Leila Tiab

Summary

Affiliation: Institut de Recherche en Ophtalmologie
Country: Switzerland

Publications

  1. ncbi Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients
    Leila Tiab
    IRO Institut de Recherche en Ophtalmologie, Sion, Switzerland
    Ophthalmic Genet 25:241-6. 2004
  2. ncbi IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing
    Daniel F Schorderet
    IRO, Institute for Research in Ophthalmology, 64 Avenue du Grand Champsec, 1950, Sion, Switzerland
    Adv Exp Med Biol 801:171-6. 2014
  3. pmc A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa
    Leila Tiab
    Institute for Research in Ophthalmology, IRO, Sion, Switzerland
    Mol Vis 19:829-34. 2013
  4. pmc Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
    Pascal Escher
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
    Hum Mutat 30:342-51. 2009
  5. pmc Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy
    Shouling Li
    Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, MD, USA
    Am J Hum Genet 77:54-63. 2005
  6. pmc Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
    Daniel F Schorderet
    Institut de Recherche en Ophtalmologie, 1950 Sion, Switzerland
    Am J Hum Genet 82:1178-84. 2008

Collaborators

  • Daniel F Schorderet
  • Francis L Munier
  • M A Meallet
  • Pascal Escher
  • Shouling Li
  • Joanna E Merriam
  • Nicolas Mermod
  • Masanori Hayashi
  • Tania Delarive
  • Rando Allikmets
  • Shiming Chen
  • Sylvain Bolay
  • Raphael Roduit
  • Chih Cheng Tsai
  • Jana Zernant
  • Peter Gouras
  • Richard K Forster
  • Benjamin Rubin
  • Leonidas Zografos
  • J Fielding Hejtmancik
  • Yuri Sergeev
  • Xiaodong Jiao
  • Janine Smith
  • Beatrice E Frueh

Detail Information

Publications6

  1. ncbi Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients
    Leila 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...
  2. ncbi IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing
    Daniel 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. ..
  3. pmc A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa
    Leila 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...
  4. pmc Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
    Pascal 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...
  5. pmc Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy
    Shouling 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...
  6. pmc Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
    Daniel 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...