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Institut für Medizinische Molekulargenetik

Publications 2006

  • Bahadori R, Biehlmaier O, Zeitz C, Labhart T, Makhankov YV, Forster U, Gesemann M, Berger W, Neuhauss SC (2006) Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. Eur J Neurosci 24:1664-1674
  • Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Matyas G (2006) Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clin Genet 69:319-326
  • Baumgartner C, Matyas G, Steinmann B, Eberle M, Stein JI, Baumgartner D (2006) A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. J Biomed Inform 39:171-183
  • Baumgartner D, Baumgartner C, Schermer E, Engl G, Schweigmann U, Matyas G, Steinmann B, Stein JI (2006) Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study.  J Thorac Cardiovasc Surg 132:811-819
  • Biebinger R, Arnold M, Koss M, Kloeckener-Gruissem B, Langhans W, Hurrell RF, Zimmermann MB (2006) Effect of concurrent vitamin a and iodine deficiencies on the thyroid-pituitary axis in rats. Thyroid 16:961-965
  • Imboden M, Nicod L, Nieters A, Glaus E, Matyas G, Bircher AJ, Ackermann-Liebrich U, Berger W, Probst-Hensch NM (2006) The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study. Clin Exp Allergy 36:211-218
  • Imboden M, Nieters A, Bircher A, Brutsche M, Becker N, Wjst M, Ackermann-Liebrich U, Berger W, Probst-Hensch N (2006) Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Clin Mol Allergy 4:9
  • Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W (2006) Identification of the genetic defect in the original Wagner syndrome family. Mol Vis 12:350-355
  • Kurz DJ, Kloeckener-Gruissem B, Akhmedov A, Eberli FR, Buhler I, Berger W, Bertel O, Luscher TF (2006) Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arterioscler Thromb Vasc Biol 26:e114-e117
  • Matyas G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B (2006) Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat 27:760-769
  • Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W (2006) Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Invest Ophthalmol Vis Sci 47:1630-1635
  • Wollmann G, Lenzner S, Berger W, Rosenthal R, Karl MO, Strauss O (2006) Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice. Vision Res 46:688-698
  • Wycisk KA, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J, Glaus E, Nurnberg P, Ruether K, Berger W (2006) Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Invest Ophthalmol Vis Sci 47:3523-3530
  • Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W (2006) Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet 79:973-977
  • Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Matyas G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W (2006) Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet 79:657-667

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