Eiberg H - Search Results

1

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: eiberg h. 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.

2

Non-disjunction of chromosome 13.

Bugge M, Collins A, Hertz JM, Eiberg H, Lundsteen C, Brandt CA, Bak M, Hansen C, Delozier CD, Lespinasse J, Tranebjaerg L, Hahnemann JM, Rasmussen K, Bruun-Petersen G, Duprez L, Tommerup N, Petersen MB. Bugge M, et al. Among authors: eiberg h. Hum Mol Genet. 2007 Aug 15;16(16):2004-10. doi: 10.1093/hmg/ddm148. Epub 2007 Jun 21. Hum Mol Genet. 2007. PMID: 17584770

3

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Gilling M, Lauritsen MB, Møller M, Henriksen KF, Vicente A, Oliveira G, Cintin C, Eiberg H, Andersen PS, Mors O, Rosenberg T, Brøndum-Nielsen K, Cotterill RM, Lundsteen C, Ropers HH, Ullmann R, Bache I, Tümer Z, Tommerup N. Gilling M, et al. Among authors: eiberg h. Eur J Hum Genet. 2008 Mar;16(3):312-9. doi: 10.1038/sj.ejhg.5201985. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18183041 Free article.

4

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.

Hansen L, Comyn S, Mang Y, Lind-Thomsen A, Myhre L, Jean F, Eiberg H, Tommerup N, Rosenberg T, Pilgrim D. Hansen L, et al. Among authors: eiberg h. Eur J Hum Genet. 2014 Nov;22(11):1290-7. doi: 10.1038/ejhg.2014.21. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549050 Free PMC article.

5

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.

Eiberg H, Mikkelsen AF, Bak M, Tommerup N, Lund AM, Wenzel A, Sabarinathan R, Gorodkin J, Bang-Berthelsen CH, Hansen L. Eiberg H, et al. Mol Vis. 2019 Jan 20;25:1-11. eCollection 2019. Mol Vis. 2019. PMID: 30820140 Free PMC article.

6

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: eiberg h. Hum Genet. 2003 Aug;113(3):195-201. doi: 10.1007/s00439-003-0974-9. Epub 2003 Jun 14. Hum Genet. 2003. PMID: 12811541

7

Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients.

Bak M, Hansen C, Henriksen KF, Hansen L, Pakkenberg H, Eiberg H, Tommerup N. Bak M, et al. Among authors: eiberg h. Brain Res Mol Brain Res. 2004 Jul 26;126(2):207-11. doi: 10.1016/j.molbrainres.2004.04.005. Brain Res Mol Brain Res. 2004. PMID: 15249145

8

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: eiberg h. Hum Mol Genet. 1997 Oct;6(11):1811-6. doi: 10.1093/hmg/6.11.1811. Hum Mol Genet. 1997. PMID: 9302257

9

Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1.

Koefoed P, Hasholt L, Fenger K, Nielsen JE, Eiberg H, Buschard K, Sørensen SA. Koefoed P, et al. Among authors: eiberg h. Hum Genet. 1998 Nov;103(5):564-9. doi: 10.1007/s004390050870. Hum Genet. 1998. PMID: 9860298

10

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.

Bech S, Løkkegaard A, Nielsen TT, Nørremølle A, Grønborg S, Hasholt L, Steffensen GK, Graehn G, Olesen JH, Tommerup N, Mang Y, Bak M, Nielsen JE, Eiberg H, Hjermind LE. Bech S, et al. Among authors: eiberg h. Mov Disord. 2020 Dec;35(12):2343-2347. doi: 10.1002/mds.28244. Epub 2020 Sep 19. Mov Disord. 2020. PMID: 32949189 Free PMC article.

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