Isabelle Audo

Summary

Country: France

Publications

  1. ncbi [Ocular toxicity of drugs]
    Isabelle Audo
    Département de génétique, Centre de Recherche Institut de la Vision, UMR S 968 Inserm, UMR 7210, Universite Pierre et Marie Curie Paris 6, France
    Rev Prat 63:63-7. 2013
  2. pmc Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
    Isabelle Audo
    INSERM, U968, Paris, F 75012, France
    Orphanet J Rare Dis 7:8. 2012
  3. doi Retinal and cochlear toxicity of drugs: new insights into mechanisms and detection
    Isabelle Audo
    INSERM, U968, Paris, France
    Curr Opin Neurol 25:76-85. 2012
  4. doi RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation
    Isabelle Audo
    INSERM, UMRS968, Paris, F 75012, France
    Hum Mutat 33:73-80. 2012
  5. pmc A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family
    Isabelle Audo
    INSERM, U968, Paris, France
    Mol Vis 17:1598-606. 2011
  6. doi Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort
    Isabelle Audo
    INSERM, U968, Paris, F 75012, France
    Hum Mutat 32:E2091-103. 2011
  7. ncbi An unusual retinal phenotype associated with a novel mutation in RHO
    Isabelle Audo
    Institut National de la Sante et de la Recherche Medicale, Paris, France
    Arch Ophthalmol 128:1036-45. 2010
  8. pmc Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients
    Isabelle Audo
    INSERM, U968, Paris, France
    Invest Ophthalmol Vis Sci 51:3687-700. 2010
  9. pmc CRB1 mutations in inherited retinal dystrophies
    Kinga Bujakowska
    INSERM, U968, Paris, France
    Hum Mutat 33:306-15. 2012
  10. pmc Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
    Isabelle Audo
    INSERM, UMRS968, Paris, F 75012, France
    BMC Med Genet 11:145. 2010

