João Pedro Cadilhe Marques
AuthID: R-000-7D4
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TITLE: Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies Full Text
AUTHORS: Marques, Joao Pedro; Soares, Celia Azevedo ; Carvalho, Ana Luisa; Estrela Silva, Sergio; Santos, Luisa Coutinho; Ramos, Lina; Silva, Eduardo;
PUBLISHED: 2025, SOURCE: CLINICAL GENETICS
AUTHORS: Marques, Joao Pedro; Soares, Celia Azevedo ; Carvalho, Ana Luisa; Estrela Silva, Sergio; Santos, Luisa Coutinho; Ramos, Lina; Silva, Eduardo;
PUBLISHED: 2025, SOURCE: CLINICAL GENETICS
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TITLE: Unraveling the genetic spectrum of inherited deaf-blindness in Portugal Full Text
AUTHORS: Machado, Telma; Cortinhal, Telmo; Carvalho, Ana Luisa; Teixeira Marques, Francisco; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 20, ISSUE: 1
AUTHORS: Machado, Telma; Cortinhal, Telmo; Carvalho, Ana Luisa; Teixeira Marques, Francisco; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 20, ISSUE: 1
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TITLE: Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute
AUTHORS: Calzetti, Giacomo; Schwarzwalder, Kerstin; Ottonelli, Giorgia; Kaminska, Karolina; Strauss, Rupert Wolfgang; De Baere, Elfride; Leroy, Bart P.; Audo, Isabelle; Zeitz, Christina; Cursiefen, Claus; Stingl, Katarina; Boon, Camiel J. F.; Marques, Joao Pedro; Santos, Cristina; Ayuso Garcia, Carmen; Escher, Pascal; Cordeiro, M. Francesca; D'Esposito, Fabiana; Charbel Issa, Peter; Lotery, Andrew; ...More
PUBLISHED: 2024, SOURCE: OPHTHALMIC RESEARCH, VOLUME: 67, ISSUE: 1
AUTHORS: Calzetti, Giacomo; Schwarzwalder, Kerstin; Ottonelli, Giorgia; Kaminska, Karolina; Strauss, Rupert Wolfgang; De Baere, Elfride; Leroy, Bart P.; Audo, Isabelle; Zeitz, Christina; Cursiefen, Claus; Stingl, Katarina; Boon, Camiel J. F.; Marques, Joao Pedro; Santos, Cristina; Ayuso Garcia, Carmen; Escher, Pascal; Cordeiro, M. Francesca; D'Esposito, Fabiana; Charbel Issa, Peter; Lotery, Andrew; ...More
PUBLISHED: 2024, SOURCE: OPHTHALMIC RESEARCH, VOLUME: 67, ISSUE: 1
INDEXED IN: 
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Scopus WOS4
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 WOS5
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 WOS6
TITLE: Expanding the mutational and phenotypical spectrum of FHONDA syndrome
AUTHORS: Teixeira, Bruno Magalhaes; Figueiredo, Ines; Raimundo, Miguel; Quental, Hugo; Carvalho, Ana Luisa; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF OPHTHALMOLOGY
AUTHORS: Teixeira, Bruno Magalhaes; Figueiredo, Ines; Raimundo, Miguel; Quental, Hugo; Carvalho, Ana Luisa; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF OPHTHALMOLOGY
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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
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TITLE: Self-reported visual function and in-depth swept-source optical coherence tomography features of cystoid macular edema in retinitis pigmentosa
AUTHORS: Costa, Celso; Nogueira, Carlos; Soares, Mario; Simao, Silvia; Melo, Pedro; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF RETINA AND VITREOUS, VOLUME: 10, ISSUE: 1
AUTHORS: Costa, Celso; Nogueira, Carlos; Soares, Mario; Simao, Silvia; Melo, Pedro; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF RETINA AND VITREOUS, VOLUME: 10, ISSUE: 1
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TITLE: Nutritional Genomics: Implications for Age-Related Macular Degeneration Full Text
AUTHORS: Figueiredo, Ines; Farinha, Claudia; Barreto, Patricia; Coimbra, Rita; Pereira, Pedro; Marques, Joao Pedro; Pires, Isabel; Cachulo, Maria Luz; Silva, Rufino;
PUBLISHED: 2024, SOURCE: NUTRIENTS, VOLUME: 16, ISSUE: 23
AUTHORS: Figueiredo, Ines; Farinha, Claudia; Barreto, Patricia; Coimbra, Rita; Pereira, Pedro; Marques, Joao Pedro; Pires, Isabel; Cachulo, Maria Luz; Silva, Rufino;
PUBLISHED: 2024, SOURCE: NUTRIENTS, VOLUME: 16, ISSUE: 23
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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
AUTHORS: Marques, Joao Pedro; Simao, Jorge;
PUBLISHED: 2023, SOURCE: ASIA-PACIFIC JOURNAL OF OPHTHALMOLOGY, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS