Cornelia de Lange syndrome
Boyle, M.I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A.-M., Tümer, Z.
Published in Clinical genetics (01.07.2015)
Published in Clinical genetics (01.07.2015)
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Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature
Schönewolf‐Greulich, B., Bisgaard, A‐M., Møller, R.S., Dunø, M., Brøndum‐Nielsen, K., Kaur, S., Van Bergen, N.J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J., Tümer, Z.
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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Founding BRCA1 mutations in hereditary breast and ovarian cancer in Southern Sweden
JOHANNSSON, O, OSTERMEYER, E. A, BORG, A, HAKANSSON, S, FRIEDMAN, L. S, JOHANSSON, U, SELLBERG, G, BRØNDUM-NIELSEN, K, SELE, V, OLSSON, H, KING, M.-C
Published in American journal of human genetics (01.03.1996)
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Published in American journal of human genetics (01.03.1996)
Journal Article
Breast cancer after bilateral risk-reducing mastectomy
Skytte, A-B, Crüger, D, Gerster, M, Lænkholm, A-V, Lang, C, Brøndum-Nielsen, K, Andersen, MK, Sunde, L, Kølvraa, S, Gerdes, A-M
Published in Clinical genetics (01.05.2011)
Published in Clinical genetics (01.05.2011)
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Detection of triploidy at 11–14 weeks' gestation: a cohort study of 198 000 pregnant women
Engelbrechtsen, L., Brøndum‐Nielsen, K., Ekelund, C., Tabor, A., Skibsted, L., Farlie, Richard, Hoseth, Eva, Larsen, Torben, Mogensen, Helle, Petersen, Olav Bjørn, Sommer, Steffen, Jensen, Hanne Soendergaard, Sperling, Lene, Jørgensen, Finn Stener, Stornes, Inger, Vejerslev, Lars O., Zingenberg, Helle
Published in Ultrasound in obstetrics & gynecology (01.11.2013)
Published in Ultrasound in obstetrics & gynecology (01.11.2013)
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Journal Article
Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing
Skytte, A-B, Gerdes, A-M, Andersen, MK, Sunde, L, Brøndum-Nielsen, K, Waldstrøm, M, Kølvraa, S, Crüger, D
Published in Clinical genetics (01.04.2010)
Published in Clinical genetics (01.04.2010)
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Journal Article
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
Schönewolf-Greulich, B., Tejada, M.-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A.-M., Tümer, Z.
Published in Clinical genetics (01.06.2016)
Published in Clinical genetics (01.06.2016)
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A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome
Roos, L, Jønch, A E, Kjaergaard, S, Taudorf, K, Simonsen, H, Hamborg-Petersen, B, Brøndum-Nielsen, K, Kirchhoff, M
Published in Journal of medical genetics (01.10.2009)
Published in Journal of medical genetics (01.10.2009)
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Journal Article
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
Ryan, A K, Goodship, J A, Wilson, D I, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, F L, Clayton-Smith, J, Hatchwell, E, McKeown, C, Beemer, F A, Dallapiccola, B, Novelli, G, Hurst, J A, Ignatius, J, Green, A J, Winter, R M, Brueton, L, Brøndum-Nielsen, K, Scambler, P J
Published in Journal of medical genetics (01.10.1997)
Published in Journal of medical genetics (01.10.1997)
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Journal Article
Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries
Olsen, Jørgen H., Hahnemann, Johanne M., Børresen-Dale, Anne-Lise, Brøndum-Nielsen, Karen, Hammarström, Lennart, Kleinerman, Ruth, Kääriäinen, Helena, Lönnqvist, Tuula, Sankila, Risto, Seersholm, Niels, Tretli, Steinar, Yuen, Jonathan, Boice, John D., Tucker, Margaret
Published in JNCI : Journal of the National Cancer Institute (17.01.2001)
Published in JNCI : Journal of the National Cancer Institute (17.01.2001)
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Journal Article
Intermittent loading of teeth restored using prefabricated carbon fiber posts
Isidor, F, Odman, P, Brøndum, K
Published in The International journal of prosthodontics (01.03.1996)
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Published in The International journal of prosthodontics (01.03.1996)
Journal Article
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs
Østergaard, E, Montserrat-Sentis, B, Grønskov, K, Brøndum-Nielsen, K
Published in Clinical genetics (01.10.2002)
Published in Clinical genetics (01.10.2002)
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Journal Article
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia
OLSEN, J. H, HAHNEMANN, J. M. D, BRØNDUM-NIELSEN, K, YUEN, J, TUCKER, M, BØRRESEN-DALE, A.-L, TRETLI, S, KLEINERMAN, R, SANKILA, R, HAMMARSTRÖM, L, ROBSAHM, T. E, KÄÄRIÄINEN, H, BREGARD, A
Published in British journal of cancer (25.07.2005)
Published in British journal of cancer (25.07.2005)
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Journal Article
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome
Boonen, S.E., Stahl, D., Kreiborg, S., Rosenberg, T., Kalscheuer, V., Larsen, L.A., Tommerup, N., Brøndum‐Nielsen, K., Tümer, Z.
Published in American journal of medical genetics. Part A (30.01.2005)
Published in American journal of medical genetics. Part A (30.01.2005)
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