Tommerup N - Search Results

1

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.

Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM, Thomas NS. Gilling M, et al. Among authors: tommerup n. Am J Hum Genet. 2006 May;78(5):878-883. doi: 10.1086/503632. Epub 2006 Mar 17. Am J Hum Genet. 2006. PMID: 16642442 Free PMC article.

2

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.

Tümer Z, Chelly J, Tommerup N, Ishikawa-Brush Y, Tønnesen T, Monaco AP, Horn N. Tümer Z, et al. Among authors: tommerup n. Hum Mol Genet. 1992 Oct;1(7):483-9. doi: 10.1093/hmg/1.7.483. Hum Mol Genet. 1992. PMID: 1307248

3

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.

Tümer Z, Tommerup N, Tønnesen T, Kreuder J, Craig IW, Horn N. Tümer Z, et al. Among authors: tommerup n. Hum Genet. 1992 Mar;88(6):668-72. doi: 10.1007/BF02265295. Hum Genet. 1992. PMID: 1348049

4

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.

Orstavik KH, Tangsrud SE, Kiil R, Hansteen IL, Steen-Johnsen J, Cassidy SB, Martony A, Anvret M, Tommerup N, Bröndum-Nielsen K. Orstavik KH, et al. Among authors: tommerup n. Am J Med Genet. 1992 Nov 1;44(4):534-8. doi: 10.1002/ajmg.1320440431. Am J Med Genet. 1992. PMID: 1442901

5

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

Tommerup N, Poulsen H, Brøndum-Nielsen K. Tommerup N, et al. J Med Genet. 1981 Oct;18(5):374-6. doi: 10.1136/jmg.18.5.374. J Med Genet. 1981. PMID: 6460104 Free PMC article.

6

Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes.

Silahtaroglu AN, Tümer Z, Kristensen T, Sottrup-Jensen L, Tommerup N. Silahtaroglu AN, et al. Among authors: tommerup n. Cytogenet Cell Genet. 1993;62(4):214-6. doi: 10.1159/000133479. Cytogenet Cell Genet. 1993. PMID: 7679961

7

Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly.

Tommerup N, Mortensen E, Nielsen MH, Wegner RD, Schindler D, Mikkelsen M. Tommerup N, et al. Hum Genet. 1993 Oct;92(4):339-46. doi: 10.1007/BF01247331. Hum Genet. 1993. PMID: 7693575

8

[Identification of cancer genes. The need for diagnosis and counseling of families with cancer].

Brøndum-Nielsen K, Tommerup N. Brøndum-Nielsen K, et al. Among authors: tommerup n. Ugeskr Laeger. 1995 Jun 12;157(24):3462-3. Ugeskr Laeger. 1995. PMID: 7792972 Danish. No abstract available.

9

A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome.

Tommerup N, Aagaard L, Lund CL, Boel E, Baxendale S, Bates GP, Lehrach H, Vissing H. Tommerup N, et al. Hum Mol Genet. 1993 Oct;2(10):1571-5. doi: 10.1093/hmg/2.10.1571. Hum Mol Genet. 1993. PMID: 8268908

10

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

Tommerup N, Brandt CA, Pedersen S, Bolund L, Kamper J. Tommerup N, et al. J Med Genet. 1993 Nov;30(11):958-61. doi: 10.1136/jmg.30.11.958. J Med Genet. 1993. PMID: 8301654 Free PMC article.

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