Eiberg H - Search Results

1

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

Hansen L, Yao W, Eiberg H, Funding M, Riise R, Kjaer KW, Hejtmancik JF, Rosenberg T. Hansen L, et al. Among authors: eiberg h. Mol Vis. 2006 Sep 1;12:1033-9. Mol Vis. 2006. PMID: 16971895 Free article.

2

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T. Hansen L, et al. Among authors: eiberg h. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3937-44. doi: 10.1167/iovs.07-0013. Invest Ophthalmol Vis Sci. 2007. PMID: 17724170

3

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

Hansen L, Eiberg H, Rosenberg T. Hansen L, et al. Among authors: eiberg h. Mol Vis. 2007 Oct 18;13:2019-22. Mol Vis. 2007. PMID: 17982426

4

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

Hansen L, Mikkelsen A, Nürnberg P, Nürnberg G, Anjum I, Eiberg H, Rosenberg T. Hansen L, et al. Among authors: eiberg h. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303. doi: 10.1167/iovs.08-3149. Epub 2009 Jan 31. Invest Ophthalmol Vis Sci. 2009. PMID: 19182255

5

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T. Hansen L, et al. Among authors: eiberg h. Eur J Hum Genet. 2005 Dec;13(12):1275-84. doi: 10.1038/sj.ejhg.5201491. Eur J Hum Genet. 2005. PMID: 16151413

6

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.

Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L. Eiberg H, et al. Hum Genet. 2008 Mar;123(2):177-87. doi: 10.1007/s00439-007-0460-x. Epub 2008 Jan 3. Hum Genet. 2008. PMID: 18172690

7

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.

Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L. Anjum I, et al. Among authors: eiberg h. Mol Vis. 2010 Mar 30;16:549-55. Mol Vis. 2010. PMID: 20361012 Free PMC article.

8

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.

9

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.

Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N. Kjaer KW, et al. Among authors: eiberg h. Am J Med Genet A. 2004 Jun 1;127A(2):152-7. doi: 10.1002/ajmg.a.20614. Am J Med Genet A. 2004. PMID: 15108203

10

Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1.

Eiberg H, Hansen L, Hansen C, Mohr J, Teglbjaerg PS, Kjaer KW. Eiberg H, et al. Am J Med Genet A. 2005 Feb 15;133A(1):44-7. doi: 10.1002/ajmg.a.30568. Am J Med Genet A. 2005. PMID: 15637721

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