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254 results

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Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
Bauwens M, De Man V, Audo I, Balikova I, Zein WM, Smirnov V, Held S, Vermeer S, Loos E, Jacob J, Casteels I, Désir J, Depasse F, Van de Sompele S, Van Heetvelde M, De Bruyne M, Andrieu C, Condroyer C, Antonio A, Hufnagel R, Carvalho AL, Marques JP, Zeitz C, De Baere E, Damme M. Bauwens M, et al. Among authors: marques jp. Clin Genet. 2025 Jan;107(1):44-55. doi: 10.1111/cge.14614. Epub 2024 Aug 28. Clin Genet. 2025. PMID: 39199020 Free PMC article.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. Black GC, et al. Among authors: marques jp. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. Orphanet J Rare Dis. 2021. PMID: 33743793 Free PMC article.
EYS-Associated Sector Retinitis Pigmentosa.
Marques JP, Porto FBO, Carvalho AL, Neves E, Chen R, Sampaio SAM, Murta J, Saraiva J, Silva R. Marques JP, et al. Graefes Arch Clin Exp Ophthalmol. 2022 Apr;260(4):1405-1413. doi: 10.1007/s00417-021-05411-w. Epub 2021 Sep 27. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 34568954
Bilateral functional worsening following voretigene neparvovec therapy.
Rebelo Neves E, Carvalho AL, Mesquita T, Paiva C, Alfaiate M, Figueira J, Murta J, Marques JP. Rebelo Neves E, et al. Among authors: marques jp. Eye (Lond). 2023 Sep;37(13):2828-2829. doi: 10.1038/s41433-023-02411-4. Epub 2023 Feb 17. Eye (Lond). 2023. PMID: 36801965 Free PMC article. No abstract available.
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
Geada S, Teixeira-Marques F, Teixeira B, Carvalho AL, Lousan N, Saraiva J, Murta J, Silva R, Zanlonghi X, Defoort-Dhellemmes S, Smirnov V, Dhaenens CM, Blanchet C, Meunier I, Marques JP. Geada S, et al. Among authors: marques jp. Genes (Basel). 2023 Mar 30;14(4):830. doi: 10.3390/genes14040830. Genes (Basel). 2023. PMID: 37107588 Free PMC article.
254 results