Brøndum-Nielsen K - Search Results

1

Risk for cancer in patients with Bardet-Biedl syndrome and their relatives.

Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K, Olsen JH. Hjortshøj TD, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1699-702. doi: 10.1002/ajmg.a.31805. Am J Med Genet A. 2007. PMID: 17587209

2

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. Hjortshøj TD, et al. Am J Med Genet A. 2008 Feb 15;146A(4):517-20. doi: 10.1002/ajmg.a.32136. Am J Med Genet A. 2008. PMID: 18203199 Free PMC article. No abstract available.

3

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. Hjortshøj TD, et al. Hum Mutat. 2010 Apr;31(4):429-36. doi: 10.1002/humu.21204. Hum Mutat. 2010. PMID: 20120035

4

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.

Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB. Hey CAB, et al. Stem Cell Res. 2018 Aug;31:235-239. doi: 10.1016/j.scr.2018.08.005. Epub 2018 Aug 10. Stem Cell Res. 2018. PMID: 30142598 Free article.

5

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.

Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB. Hey CAB, et al. Stem Cell Res. 2018 Dec;33:46-50. doi: 10.1016/j.scr.2018.09.013. Epub 2018 Sep 20. Stem Cell Res. 2018. PMID: 30312873 Free article.

6

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.

Hey CAB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB. Hey CAB, et al. Among authors: brondum nielsen k. Stem Cell Res. 2019 Dec;41:101594. doi: 10.1016/j.scr.2019.101594. Epub 2019 Nov 4. Stem Cell Res. 2019. PMID: 31760295 Free article.

7

[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms].

Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K. Hjortshøj TD, et al. Ugeskr Laeger. 2005 May 30;167(22):2394-8. Ugeskr Laeger. 2005. PMID: 15987029 Review. Danish. No abstract available.

8

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T. Hjortshøj TD, et al. Br J Ophthalmol. 2009 Mar;93(3):409-13. doi: 10.1136/bjo.2007.131110. Epub 2008 Jul 31. Br J Ophthalmol. 2009. PMID: 18669544

9

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T. Grønskov K, et al. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. doi: 10.1167/iovs.08-2639. Epub 2008 Dec 5. Invest Ophthalmol Vis Sci. 2009. PMID: 19060277

10

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.

Almind GJ, Grønskov K, Milea D, Larsen M, Brøndum-Nielsen K, Ek J. Almind GJ, et al. BMC Med Genet. 2011 Apr 4;12:49. doi: 10.1186/1471-2350-12-49. BMC Med Genet. 2011. PMID: 21457585 Free PMC article.

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