Marques JP - Search Results

1

GenEye24: Novel rapid screening test for the top-3 Leber's Hereditary Optic Neuropathy pathogenic sequence variants.

Martins S, Santos MJ, Teixeira M, Diogo L, do Carmo Macário M, Marques JP, Fonseca P, Grazina M. Martins S, et al. Among authors: marques jp. Mitochondrion. 2023 Mar;69:64-70. doi: 10.1016/j.mito.2023.01.006. Epub 2023 Jan 28. Mitochondrion. 2023. PMID: 36716943 Free article.

2

Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT.

Marques JP, Carvalho AL, Henriques J, Murta JN, Saraiva J, Silva R. Marques JP, et al. Orphanet J Rare Dis. 2020 Oct 27;15(1):304. doi: 10.1186/s13023-020-01591-6. Orphanet J Rare Dis. 2020. PMID: 33109251 Free PMC article.

3

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.

4

RPGR-Associated Cone-Rod Degeneration and Tapetal-Like Reflex in a Male Patient.

Cortinhal T, Marques JP. Cortinhal T, et al. Among authors: marques jp. Ophthalmol Retina. 2023 Nov;7(11):1016. doi: 10.1016/j.oret.2023.07.002. Epub 2023 Jul 27. Ophthalmol Retina. 2023. PMID: 37498269 No abstract available.

5

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 No abstract available.

6

Double Concentric Hyperautofluorescent Ring in EYS-Associated Retinitis Pigmentosa.

Marques JP, Simaõ J. Marques JP, et al. Asia Pac J Ophthalmol (Phila). 2023 Jan-Feb 01;12(1):105. doi: 10.1097/APO.0000000000000473. Epub 2022 Aug 18. Asia Pac J Ophthalmol (Phila). 2023. PMID: 35131995 Free article. No abstract available.

7

Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population.

Marques JP, Machado Soares R, Simão S, Abuzaitoun R, Andrews C, Alves CH, Ambrósio AF, Murta J, Silva R, Abalem MF, Jayasundera KT. Marques JP, et al. Ophthalmic Genet. 2023 Aug;44(4):334-340. doi: 10.1080/13816810.2023.2191708. Epub 2023 Mar 22. Ophthalmic Genet. 2023. PMID: 36946380

8

Polypoidal Choroidal Vasculopathy in Caucasians: Morphological Findings from Multimodal Retinal Imaging.

Simão JM, Farinha CV, Marques JP, Nunes S, Pires IM, Cachulo ML, Figueira JP, Murta JN, Silva RM. Simão JM, et al. Among authors: marques jp. Ophthalmologica. 2021;244(4):315-325. doi: 10.1159/000515295. Epub 2021 Feb 17. Ophthalmologica. 2021. PMID: 33596579

9

Multimodal Imaging of Cytomegalovirus-associated Frosted Branch Angiitis.

Rodrigues TM, Marques JP, Fonseca C. Rodrigues TM, et al. Among authors: marques jp. Ophthalmol Retina. 2018 Jan;2(1):37. doi: 10.1016/j.oret.2017.09.009. Epub 2018 Jan 3. Ophthalmol Retina. 2018. PMID: 31047299 No abstract available.

10

Multimodal Imaging in Hypotrichosis with Juvenile Macular Degeneration.

Marques JP, Geada S. Marques JP, et al. Ophthalmol Retina. 2021 Jun;5(6):593. doi: 10.1016/j.oret.2021.02.014. Ophthalmol Retina. 2021. PMID: 34099227 No abstract available.

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