Tommerup N - Search Results

1

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M. Bondurand N, et al. Among authors: tommerup n. Hum Mol Genet. 1999 Sep;8(9):1785-9. doi: 10.1093/hmg/8.9.1785. Hum Mol Genet. 1999. PMID: 10441344

2

The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.

Warburg M, Tommerup N, Vestermark S, Parving A, Weismann K, Russell B, Thomsen HK. Warburg M, et al. Among authors: tommerup n. Ophthalmic Paediatr Genet. 1990 Sep;11(3):201-7. doi: 10.3109/13816819009020980. Ophthalmic Paediatr Genet. 1990. PMID: 2280978

3

Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.

Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M. Tranebjaerg L, et al. Among authors: tommerup n. Am J Med Genet. 1988 Apr;29(4):739-53. doi: 10.1002/ajmg.1320290403. Am J Med Genet. 1988. PMID: 3400720

4

Ring chromosome 22 and neurofibromatosis.

Tommerup N, Warburg M, Gieselmann V, Hansen BR, Koch J, Petersen GB. Tommerup N, et al. Clin Genet. 1992 Oct;42(4):171-7. doi: 10.1111/j.1399-0004.1992.tb03233.x. Clin Genet. 1992. PMID: 1424240

5

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC. Breuning MH, et al. Among authors: tommerup n. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.

6

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al. Petrij F, et al. Among authors: tommerup n. Nature. 1995 Jul 27;376(6538):348-51. doi: 10.1038/376348a0. Nature. 1995. PMID: 7630403

7

Mutational analysis of the human FATE gene in 144 infertile men.

Olesen C, Silber J, Eiberg H, Ernst E, Petersen K, Lindenberg S, Tommerup N. Olesen C, et al. Among authors: tommerup n. Hum Genet. 2003 Aug;113(3):195-201. doi: 10.1007/s00439-003-0974-9. Epub 2003 Jun 14. Hum Genet. 2003. PMID: 12811541

8

No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma.

Hofstra RM, Cheng NC, Hansen C, Stulp RP, Stelwagen T, Clausen N, Tommerup N, Caron H, Westerveld A, Versteeg R, Buys CH. Hofstra RM, et al. Among authors: tommerup n. Hum Genet. 1996 Mar;97(3):362-4. doi: 10.1007/BF02185773. Hum Genet. 1996. PMID: 8786083

9

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF. Bruford EA, et al. Among authors: tommerup n. Genomics. 1997 Apr 1;41(1):93-9. doi: 10.1006/geno.1997.4613. Genomics. 1997. PMID: 9126487

10

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.

Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM. Shoichet SA, et al. Among authors: tommerup n. Hum Genet. 2005 Oct;117(6):536-44. doi: 10.1007/s00439-005-1310-3. Epub 2005 Aug 17. Hum Genet. 2005. PMID: 16133170

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

349 results

Search Page

Filters