| People | Locations | Statistics |
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| Naji, M. |
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| Motta, Antonella |
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| Aletan, Dirar |
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| Mohamed, Tarek |
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| Ertürk, Emre |
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| Taccardi, Nicola |
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| Kononenko, Denys |
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| Petrov, R. H. | Madrid |
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| Alshaaer, Mazen | Brussels |
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| Bih, L. |
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| Casati, R. |
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| Muller, Hermance |
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| Kočí, Jan | Prague |
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| Šuljagić, Marija |
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| Kalteremidou, Kalliopi-Artemi | Brussels |
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| Azam, Siraj |
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| Ospanova, Alyiya |
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| Blanpain, Bart |
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| Ali, M. A. |
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| Popa, V. |
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| Rančić, M. |
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| Ollier, Nadège |
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| Azevedo, Nuno Monteiro |
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| Landes, Michael |
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| Rignanese, Gian-Marco |
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Martin, Daniel
University Hospitals Plymouth NHS Trust
in Cooperation with on an Cooperation-Score of 37%
Topics
Publications (4/4 displayed)
- 2022Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
- 2022High-frequency contactless sensor for the detection of heparin-induced thrombocytopenia antibodies via platelet aggregationcitations
- 2010Design and conduct of Caudwell Xtreme Everest: an observational cohort study of variation in human adaptation to progressive environmental hypoxiacitations
- 2009Sustained activation of XBP1 splicing leads to endothelial apoptosis and atherosclerosis development in response to disturbed flowcitations
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document
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
Abstract
<jats:title>Abstract</jats:title><jats:p><jats:bold>Background:</jats:bold> To conduct the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describe the comprehensive genetic profile of a large cohort of patients. <jats:bold>Methods:</jats:bold> This is a retrospective study analyzing medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. <jats:bold>Results:</jats:bold><jats:italic> </jats:italic>773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 377 (59%) patients. <jats:italic>USH2A</jats:italic>, <jats:italic>RPGR</jats:italic>, and <jats:italic>ABCA4</jats:italic> were the most common disease-associated genes. <jats:italic>USH2A</jats:italic>was the most frequent gene to cause RP, <jats:italic>RDH12</jats:italic> early onset severe retinal dystrophy, <jats:italic>ABCA4</jats:italic> Stargardt disease, <jats:italic>PROM1</jats:italic> cone-rod dystrophy, and <jats:italic>BEST1</jats:italic> macular dystrophy. The most frequent variants were <jats:italic>RPGR</jats:italic>c.1345C>T, p.(Arg449*) and <jats:italic>USH2A </jats:italic>c.15089C>A, p.(Ser5030*). The study revealed 159/448 (35%) previously unreported pathogenic/likely pathogenic variants and 5 likely founder mutations. <jats:bold>Conclusions:</jats:bold><jats:italic> </jats:italic>We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counselling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region.</jats:p>