Partial monosomy 8p with minimal dysmorphic signs.

Por Blennow, E, Bröndum-Nielsen, K
Publicado em 1990

5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.

Por Tommerup, N, Poulsen, H, Brøndum-Nielsen, K
Publicado em 1981

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

Por Warburg, M, Bugge, M, Brøndum-Nielsen, K
Publicado em 1995

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Por Grønskov, K, Hjalgrim, H, Bjerager, M O, Brøndum-Nielsen, K
Publicado em 1997

Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome

Por BORCK, G, WIRTH, J, HARDT, T, TONNIES, H, BRONDUM-NIELSEN, K, BUGGE, M, TOMMERUP, N, NOTHWANG, H, ROPERS, H, HAAF, T
Publicado em 2001

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate re...

Por Wirth, J, Nothwang, H, van der Maarel, S, Menzel, C, Borck, G, Lopez-Pajares, I, Brondum-Nielsen, K, Tommerup, N, Bugge, M, Ropers, H, Haaf, T
Publicado em 1999

Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden.

Por Johannsson, O., Ostermeyer, E. A., Håkansson, S., Friedman, L. S., Johansson, U., Sellberg, G., Brøndum-Nielsen, K., Sele, V., Olsson, H., King, M. C., Borg, A.
Publicado em 1996

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Por Bugge, M., Bruun-Petersen, G., Brondum-Nielsen, K., Friedrich, U., Hansen, J., Jensen, G., Jensen, P., Kristoffersson, U., Lundsteen, C., Niebuhr, E., Rasmussen, K., Rasmussen, K., Tommerup, N.
Publicado em 2000

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Por Devriendt, K, Matthijs, G, Van Dael, R, Gewillig, M, Eyskens, B, Hjalgrim, H, Dolmer, B, McGaughran, J, Bröndum-Nielsen, K, Marynen, P, Fryns, J P, Vermeesch, J R
Publicado em 1999

Reply: Increased risk of breast cancer among female relatives of patients with Ataxia-Telangiectasia: a causal relationship?

Por Olsen, J H, Hahnemann, J M D, Børresen-Dale, A-L, Tretli, S, Kleinerman, R, Sankila, R, Hammarström, L, Robsahm, T E, Kääriäinen, H, Bregård, A, Brøndum-Nielsen, K, Yuen, J, Tucker, M
Publicado em 2005

Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia

Por Olsen, J H, Hahnemann, J M D, Børresen-Dale, A-L, Tretli, S, Kleinerman, R, Sankila, R, Hammarström, L, Robsahm, T E, Kääriäinen, H, Bregård, A, Brøndum-Nielsen, K, Yuen, J, Tucker, M
Publicado em 2005

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Por 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
Publicado em 1997