Anne Francoise Roux

Summary

Country: France

Publications

  1. pmc The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
    Gema García-García
    INSERM, U827, Montpellier F 34000, France
    Mol Vis 19:367-73. 2013
  2. pmc Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
    Heather B Steele-Stallard
    UCL Institute of Child Health, London, UK
    Orphanet J Rare Dis 8:122. 2013
  3. doi Four-year follow-up of diagnostic service in USH1 patients
    Anne Francoise Roux
    Laboratoire de Genetique Moleculaire, Montpellier, France
    Invest Ophthalmol Vis Sci 52:4063-71. 2011
  4. ncbi Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
    Christel Vache
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 31:734-41. 2010
  5. doi UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes
    David Baux
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, F 34000, France
    Hum Mutat 29:E76-87. 2008
  6. doi Non-USH2A mutations in USH2 patients
    Thomas Besnard
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 33:504-10. 2012
  7. doi Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy
    Christel Vache
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 33:104-8. 2012
  8. doi Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
    Sandie Le Guédard-Méreuze
    Universite Montpellier 1, UFR Medecine, Montpellier, France
    Hum Mutat 31:347-55. 2010
  9. doi Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management
    Beatrice Bocquet
    CHRU Montpellier, Genetics of Sensory Diseases, Montpellier, France
    Ophthalmic Epidemiol 20:13-25. 2013
  10. ncbi A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
    Nathalie Pallares-Ruiz
    Laboratoire de Genetique Moleculaire, 34093 Montpellier Cedex, France
    Eur J Hum Genet 10:72-6. 2002

Collaborators

Detail Information

Publications17

  1. pmc The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
    Gema García-García
    INSERM, U827, Montpellier F 34000, France
    Mol Vis 19:367-73. 2013
    ..The aim of this work was to determine the contribution of GPR98 and DFNB31 genes in a Spanish cohort of USH2A negative patients using exhaustive molecular analysis, including sequencing, dosage, and splicing analysis...
  2. pmc Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
    Heather B Steele-Stallard
    UCL Institute of Child Health, London, UK
    Orphanet J Rare Dis 8:122. 2013
    ..The purpose of this study was to improve the molecular diagnosis in these families by screening USH2A for duplications, heterozygous deletions and a common pathogenic deep intronic variant USH2A: c.7595-2144A>G...
  3. doi Four-year follow-up of diagnostic service in USH1 patients
    Anne Francoise Roux
    Laboratoire de Genetique Moleculaire, Montpellier, France
    Invest Ophthalmol Vis Sci 52:4063-71. 2011
    ..The purpose of this study was to establish the mutation spectrum of an Usher type I cohort of 61 patients from France and to describe a diagnostic strategy, including a strategy for estimating the pathogenicity of sequence changes...
  4. ncbi Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
    Christel Vache
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 31:734-41. 2010
    ..This shows that mRNA analysis by this method will help in assessing the pathogenic effect of variants, which is a major problem in the molecular diagnosis of Usher syndrome...
  5. doi UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes
    David Baux
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, F 34000, France
    Hum Mutat 29:E76-87. 2008
    ..These databases should assist clinicians and geneticists seeking information about mutations responsible for Usher syndrome...
  6. doi Non-USH2A mutations in USH2 patients
    Thomas Besnard
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 33:504-10. 2012
    ..In effect, these three genes account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis...
  7. doi Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy
    Christel Vache
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 33:104-8. 2012
    ..Finally, this mutation, which would not have been found by whole-exome sequencing, could offer, for the first time in USH, the possibility of therapeutic correction by antisense oligonucleotides (AONs)...
  8. doi Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
    Sandie Le Guédard-Méreuze
    Universite Montpellier 1, UFR Medecine, Montpellier, France
    Hum Mutat 31:347-55. 2010
    ..His133Tyr), c.3502C>T (p.Arg1168Trp) (MYO7A). Our data provide insights into the contribution of splicing mutations in Usher genes and illustrate the need to define accurately their splicing outcome for diagnostic purposes...
  9. doi Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management
    Beatrice Bocquet
    CHRU Montpellier, Genetics of Sensory Diseases, Montpellier, France
    Ophthalmic Epidemiol 20:13-25. 2013
    ..Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern France...
  10. ncbi A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
    Nathalie Pallares-Ruiz
    Laboratoire de Genetique Moleculaire, 34093 Montpellier Cedex, France
    Eur J Hum Genet 10:72-6. 2002
    ..We show that homozygous deletion of a minimal 150 kb region encompassing this gene causes NSHL. More strikingly, association of this deletion in trans of the GJB2 gene 35delG or E47X mutations is also associated with NSHL...
  11. ncbi Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
    David Baux
    Centre Hospitalier Universitaire CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 28:781-9. 2007
    ..We have identified a previously unrecognized cysteine rich structural domain, containing 12 dicysteine repeats, and show that three missense mutations result in the loss of one of a pair of the defining cysteine-cysteine pairs...
  12. pmc Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome
    Sandie Le Guédard
    Laboratoire de Génétique Moléculaire du CHU de Montpellier, Institut Universitaire de Recherche Clinique, Montpellier, France
    Mol Vis 13:102-7. 2007
    ..When PCDH15 was systematically analyzed for mutations in a cohort of USH1 patients, a number of deletions were found. Here we characterize these deletions as to extent, position, and breakpoints...
  13. pmc Molecular epidemiology of DFNB1 deafness in France
    Anne Francoise Roux
    Laboratoire de Genetique Moleculaire, CHU Montpellier, IURC, Montpellier, France
    BMC Med Genet 5:5. 2004
    ..We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants...
  14. doi A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene
    Caroline Raynal
    CHU Montpellier, Hopital Arnaud de Villeneuve, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 34:774-84. 2013
    ..We provide in this study a high-performance method that can play a full role in interpreting the results of molecular diagnosis in emergency context, when functional studies are not achievable...
  15. doi Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains
    Philippe Khau Van Kien
    CHU Montpellier, Hopital Arnaud de Villeneuve, Laboratoire de Genetique Moleculaire, Montpellier, F 34000 France
    Hum Mutat 31:E1021-42. 2010
    ..Our data compared with those of the literature strongly suggest the existence of a cb-EGF domain subtype with implications for related diseases...
  16. doi Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites
    Sandie Le Guédard-Méreuze
    INSERM, U827, Montpellier, France
    Hum Mutat 30:1329-39. 2009
    ..Overall, our findings establish general properties useful to molecular geneticists to identify nucleotide substitutions at position +3 that are more likely to alter splicing...