Tommerup N - Search Results

1

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

2

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

3

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

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

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

6

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.

Midro AT, Tommerup N, Borys J, Panasiuk B, Kosztyła-Hojna B, Zalewska R, Konstantynowicz J, Łebkowska U, Cooper L, Scherer SE, Mehrjouy MM, Liu Q, Skowroński R, Stankiewicz P. Midro AT, et al. Among authors: tommerup n. Clin Genet. 2019 Apr;95(4):534-536. doi: 10.1111/cge.13490. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633344 No abstract available.

7

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

Tommerup N, Tümer Z, Tønnesen T, Horn N. Tommerup N, et al. J Med Genet. 1993 Apr;30(4):314-5. doi: 10.1136/jmg.30.4.314. J Med Genet. 1993. PMID: 8487278 Free PMC article. No abstract available.

8

Isolated and syndromic forms of congenital anosmia.

Karstensen HG, Tommerup N. Karstensen HG, et al. Among authors: tommerup n. Clin Genet. 2012 Mar;81(3):210-5. doi: 10.1111/j.1399-0004.2011.01776.x. Epub 2011 Oct 12. Clin Genet. 2012. PMID: 21895637 Review.

9

Further delineation of the 22q13 deletion syndrome.

Lindquist SG, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, Kristensen K, Lillquist K, Smedegaard HH, Skov L, Tommerup N, Brøndum-Nielsen K. Lindquist SG, et al. Among authors: tommerup n. Clin Dysmorphol. 2005 Apr;14(2):55-60. Clin Dysmorphol. 2005. PMID: 15770125

10

Mowat-Wilson syndrome: an underdiagnosed syndrome?

Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z. Engenheiro E, et al. Among authors: tommerup n. Clin Genet. 2008 Jun;73(6):579-84. doi: 10.1111/j.1399-0004.2008.00997.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445050

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