Tommerup N - Search Results

1

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.

Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR, Reinwein H, et al. Tommerup N, et al. Nat Genet. 1993 Jun;4(2):170-4. doi: 10.1038/ng0693-170. Nat Genet. 1993. PMID: 8348155

2

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.

3

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G. Wagner T, et al. Among authors: tommerup n. Cell. 1994 Dec 16;79(6):1111-20. doi: 10.1016/0092-8674(94)90041-8. Cell. 1994. PMID: 8001137

4

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.

Schulze A, Hansen C, Skakkebaek NE, Brøndum-Nielsen K, Ledbeter DH, Tommerup N. Schulze A, et al. Among authors: tommerup n. Nat Genet. 1996 Apr;12(4):452-4. doi: 10.1038/ng0496-452. Nat Genet. 1996. PMID: 8630505

5

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A. Minocherhomji S, et al. Among authors: tommerup n. Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1. Hum Mol Genet. 2014. PMID: 24986922 Free PMC article.

6

An excess of chromosome 1 breakpoints in male infertility.

Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. Bache I, et al. Among authors: tommerup n. Eur J Hum Genet. 2004 Dec;12(12):993-1000. doi: 10.1038/sj.ejhg.5201263. Eur J Hum Genet. 2004. PMID: 15367911

7

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.

Bak M, Boonen SE, Dahl C, Hahnemann JM, Mackay DJ, Tümer Z, Grønskov K, Temple IK, Guldberg P, Tommerup N. Bak M, et al. Among authors: tommerup n. BMC Med Genet. 2016 Apr 14;17:29. doi: 10.1186/s12881-016-0292-4. BMC Med Genet. 2016. PMID: 27075368 Free PMC article.

8

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

9

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.

Lüdecke HJ, Johnson C, Wagner MJ, Wells DE, Turleau C, Tommerup N, Latos-Bielenska A, Sandig KR, Meinecke P, Zabel B, et al. Lüdecke HJ, et al. Among authors: tommerup n. Am J Hum Genet. 1991 Dec;49(6):1197-206. Am J Hum Genet. 1991. PMID: 1836105 Free PMC article.

10

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

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