Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Sara Geada"'
Autor:
Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres, Carolina Lemos, João Melo Beirão
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan suppo
Externí odkaz:
https://doaj.org/article/9875a6d3f0cd430c869ea987bc399996
Autor:
Sara Geada, Francisco Teixeira-Marques, Bruno Teixeira, Ana Luísa Carvalho, Nuno Lousan, Jorge Saraiva, Joaquim Murta, Rufino Silva, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Vasily Smirnov, Claire-Marie Dhaenens, Catherine Blanchet, Isabelle Meunier, João Pedro Marques
Publikováno v:
Genes; Volume 14; Issue 4; Pages: 830
CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3620920bea4e1a1f30a07e29f1814cc8
https://doi.org/10.3390/genes14040830
https://doi.org/10.3390/genes14040830
Autor:
Cláudia Farinha, Mário Luiz Gomes Soares, Sara Geada, Isabel Pires, João Bernardes, Maria Luz Cachulo, Dora Teixeira, João Pedro Marques, Rufino Silva
Publikováno v:
Graefe's Archive for Clinical and Experimental Ophthalmology. 259:873-882
To characterize morphological changes in the retina and to report the frequency and natural history of non-exudative macular neovascularization (MNV) in a cohort of pseudoxanthoma elasticum (PXE). A single-center, retrospective study was complemented
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625a5fbf244e29e5d9a32d3781e4d289
https://doi.org/10.1007/s00417-020-04979-z
https://doi.org/10.1007/s00417-020-04979-z
Autor:
João Pedro Marques, Emmanuel Neves, Sara Geada, Ana Luísa Carvalho, Joaquim Murta, Jorge Saraiva, Rufino Silva
Publikováno v:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 260(9)
Retinitis pigmentosa (RP) corresponds to a group of inherited retinal disorders where progressive rod-cone degeneration is observed. Cystoid macular edema (CME) and vitreomacular interface disorders (VMID) are known to complicate the RP phenotype, ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac37583d3f4635f63deec69a9ed0afa5
https://pubmed.ncbi.nlm.nih.gov/35389060
https://pubmed.ncbi.nlm.nih.gov/35389060
Autor:
Ana Luísa Carvalho, João Pedro Marques, Ana Marta, Sara Geada, Rufino Silva, Jorge M. Saraiva, Joaquim Murta, Pedro Menéres
Publikováno v:
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde. 245(2)
Introduction: The purpose of this study was to compare clinical/demographic functional testing and multimodal imaging features between genetically solved and genetically unsolved nonsyndromic retinitis pigmentosa (nsRP) patients. Methods: A cross-sec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2afa9e63d22e9aaf308c2f553673107
https://pubmed.ncbi.nlm.nih.gov/34695833
https://pubmed.ncbi.nlm.nih.gov/34695833
Autor:
João Pedro Marques, Sara Geada
Publikováno v:
Ophthalmology. Retina. 5(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb6f069213707e41b33d719a4337985
https://pubmed.ncbi.nlm.nih.gov/34099227
https://pubmed.ncbi.nlm.nih.gov/34099227
Autor:
Marta, Ana1,2 (AUTHOR) analuisamarta2@gmail.com, Marques, João Pedro3,4,5 (AUTHOR), Santos, Cristina6,7 (AUTHOR), Coutinho-Santos, Luísa6 (AUTHOR), Vaz-Pereira, Sara8,9 (AUTHOR), Costa, José10 (AUTHOR), Arede, Pedro11 (AUTHOR), Félix, Raquel3 (AUTHOR), Geada, Sara3 (AUTHOR), Gouveia, Nuno3 (AUTHOR), Silva, Rui10 (AUTHOR), Baptista, Margarida11 (AUTHOR), Lume, Miguel1 (AUTHOR), Parreira, Ricardo1 (AUTHOR), Azevedo Soares, Célia12,13,14,15 (AUTHOR), Menéres, Maria João1,2 (AUTHOR), Lemos, Carolina2,16 (AUTHOR), Melo Beirão, João1,2 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 4/9/2024, Vol. 19 Issue 1, p1-12. 12p.
Autor:
Marques, João Pedro1,2,3 (AUTHOR), Marta, Ana4,5 (AUTHOR), Geada, Sara1 (AUTHOR), Carvalho, Ana Luísa2,6,7 (AUTHOR), Menéres, Pedro4,5 (AUTHOR), Murta, Joaquim1,2,3 (AUTHOR), Saraiva, Jorge2,6,8 (AUTHOR), Silva, Rufino1,2,3 (AUTHOR)
Publikováno v:
Ophthalmologica. 2022, Vol. 245 Issue 2, p134-143. 10p.
Publikováno v:
JAMA Ophthalmology; Aug2023, Vol. 141 Issue 8, pe231018-e231018, 1p
Autor:
Geada, Sara, Teixeira-Marques, Francisco, Teixeira, Bruno, Carvalho, Ana Luísa, Lousan, Nuno, Saraiva, Jorge, Murta, Joaquim, Silva, Rufino, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Dhaenens, Claire-Marie, Blanchet, Catherine, Meunier, Isabelle, Marques, João Pedro
Publikováno v:
Genes; Apr2023, Vol. 14 Issue 4, p830, 11p