Kloeckener-Gruissem B - Search Results

1

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.

Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W. Kloeckener-Gruissem B, et al. Am J Hum Genet. 2008 Mar;82(3):772-9. doi: 10.1016/j.ajhg.2007.12.013. Epub 2008 Feb 14. Am J Hum Genet. 2008. PMID: 18304496 Free PMC article.

2

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W. Zeitz C, et al. Am J Hum Genet. 2006 Oct;79(4):657-67. doi: 10.1086/508067. Epub 2006 Aug 23. Am J Hum Genet. 2006. PMID: 16960802 Free PMC article.

3

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.

Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B. Abplanalp J, et al. Hum Mol Genet. 2013 Aug 15;22(16):3218-26. doi: 10.1093/hmg/ddt175. Epub 2013 Apr 10. Hum Mol Genet. 2013. PMID: 23578822 Free PMC article.

4

A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.

Kloeckener-Gruissem B, Betts DR, Zankl A, Berger W, Güngör T. Kloeckener-Gruissem B, et al. Am J Med Genet A. 2005 Jul 1;136(1):31-7. doi: 10.1002/ajmg.a.30767. Am J Med Genet A. 2005. PMID: 15952214

5

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W. Zeitz C, et al. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14. doi: 10.1167/iovs.08-1717. Epub 2008 May 16. Invest Ophthalmol Vis Sci. 2008. PMID: 18487375

6

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B. Zuercher J, et al. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3354-61. doi: 10.1167/iovs.10-5193. Epub 2010 Feb 24. Invest Ophthalmol Vis Sci. 2010. PMID: 20181839 Free PMC article.

7

The molecular basis of human retinal and vitreoretinal diseases.

Berger W, Kloeckener-Gruissem B, Neidhardt J. Berger W, et al. Prog Retin Eye Res. 2010 Sep;29(5):335-75. doi: 10.1016/j.preteyeres.2010.03.004. Epub 2010 Mar 31. Prog Retin Eye Res. 2010. PMID: 20362068 Review.

8

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, Macdonald MJ, Nas V, Fry AE, Berger W. Kloeckener-Gruissem B, et al. Eur J Hum Genet. 2013 Mar;21(3):352-6. doi: 10.1038/ejhg.2012.137. Epub 2012 Jun 27. Eur J Hum Genet. 2013. PMID: 22739342 Free PMC article.

9

Identification of the genetic defect in the original Wagner syndrome family.

Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W. Kloeckener-Gruissem B, et al. Mol Vis. 2006 Apr 17;12:350-5. Mol Vis. 2006. PMID: 16636652 Free article.

10

Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4.

Luhmann UF, Neidhardt J, Kloeckener-Gruissem B, Schäfer NF, Glaus E, Feil S, Berger W. Luhmann UF, et al. Eur J Neurosci. 2008 May;27(10):2619-28. doi: 10.1111/j.1460-9568.2008.06237.x. Eur J Neurosci. 2008. PMID: 18547247 Free article.

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