Items where Author is "Rio Frio, Thomas"
Number of items: 5. 2009Rio Frio, Thomas and McGee, Terri L. and Wade, Nicholas M. and Iseli, Christian and Beckmann, Jacques S. and Berson, Eliot L. and Rivolta, Carlo. (2009) A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. Human mutation, 30 (9). pp. 1340-1347. Rio Frio, Thomas and Panek, Sylwia and Iseli, Christian and Di Gioia, Silvio Alessandro and Kumar, Arun and Gal, Andreas and Rivolta, Carlo. (2009) Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa. Molecular vision, 15. pp. 2627-2633. 2008Rio Frio, Thomas and Wade, Nicholas M. and Ransijn, Adriana and Berson, Eliot L. and Beckmann, Jacques S. and Rivolta, Carlo. (2008) Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. Journal of Clinical Investigation, 118 (4). pp. 1519-1531. Rio Frio, Thomas and Civic, Natacha and Ransijn, Adriana and Beckmann, Jacques S. and Rivolta, Carlo. (2008) Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations. Human Molecular Genetics, 17 (20). pp. 3154-3165. 2006Rivolta, Carlo and McGee, Terri L. and Rio Frio, Thomas and Jensen, Roderick V. and Berson, Eliot L. and Dryja, Thaddeus P.. (2006) Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Human mutation, 27 (7). pp. 644-653. |
