Leila Tiab

Summary

Affiliation: Institut de Recherche en Ophtalmologie
Country: Switzerland

Publications

  1. ncbi request reprint 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. 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
  3. 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
  4. 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

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

Detail Information

Publications4

  1. ncbi request reprint 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. 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...
  3. 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...
  4. 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...