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Institut für Medizinische Molekulargenetik

Publications 2017

  • Beck S, Feng Y, Sothilingam V, Garcia Garrido M, Tanimoto N, Acar N, Seebauer B, Berger W, Hammes HP, Seeliger M (2017) Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease. PLoS ONE 12:e0178753
  • Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L,  Magyar I, Koller S, Azzarello-Burri S,  Niedrist D, Heon E, Berger W (2017) C2orf71 mutations as a frequent cause of autosomal-recessive retinitis pigmentosa: clinical analysis and presentation of 8 novel mutations. Invest Ophthalmol Vis Sci 58:3840-3850
  • Gerth-Kahlert G, Tiwari A, Hauri M, Hanson JVM, Bahr A, Palmowski-Wolfe A, Güngör T, Berger W (2017) Unusual retinopathy in a child with severe combined immuno deficiency. Ophthalmic Genet 39:92-94
  • Holst S, Müller T, Valomon A, Seebauer B, Berger W, Landolt HP (2017) Functional polymorphisms in dopaminergic genes modulate neurobehavioral and neurophysiological consequences of sleep deprivation. Sci Rep 7:45982
  • Medeiros-Domingo A, Saguner AM, Magyar I, Duru F, Bahr A, Akdis D, Brunckhorst C, Berger W (2016) Arrhythmogenic right ventricular cardiomyopathy versus dilated cardiomyopathy: Implications of next generation sequencing in appropriate diagnosis. Europace 19:1063-1069
  • Neubauer J, Lecca MR, Russo G, Bartsch C, Medeiros-Domingo A, Berger W, Haas C (2017) Post-mortem whole exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Eur J Hum Genet 25:404-409
  • Stäubli A, Fuhrer Y, Munier F, Schorderet D, Tiwari A, Verrey F, Heon E, Cheng CY, Wong TY, Berger W, Camargo S, Kloeckener-Gruissem B (2017) Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Hum Mol Genet 26:4203-4214
  • Urry E, Jetter A, Holst SC, Berger W, Spinas GA, Langhans W, Landolt HP (2017) A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake. J Psychopharmacol 31:233-242