Nizar Smaoui

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family
    Myriam Chaabouni
    Laboratoire de génétique humaine faculté de médecine de Tunis et service maladies héréditaires hôpital Charles Nicolle, Tunis
    Clin Dysmorphol 14:23-5. 2005
  2. ncbi request reprint Screening of the eight BBS genes in Tunisian families: no evidence of triallelism
    Nizar Smaoui
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 47:3487-95. 2006
  3. pmc Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis
    Leera D'Souza
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute NEI, National Institutes of Health NIH, Bethesda, MD
    Mol Vis 19:2209-16. 2013
  4. pmc High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy
    Jin Song
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 52:9053-60. 2011
  5. ncbi request reprint A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract
    Nizar Smaoui
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Invest Ophthalmol Vis Sci 45:2716-21. 2004
  6. pmc Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes
    Jianjun Chen
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20852, USA
    Invest Ophthalmol Vis Sci 52:5317-24. 2011
  7. ncbi request reprint Molecular genetics of cataract
    J Fielding Hejtmancik
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, USA
    Dev Ophthalmol 37:67-82. 2003
  8. pmc Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study
    Camasamudram Vijayasarathy
    Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 50:5375-83. 2009
  9. pmc Choroideremia: analysis of the retina from a female symptomatic carrier
    Vera L Bonilha
    The Cleveland Clinic Foundation, The Cole Eye Institute, Cleveland, Ohio 44195, USA
    Ophthalmic Genet 29:99-110. 2008
  10. ncbi request reprint MEFV mutations in Tunisian patients suffering from familial Mediterranean fever
    Habiba Bouhamed Chaabouni
    Faculte de Medicine, Laboratory of Human Genetics, 17 rue Jebel Lakhdar, Tunis 1007, Tunisia
    Semin Arthritis Rheum 36:397-401. 2007

Collaborators

Detail Information

Publications11

  1. ncbi request reprint Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family
    Myriam Chaabouni
    Laboratoire de génétique humaine faculté de médecine de Tunis et service maladies héréditaires hôpital Charles Nicolle, Tunis
    Clin Dysmorphol 14:23-5. 2005
    ..559G>A) predicted to result in a nonconservative substitution (E187 K) was present in the affected members but also in 2 controls, suggesting a polymorphism which functional role cannot be excluded without further study...
  2. ncbi request reprint Screening of the eight BBS genes in Tunisian families: no evidence of triallelism
    Nizar Smaoui
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 47:3487-95. 2006
    ..To study Bardet-Biedl syndrome (BBS) in the Tunisian population and determine the presence of triallelism in the eight identified BBS genes...
  3. pmc Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis
    Leera D'Souza
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute NEI, National Institutes of Health NIH, Bethesda, MD
    Mol Vis 19:2209-16. 2013
    ..Here, we characterize two novel full exonic deletions: one encompassing exon 1 and the other spanning exons 4-5 of the RS1 gene. We also report the clinical findings in these patients with XLRS with two different exonic deletions...
  4. pmc High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy
    Jin Song
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 52:9053-60. 2011
    ..This study was conducted to develop and apply a microarray-based, high-throughput resequencing system to detect sequence alterations in genes related to inherited RD...
  5. ncbi request reprint A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract
    Nizar Smaoui
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Invest Ophthalmol Vis Sci 45:2716-21. 2004
    ..To map the locus and identify the gene causing autosomal recessive congenital cataracts in a large consanguineous Tunisian family...
  6. pmc Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes
    Jianjun Chen
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20852, USA
    Invest Ophthalmol Vis Sci 52:5317-24. 2011
    ..The aim of our study was to define further the spectrum of BBS mutations in a cohort of 44 European-derived American, 8 Tunisian, 1 Arabic, and 2 Pakistani families (55 families in total) with BBS...
  7. ncbi request reprint Molecular genetics of cataract
    J Fielding Hejtmancik
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, USA
    Dev Ophthalmol 37:67-82. 2003
    ..In addition to clues provided by the study of congenital and childhood cataracts, new experimental approaches to age-related cataracts are beginning to provide insights into its genetic origins...
  8. pmc Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study
    Camasamudram Vijayasarathy
    Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 50:5375-83. 2009
    ..To explore the retinoschisin (RS1) protein biochemical phenotype from an RS1 exon-5 deletion/insertion frame-shift mutation in a family with X-linked retinoschisis (XLRS) and describe the clinical and electrophysiological features...
  9. pmc Choroideremia: analysis of the retina from a female symptomatic carrier
    Vera L Bonilha
    The Cleveland Clinic Foundation, The Cole Eye Institute, Cleveland, Ohio 44195, USA
    Ophthalmic Genet 29:99-110. 2008
    ..To define the retinal pathology in a 91 year-old affected matriarch of a three-generation choroideremia family with multiple manifesting carriers...
  10. ncbi request reprint MEFV mutations in Tunisian patients suffering from familial Mediterranean fever
    Habiba Bouhamed Chaabouni
    Faculte de Medicine, Laboratory of Human Genetics, 17 rue Jebel Lakhdar, Tunis 1007, Tunisia
    Semin Arthritis Rheum 36:397-401. 2007
    ..To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations in Tunisian patients...
  11. pmc Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE)
    Brian P Brooks
    Arch Ophthalmol 126:424-5. 2008