Items where Author is "Ransijn, Adriana"

2011

Tanackovic, Goranka and Ransijn, Adriana and Ayuso, Carmen and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2011) A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics, 88 (5). pp. 643-649.

Tanackovic, Goranka and Ransijn, Adriana and Thibault, Philippe and Abou Elela, Sherif and Klinck, Roscoe and Berson, Eliot L. and Chabot, Benoit and Rivolta, Carlo. (2011) PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Human Molecular Genetics, 20 (11). pp. 2116-2130.

2008

Rio 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.