João Pedro Cadilhe Marques
AuthID: R-000-7D4
1
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; ...More
PUBLISHED: 2024, SOURCE: CLINICAL GENETICS
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; ...More
PUBLISHED: 2024, SOURCE: CLINICAL GENETICS
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
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; ...More
PUBLISHED: 2024, SOURCE: SCIENTIFIC REPORTS, VOLUME: 14, ISSUE: 1
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; ...More
PUBLISHED: 2024, SOURCE: SCIENTIFIC REPORTS, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Hyperreflective ganglion cell layer band in a large cohort of non-syndromic retinitis pigmentosa: Frequency and clinical correlations Full Text
AUTHORS: Dias, Margarida Q.; Gouveia, Nuno; Franca, Maria; Murta, Joaquim; Silva, Rufino; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: ACTA OPHTHALMOLOGICA
AUTHORS: Dias, Margarida Q.; Gouveia, Nuno; Franca, Maria; Murta, Joaquim; Silva, Rufino; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: ACTA OPHTHALMOLOGICA
4
TITLE: Clinical and Histopathologic Findings in Jalili Syndrome
AUTHORS: Maria Franca; Joana Providência; Guilherme Castela; Daniela Patrício; Inês Santos Sousa; António Francisco Ambrósio; Celso Henrique Alves; João Pedro Marques;
PUBLISHED: 2024, SOURCE: Ophthalmology Retina
AUTHORS: Maria Franca; Joana Providência; Guilherme Castela; Daniela Patrício; Inês Santos Sousa; António Francisco Ambrósio; Celso Henrique Alves; João Pedro Marques;
PUBLISHED: 2024, SOURCE: Ophthalmology Retina
INDEXED IN: Scopus 
CrossRef
Scopus CrossRef5
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
AUTHORS: Marques, Joao Pedro; Simao, Jorge;
PUBLISHED: 2023, SOURCE: ASIA-PACIFIC JOURNAL OF OPHTHALMOLOGY, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS6
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
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
Scopus WOS7
TITLE: Eyes Shut Homolog-Associated Retinal Degeneration Natural History, Genetic Landscape, and Phenotypic Spectrum
AUTHORS: Soares, Ricardo Machado; Carvalho, Ana Luisa; Simao, Silvia; Soares, Celia Azevedo ; Raimundo, Miguel; Alves, C. Henrique; Ambrosio, Antonio Francisco; Murta, Joaquim; Saraiva, Jorge; Silva, Rufino; Marques, Joao Pedro;
PUBLISHED: 2023, SOURCE: OPHTHALMOLOGY RETINA, VOLUME: 7, ISSUE: 7
AUTHORS: Soares, Ricardo Machado; Carvalho, Ana Luisa; Simao, Silvia; Soares, Celia Azevedo ; Raimundo, Miguel; Alves, C. Henrique; Ambrosio, Antonio Francisco; Murta, Joaquim; Saraiva, Jorge; Silva, Rufino; Marques, Joao Pedro;
PUBLISHED: 2023, SOURCE: OPHTHALMOLOGY RETINA, VOLUME: 7, ISSUE: 7
INDEXED IN: Scopus WOS
Scopus WOS8
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
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
Scopus WOS9
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
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
Scopus WOS10
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
AUTHORS: Telmo Cortinhal; João Pedro Marques;
PUBLISHED: 2023, SOURCE: Ophthalmology Retina
INDEXED IN: Scopus
Scopus