, N., Kristensen, K.
, Heickendorff, L., Mosekilde, L., Christiansen, J. S. & Gravholt, C. H. (2011).
Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone.
Osteoporosis International,
22, 1141-50.
https://doi.org/10.1007/s00198-010-1354-7
Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., Lee, A. R., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, G., Putignano, A. L., Varesco, L. ... SWE-BRCA (2011).
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Human Molecular Genetics,
20(16), 3304-21.
https://doi.org/10.1093/hmg/ddr226
Mulligan, A. M., Couch, F. J., Barrowdale, D., Domchek, S. M., Eccles, D., Nevanlinna, H., Ramus, S. J., Robson, M., Sherman, M., Spurdle, A. B., Wappenschmidt, B., Lee, A. R., McGuffog, L., Healey, S., Sinilnikova, O. M., Janavicius, R., Hansen, T. VO., Nielsen, F. C., Ejlertsen, B. L. ... Breast Cancer Family Registry (2011).
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Research,
13(6), R110.
https://doi.org/10.1186/bcr3052
Jakobsen, J. E., Li, J., Moldt, B., Kragh, P. M., Callesen, H., Hertz, J. M., Bolund, L., Jørgensen, A. L., Mikkelsen, J. G. & Nielsen, A. L. (2011).
Establishment of a pig fibroblast-derived cell line for locus-directed transgene expression in cell cultures and blastocysts.
Molecular Biology Reports,
38(1), 151-61.
https://doi.org/10.1007/s11033-010-0089-z
Ekelund, C. K., Petersen, O. B., Skibsted, L., Kjaergaard, S.
, Vogel, I., Tabor, A., The Danish Fetal Medicine Research Group
& Skovbo, P. (2011).
First trimester screening for Trisomy 21 in Denmark: Implications on detection and birth rates of Trisomy 18 and Trisomy 13.
Ultrasound in Obstetrics & Gynecology,
38(2), 140-4.
https://doi.org/10.1002/uog.8929
Leung, T. Y.
, Vogel, I., Lau, T. K., Chong, W., Hyett, J.
, Petersen, O. B. & Chong, K. W. (2011).
Identification of submicroscopic chromosomal aberrations in fetuses with increased: aCGH for increased NT.
Ultrasound in Obstetrics & Gynecology,
38(3), 314-9.
https://doi.org/10.1002/uog.8988
Peixoto, A., Santos, C., Pinheiro, M., Pinto, P., Soares, M. J., Rocha, P., Gusmão, L., Amorim, A., van der Hout, A., Gerdes, A.-M., Thomassen, M., Kruse, T. A., Cruger, D.
, Sunde, L., Bignon, Y.-J., Uhrhammer, N., Cornil, L., Rouleau, E., Lidereau, R. ... Teixeira, M. R. (2011).
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.
Breast Cancer Research and Treatment,
127(3), 671-9.
https://doi.org/10.1007/s10549-010-1036-3