檢索結果 - Tommerup, N

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. 由 Tommerup, N

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A familial X;autosome translocation associated with Becker type muscular dystrophy? 由 Tommerup, N

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Constitutional ring chromosomes and tumour suppressor genes. 由 Tommerup, N, Lothe, R

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A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders. 由 Tommerup, N, Tümer, Z, Tønnesen, T, Horn, N

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5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. 由 Tommerup, N, Poulsen, H, Brøndum-Nielsen, K

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Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). 由 Tommerup, N, Brandt, C A, Pedersen, S, Bolund, L, Kamper, J

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Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons. 由 Nielsen, K B, Tommerup, N, Jespersen, B, Nygaard, P, Kleif, L

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New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q. 由 Petersen, M B, Tranebjaerg, L, Tommerup, N, Nygaard, P, Edwards, H

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Intrafamilial variation of the phenotype in Bardet-Biedl syndrome 由 Riise, R., Andreasson, S., Borgstrom, M., Wright, A., Tommerup, N., Rosenberg, T., Tornqvist, K.

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Occurrence of cancer in women with Turner syndrome. 由 Hasle, H., Olsen, J. H., Nielsen, J., Hansen, J., Friedrich, U., Tommerup, N.

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Not para-, not peri-, but centric inversion of chromosome 12. 由 Silahtaroglu, A N, Hacihanefioglu, S, Güven, G S, Cenani, A, Wirth, J, Tommerup, N, Tümer, Z

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Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth? 由 Okamoto, K, Morison, I M, Reeve, A E, Tommerup, N, Wiedemann, H R, Friedrich, U

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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) 由 Kjaer, K, Hansen, L, Schwabe, G, Marques-de-Faria, A, Eiberg, H, Mundlos, S, Tommerup, N, Rosenberg, T

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A mutation in the receptor binding site of GDF5 causes Mohr‐Wriedt brachydactyly type A2 由 Kjaer, K W, Eiberg, H, Hansen, L, van der Hagen, C B, Rosendahl, K, Tommerup, N, Mundlos, S

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Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome 由 BORCK, G, WIRTH, J, HARDT, T, TONNIES, H, BRONDUM-NIELSEN, K, BUGGE, M, TOMMERUP, N, NOTHWANG, H, ROPERS, H, HAAF, T

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Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) 由 Hertz, J, Sivertsen, B, Silahtaroglu, A, Bugge, M, Kalscheuer, V, Weber, A, Wirth, J, Ropers, H, Tommerup, N, Tumer, Z

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

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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 由 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

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Breakpoints around the HOXD cluster result in various limb malformations 由 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

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

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