Affiliation: Institut de Recherche en Ophtalmologie
- Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patientsLeila Tiab
IRO Institut de Recherche en Ophtalmologie, Sion, Switzerland
Ophthalmic Genet 25:241-6. 2004..CFEOM1 maps to the FEOM1 locus on chromosome 12 and is the consequence of mutations in the KIF21A gene. We analyzed three families and one sporadic case for potential genetic heterogeneity...
- IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencingDaniel F Schorderet
IRO, Institute for Research in Ophthalmology, 64 Avenue du Grand Champsec, 1950, Sion, Switzerland
Adv Exp Med Biol 801:171-6. 2014..As a drop in the costs of HT sequencing is anticipated, target resequencing might become the new gold standard in the molecular diagnosis of RD. ..
- A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosaLeila Tiab
Institute for Research in Ophthalmology, IRO, Sion, Switzerland
Mol Vis 19:829-34. 2013..It has been associated with mutations in different genes, including CRB1 (crumbs homolog 1). The aim of this study was to determine the causative gene in a Tunisian patient with arRP born to non-consanguineous parents...
- Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same familyPascal Escher
Institut de Recherche en Ophtalmologie, Sion, Switzerland
Hum Mutat 30:342-51. 2009..R311Q mutation. Finally, the functional dominance of the p.R311Q variant to the p.G56R mutation is discussed...
- Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophyShouling Li
Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, MD, USA
Am J Hum Genet 77:54-63. 2005..The histological and clinical characteristics of patients with CFD are consistent with biochemical studies of PIP5K3 that indicate a role in endosomal sorting...
- Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndromeDaniel F Schorderet
Institut de Recherche en Ophtalmologie, 1950 Sion, Switzerland
Am J Hum Genet 82:1178-84. 2008..Morpholino knockdown expression of the zebrafish nkx5-3 induced microphthalmia and disorganization of the developing retina, thus confirming that this gene represents an additional member implicated in axial patterning of the retina...