Niebuhr E - Search Results

1

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.

Nielsen JE, Koefoed P, Abell K, Hasholt L, Eiberg H, Fenger K, Niebuhr E, Sørensen SA. Nielsen JE, et al. Among authors: niebuhr e. Hum Mol Genet. 1997 Oct;6(11):1811-6. doi: 10.1093/hmg/6.11.1811. Hum Mol Genet. 1997. PMID: 9302257

2

Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material.

Bisgaard ML, Eiberg H, Møller N, Niebuhr E, Mohr J. Bisgaard ML, et al. Among authors: niebuhr e. Clin Genet. 1987 Aug;32(2):118-9. doi: 10.1111/j.1399-0004.1987.tb03337.x. Clin Genet. 1987. PMID: 3652490

3

Familial occurrence of Hirschsprung's disease.

Russell MB, Russell CA, Fenger K, Niebuhr E. Russell MB, et al. Among authors: niebuhr e. Clin Genet. 1994 May;45(5):231-5. doi: 10.1111/j.1399-0004.1994.tb04147.x. Clin Genet. 1994. PMID: 8076407

4

Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate.

Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. Bisgaard ML, et al. Among authors: niebuhr e. Hum Mutat. 1994;3(2):121-5. doi: 10.1002/humu.1380030206. Hum Mutat. 1994. PMID: 8199592

5

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Bergthorsson JT, Ejlertsen B, Olsen JH, Borg A, Nielsen KV, Barkardottir RB, Klausen S, Mouridsen HT, Winther K, Fenger K, Niebuhr A, Harboe TL, Niebuhr E. Bergthorsson JT, et al. Among authors: niebuhr e. J Med Genet. 2001 Jun;38(6):361-8. doi: 10.1136/jmg.38.6.361. J Med Genet. 2001. PMID: 11389159 Free PMC article.

6

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth.

Hansen L, Kreiborg S, Jarlov H, Niebuhr E, Eiberg H. Hansen L, et al. Among authors: niebuhr e. Eur J Oral Sci. 2007 Aug;115(4):330-3. doi: 10.1111/j.1600-0722.2007.00457.x. Eur J Oral Sci. 2007. PMID: 17697174

7

Cystic fibrosis; hint of linkage with F13B.

Eiberg H, Schmiegelow K, Koch C, Mohr J, Schwartz M, Niebuhr E. Eiberg H, et al. Among authors: niebuhr e. Clin Genet. 1985 Feb;27(2):206. doi: 10.1111/j.1399-0004.1985.tb00213.x. Clin Genet. 1985. PMID: 3856494 No abstract available.

8

A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes.

Yang HM, Lund T, Niebuhr E, Nørby S, Schwartz M, Shen L. Yang HM, et al. Among authors: niebuhr e. Hum Genet. 1990 Jun;85(1):25-30. doi: 10.1007/BF00276321. Hum Genet. 1990. PMID: 1972695

9

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.

Schwartz M, Yang HM, Niebuhr E, Rosenberg T, Page DC. Schwartz M, et al. Among authors: niebuhr e. Hum Genet. 1988 Feb;78(2):156-60. doi: 10.1007/BF00278188. Hum Genet. 1988. PMID: 3422216

10

Extreme variant of the short arm of chromosome 15.

Friedrich U, Caprani M, Niebuhr E, Therkelsen AJ, Jørgensen AL. Friedrich U, et al. Among authors: niebuhr e. Hum Genet. 1996 Jun;97(6):710-3. doi: 10.1007/BF02346177. Hum Genet. 1996. PMID: 8641684

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