Detail Information

Publications26

  1. ncbi [Ocular toxicity of drugs]
    Isabelle Audo
    Département de génétique, Centre de Recherche Institut de la Vision, UMR S 968 Inserm, UMR 7210, Universite Pierre et Marie Curie Paris 6, France
    Rev Prat 63:63-7. 2013
    ....
  2. pmc Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
    Isabelle Audo
    INSERM, U968, Paris, F 75012, France
    Orphanet J Rare Dis 7:8. 2012
    ..However, these methods are time consuming, expensive and unable to provide a result if the patient carries a new gene mutation. In addition, multiplicity of phenotypes associated with the same gene defect may be overlooked...
  3. doi Retinal and cochlear toxicity of drugs: new insights into mechanisms and detection
    Isabelle Audo
    INSERM, U968, Paris, France
    Curr Opin Neurol 25:76-85. 2012
    ....
  4. doi RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation
    Isabelle Audo
    INSERM, UMRS968, Paris, F 75012, France
    Hum Mutat 33:73-80. 2012
    ..Variable penetrance of the disease was observed in our and other cohorts. Most patients with RP1 mutations show classical signs of RP with relatively preserved central vision and visual field...
  5. pmc A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family
    Isabelle Audo
    INSERM, U968, Paris, France
    Mol Vis 17:1598-606. 2011
    ..To identify the genetic defect of a consanguineous Portuguese family with rod-cone dystrophy and varying degrees of decreased audition...
  6. doi Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort
    Isabelle Audo
    INSERM, U968, Paris, F 75012, France
    Hum Mutat 32:E2091-103. 2011
    ..To our knowledge, our study provides the first large scale screening of C2orf71 in a French arRP cohort through direct sequencing and suggests that it would account for approximately 1% of arRP cases...
  7. ncbi An unusual retinal phenotype associated with a novel mutation in RHO
    Isabelle Audo
    Institut National de la Sante et de la Recherche Medicale, Paris, France
    Arch Ophthalmol 128:1036-45. 2010
    ..To report a new genetic variant in the rhodopsin gene (RHO) associated with an unusual autosomal dominant retinal phenotype...
  8. pmc Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients
    Isabelle Audo
    INSERM, U968, Paris, France
    Invest Ophthalmol Vis Sci 51:3687-700. 2010
    ..For genetic diagnosis, genomic DNA of 79 families was isolated by standard..
  9. pmc CRB1 mutations in inherited retinal dystrophies
    Kinga Bujakowska
    INSERM, U968, Paris, France
    Hum Mutat 33:306-15. 2012
    ..This meta-analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination...
  10. pmc Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
    Isabelle Audo
    INSERM, UMRS968, Paris, F 75012, France
    BMC Med Genet 11:145. 2010
    ....
  11. ncbi The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family
    Isabelle Audo
    INSERM, U968, Paris F 75012, France
    Hum Mol Genet 23:491-501. 2014
    ..These findings should better define pathogenic mechanism(s) associated with ITM2B mutations underlying dementia or retinal disease and add a new candidate to the list of genes involved in inherited retinal dystrophies...
  12. doi EYS is a major gene for rod-cone dystrophies in France
    Isabelle Audo
    INSERM U968, Department of Genetics, Institut de la Vision, UPMC Univ Paris 06, 17 rue Moreau, Paris, France
    Hum Mutat 31:E1406-35. 2010
    ..With a prevalence of 12% or more we provide evidence that EYS is a major gene for RP in France and probably elsewhere...
  13. pmc Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
    Christina Zeitz
    Unité Mixte de Recherche S968, Institut National de la Sante et de la Recherche Medicale, F 75012 Paris, France
    Am J Hum Genet 92:67-75. 2013
    ..The exact role of this LRR protein in cCSNB remains to be elucidated...
  14. pmc Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
    Isabelle Audo
    Institut National de la Sante et de la Recherche Medicale, Paris, France
    Am J Hum Genet 90:321-30. 2012
    ..Interestingly, Gpr179 was highly concentrated in horizontal cells and Müller cell endfeet. The involvement of these cells in cCSNB and the specific function of GPR179 remain to be elucidated...
  15. pmc Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy
    Said El Shamieh
    Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Centre National de la Recherche Scientifique UMR_7210, Paris 75012, France Institut de la Vision UMR_S 968, Universite Pierre et Marie Curie Paris 6, Sorbonne Universités, Paris 75012, France
    Am J Hum Genet 94:625-33. 2014
    ..Immunohistology revealed KIZ localization at the basal body of the cilia in human fibroblasts, thus shedding light on another ciliary protein implicated in autosomal-recessive RCD. ..
  16. pmc Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)
    Marion Neuillé
    INSERM, U968, Paris, France CNRS, UMR_7210, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris, France
    PLoS ONE 9:e90342. 2014
    ..This novel mouse model will be useful for investigating the pathogenic mechanism(s) associated with LRIT3 mutations and clarifying the role of LRIT3 in the ON-bipolar cell signaling cascade. ..
  17. doi Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness
    Elise Orhan
    Institut National de la Sante et de la Recherche Medicale INSERM, U968, Paris, France
    Invest Ophthalmol Vis Sci 54:8041-50. 2013
    ..This study further defined the exact site of Gpr179 expression and its protein localization in human retina and elucidated the pathogenic mechanism of the reported missense and splice site mutations...
  18. ncbi Phenotypic variation in enhanced S-cone syndrome
    Isabelle Audo
    Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, United Kingdom
    Invest Ophthalmol Vis Sci 49:2082-93. 2008
    ..To characterize the clinical, psychophysical, and electrophysiological phenotype of 19 patients with enhanced S-cone syndrome (ESCS) and relate the phenotype to the underlying genetic mutation...
  19. ncbi Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
    Isabelle Audo
    Laboratoire de Physiopathologie Cellulaire Moléculaire et de la Rétine, Institut National de la Sante et de la Recherche Medicale, Universite Pierre et Marie Curie, Paris, France
    Invest Ophthalmol Vis Sci 48:4250-6. 2007
    ..The purpose of this study was the objective assessment of macular and generalized retinal function in unrelated patients with clinical and/or genetic features of PXE...
  20. pmc TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
    Isabelle Audo
    INSERM, UMR_S968, F 75012, Paris, France
    Am J Hum Genet 85:720-9. 2009
    ..The mutation spectrum comprises missense, splice-site, deletion, and nonsense mutations. We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells...
  21. doi Functional and high resolution retinal imaging assessment in a case of ocular siderosis
    Céline Faure
    Fondation Ophtalmologique Adolphe de Rothschild, 25 rue Manin, 75019, Paris, France
    Doc Ophthalmol 128:69-75. 2014
    ..To report new findings in a case of ocular siderosis explored by high resolution angiography and adaptive optics (AO)...
  22. ncbi The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction
    Isabelle Audo
    Moorfields Eye Hospital, London, United Kingdom
    Surv Ophthalmol 53:16-40. 2008
    ..This review summarizes current knowledge on normal retinal physiology, the investigative techniques used and the range of clinical disorders in which there is predominantly inner retinal dysfunction...
  23. ncbi Genotyping microarray for CSNB-associated genes
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Invest Ophthalmol Vis Sci 50:5919-26. 2009
    ....
  24. doi Evaluation of retinal function and flicker light-induced retinal vascular response in normotensive patients with diabetes without retinopathy
    Amelie Lecleire-Collet
    Departments of Ophthalmology, Hopital Fernand Widal, Assistance Publique Hopitaux de Paris, Paris 7 University, Paris, France
    Invest Ophthalmol Vis Sci 52:2861-7. 2011
    ..To correlate retinal function with vascular response to flicker light in normotensive patients with diabetes without diabetic retinopathy (DR)...
  25. doi Foveal damage in habitual poppers users
    Isabelle Audo
    Clinical Investigation Center 503 of Quinze Vingts Hospital, Université Pierre et Marie Curie Paris, Paris, France
    Arch Ophthalmol 129:703-8. 2011
    ..To describe foveal damage in habitual use of poppers, a popular recreational drug...
  26. pmc Mutations in IMPG1 cause vitelliform macular dystrophies
    Gaël Manes
    INSERM U1051, Institute for Neurosciences of Montpellier, Universite Montpellier 1, Montpellier, France
    Am J Hum Genet 93:571-8. 2013
    ..We conclude that IMPG1 mutations cause both autosomal-dominant and -recessive forms of VMD, thus indicating that impairment of the interphotoreceptor matrix might be a general cause of VMD. ..