Affiliation: National Institutes of Health
- Mutation analysis of TBX22 reveals new mutation in Tunisian CPX familyMyriam 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...
- Screening of the eight BBS genes in Tunisian families: no evidence of triallelismNizar 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...
- Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisisLeera 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...
- High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophyJin 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...
- A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataractNizar 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...
- Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genesJianjun 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...
- Molecular genetics of cataractJ 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...
- Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family studyCamasamudram 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...
- Choroideremia: analysis of the retina from a female symptomatic carrierVera 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...
- MEFV mutations in Tunisian patients suffering from familial Mediterranean feverHabiba 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...
- 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