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TITLE: Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants  Full Text
AUTHORS: Bauwens, Miriam; De Man, Vincent; Audo, Isabelle; Balikova, Irina; Zein, Wadih M.; Smirnov, Vasily; Held, Sebastian; Vermeer, Sascha; Loos, Elke; Jacob, Julie; Casteels, Ingele; Desir, Julie; Depasse, Fanny; Van de Sompele, Stijn; Van Heetvelde, Mattias; De Bruyne, Marieke; Andrieu, Camille; Condroyer, Christel; Antonio, Aline; Hufnagel, Robert; Carvalho, Ana Luisa; Marques, Joao Pedro; Zeitz, Christina; De Baere, Elfride; Damme, Markus; ...More
PUBLISHED: 2024, SOURCE: CLINICAL GENETICS
INDEXED IN: Scopus WOS
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TITLE: Current management of inherited retinal degenerations in Portugal (IRD-PT survey)  Full Text
AUTHORS: Marques, Joao Pedro; Ferreira, Nuno; Moreno, Natacha; Marta, Ana; Vaz Pereira, Sara; Estrela Silva, Sergio; Costa, Jose; Cardoso, Ana Rocha; Neves, Pedro; Duarte, Lilianne; Meira, Dalia; Pires, Joana; Menezes, Carlos; Rodrigues, Filipa; Arede, Pedro; Coutinho, Andre; Cabral, Diogo; Coutinho, Ines; Ribeiro, Miguel; Macedo, Marta; Brito, Sergio; Isidro, Filipe; Rodrigues, Filipa Gomes; Sousa, Joao Paulo Castro; Marques, Marco; Martins, Raquel; Silva, Eduardo; ...More
PUBLISHED: 2024, SOURCE: SCIENTIFIC REPORTS, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Double Concentric Hyperautofluorescent Ring in EYS-Associated Retinitis Pigmentosa
AUTHORS: Marques, Joao Pedro; Simao, Jorge;
PUBLISHED: 2023, SOURCE: ASIA-PACIFIC JOURNAL OF OPHTHALMOLOGY, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Bilateral functional worsening following voretigene neparvovec therapy  Full Text
AUTHORS: Neves, Emmanuel Rebelo; Carvalho, Ana Luisa; Mesquita, Teresa; Paiva, Catarina; Alfaiate, Mario; Figueira, Joao; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2023, SOURCE: EYE
INDEXED IN: Scopus WOS
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TITLE: Response to "Comment on the Article: Subretinal Bleb of Voretigene Neparvovec"
AUTHORS: Marques, Joao Pedro; Alfaiate, Mario; Figueira, Joao Pereira;
PUBLISHED: 2023, SOURCE: ASIA-PACIFIC JOURNAL OF OPHTHALMOLOGY, VOLUME: 12, ISSUE: 3
INDEXED IN: Scopus WOS
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TITLE: Idiopathic acute exudative polymorphous vitelliform maculopathy: the importance of multimodal imaging, systemic workup and genetic testing
AUTHORS: Fernandes, Joana Silva; Gomes, Pedro Prata; Neves, Pedro; Marques, Joao Pedro;
PUBLISHED: 2023, SOURCE: BMJ CASE REPORTS, VOLUME: 16, ISSUE: 6
INDEXED IN: Scopus WOS
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TITLE: RPGR-Associated Cone-Rod Degeneration and Tapetal-Like Reflex in a Male Patient
AUTHORS: Telmo Cortinhal; João Pedro Marques;
PUBLISHED: 2023, SOURCE: Ophthalmology Retina
INDEXED IN: Scopus
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