Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

af Tommerup, N
Udgivet 1993

A familial X;autosome translocation associated with Becker type muscular dystrophy?

af Tommerup, N
Udgivet 1991

Constitutional ring chromosomes and tumour suppressor genes.

af Tommerup, N, Lothe, R
Udgivet 1992

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

af Tommerup, N, Tümer, Z, Tønnesen, T, Horn, N
Udgivet 1993

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

af Tommerup, N, Poulsen, H, Brøndum-Nielsen, K
Udgivet 1981

Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).

af Tommerup, N, Brandt, C A, Pedersen, S, Bolund, L, Kamper, J
Udgivet 1993

Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons.

af Nielsen, K B, Tommerup, N, Jespersen, B, Nygaard, P, Kleif, L
Udgivet 1986

New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

af Petersen, M B, Tranebjaerg, L, Tommerup, N, Nygaard, P, Edwards, H
Udgivet 1987

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

af Riise, R., Andreasson, S., Borgstrom, M., Wright, A., Tommerup, N., Rosenberg, T., Tornqvist, K.
Udgivet 1997

Occurrence of cancer in women with Turner syndrome.

af Hasle, H., Olsen, J. H., Nielsen, J., Hansen, J., Friedrich, U., Tommerup, N.
Udgivet 1996

Not para-, not peri-, but centric inversion of chromosome 12.

af Silahtaroglu, A N, Hacihanefioglu, S, Güven, G S, Cenani, A, Wirth, J, Tommerup, N, Tümer, Z
Udgivet 1998

Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?

af Okamoto, K, Morison, I M, Reeve, A E, Tommerup, N, Wiedemann, H R, Friedrich, U
Udgivet 1998

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

af Kjaer, K, Hansen, L, Schwabe, G, Marques-de-Faria, A, Eiberg, H, Mundlos, S, Tommerup, N, Rosenberg, T
Udgivet 2005

A mutation in the receptor binding site of GDF5 causes Mohr‐Wriedt brachydactyly type A2

af Kjaer, K W, Eiberg, H, Hansen, L, van der Hagen, C B, Rosendahl, K, Tommerup, N, Mundlos, S
Udgivet 2006

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

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

Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

af Hertz, J, Sivertsen, B, Silahtaroglu, A, Bugge, M, Kalscheuer, V, Weber, A, Wirth, J, Ropers, H, Tommerup, N, Tumer, Z
Udgivet 2004

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

af 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
Udgivet 1999

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

af Borg, I, Squire, M, Menzel, C, Stout, K, Morgan, D, Willatt, L, O'Brien, P, Ferguson-Smith, M, Ropers, H, Tommerup, N, Kalscheuer, V, Sargan, D
Udgivet 2002

Breakpoints around the HOXD cluster result in various limb malformations

af Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, M, Mundlos, S, Tümer, Z, Kjaer, K, Friedrich, U, Ropers, H‐H, Tommerup, N, Neitzel, H, Kalscheuer, V M
Udgivet 2006

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

af 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.
Udgivet 2000