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Publications
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Results 1-35 of 35 (Search time: 0.458 seconds).

Issue DateTitleAuthor(s)TypeAccess
125-Jan-2012Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1Ribeiro, Maria José ; Violante, Inês R ; Bernardino, Inês ; Ramos, Fabiana ; Saraiva, Jorge ; Reviriego, Pablo ; Upadhyaya, Meena ; Silva, Eduardo D. ; Castelo-Branco, Miguel articleopenAccess
22012Abnormal brain activation in neurofibromatosis type 1: a link between visual processing and the default mode networkViolante, Inês R. ; Ribeiro, Maria J. ; Cunha, Gil ; Bernardino, Inês ; Duarte, João V. ; Ramos, Fabiana ; Saraiva, Jorge ; Silva, Eduardo ; Castelo-Branco, Miguel articleopenAccess
321-Feb-2014Abnormal late visual responses and alpha oscillations in neurofibromatosis type 1: a link to visual and attention deficitsRibeiro, Maria J. ; Almeida, Otília C. d' ; Ramos, Fabiana ; Saraiva, Jorge ; Silva, Eduardo D. ; Castelo-Branco, Miguel articleopenAccess
422-Jun-2016Accelerated age-related olfactory decline among type 1 Usher patientsRibeiro, João Carlos; Oliveiros, Bárbara ; Pereira, Paulo ; António, Natália ; Hummel, Thomas; Paiva, António ; Silva, Eduardo D. articleopenAccess
52011Autosomal recessive nanophthalmos : MFRP mutation and phenotypical spectrumBreda, João Filipe Barbosa masterThesisopenAccess
617-Jul-2014Characterization of a portuguese LCA family secondary to homozygous RPE65 mutationQuintas, Bruna Filipa Gomes Botelho masterThesisopenAccess
72014Clinical and molecular characterization of infantile neuroaxonal dystrophy patientsSilva, Nuno Miguel Barata Gaião Cunha da masterThesisopenAccess
82011Clinical assessment of rod-cone dystrophy patients carrying rhodopsin mutationsBeato, João Nuno Bicho masterThesisopenAccess
92016Cultural Adaptation of the Portuguese Version of the "Sniffin' Sticks" Smell Test: Reliability, Validity, and Normative DataRibeiro, João Carlos ; Simões, João ; Silva, Filipe; Silva, Eduardo ; Hummel, Cornelia; Hummel, Thomas; Paiva, António articleopenAccess
102011CYPBI mutations in portuguese patients with primary congenital glaucomaCarvalho, Ana Rita Simões masterThesisopenAccess
11Mar-2010A dinâmica do tecido ósseo : desenvolvimento, estrutura e funçãoSimões, Maria Luis Lucas dos Santos Cruz masterThesisopenAccess
122014O "Disease Mongering" no ensino superior : um estudo em alunos universitários de medicinaLinhares, Maria Inês Reis Carneiro Aroso masterThesisopenAccess
132014Displasia epimetadiafisária autossómica recessiva associada a surdez neurossensorial grave e displasia dos cones e bastonetes grave de inicio precoce : uma nova síndrome?Valente, Cátia Celina dos Santos masterThesisopenAccess
142011Doença de CoatsCarvalho, Ana Luísa Dias de masterThesisopenAccess
152019Enhanced Visual Attentional Modulation in Patients with Inherited Peripheral Retinal Degeneration in the Absence of Cortical DegenerationFerreira, Sónia ; Pereira, Andreia Carvalho ; Quendera, Bruno ; Reis, Aldina ; Silva, Eduardo Duarte ; Castelo-Branco, Miguel articleopenAccess
162008Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relativesMaia-Lopes, Susana ; Silva, Eduardo D. ; Silva, Maria Fátima ; Reis, Aldina ; Faria, Pedro ; Castelo-Branco, Miguel articleopenAccess
172010Gene therapy for Stargardt and other ABCA4-related diseases: lessons from RPE65-LCA trialsSilva, Nuno Filipe Aguiar masterThesisopenAccess
182011Genotype-phenotype correlations in CFEOM syndrome : studies in the portuguese populationGante, Inês Raquel Cardoso masterThesisopenAccess
192010Genotyphe-phenotype correlations in BEST1 associated diseasesFerreira, Cátia Marisa Alves masterThesisopenAccess
2013-Feb-2013Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalitiesViolante, Inês R. ; Ribeiro, Maria J. ; Silva, Eduardo D. ; Castelo-Branco, Miguel articleopenAccess
211-Jun-2017Identification of candidate genes associated with primary congenital glaucoma in patients negative for CYP1B1 mutationsCarmona, Susana Margarida Martins doctoralThesisembargoedAccess
2229-Mar-2019Late Ophthalmologic Referral of Anisometropic Amblyopia: A Retrospective Study of Different Amblyopia SubtypesVieira, Maria João; Guimarães, Sandra Viegas; Costa, Patrício; Silva, Eduardo articleopenAccess
2317-Mar-2016A new and integrative multisensory approach to Usher Syndrome: from genotypes towards an improved characterization of phenotypesRibeiro, João Carlos Gomes Silva doctoralThesisembargoedAccess
242003O papel dos factores de transcrição no desenvolvimento ocular : estudos do SIX6 e de outras moléculas reguladoras.Silva, Eduardo José Gil Duarte doctoralThesisembargoedAccess
25Mar-2012Phenotypical and molecular characterization of portuguese leber congenital amaurosis patientsProença, Ana Rita Pinto Barreiros masterThesisopenAccess
262015Phenotypical and molecular characterization of portuguese usher syndrome patientsNunes, Jóni Luís Soares masterThesisopenAccess
272017Primary visual cortical remapping in patients with inherited peripheral retinal degenerationFerreira, Sónia; Pereira, Andreia Carvalho ; Quendera, Bruno ; Reis, Aldina; Silva, Eduardo Duarte ; Castelo-Branco, Miguel articleopenAccess
28Mar-2011Querotopatia em doentes com mieloma múltiploPaiva, Ana Raquel de Freitas Rodrigues masterThesisopenAccess
29Dec-2008Retinal function in best macular dystrophy: relationship between electrophysiological, psychophysical, and structural measures of damageMaia-Lopes, Susana ; Silva, Eduardo Duarte ; Reis, Aldina ; Silva, Maria Fátima ; Mateus, Catarina ; Castelo-Branco, Miguel articleopenAccess
302010Síndrome de blefarofimose-ptose-epicantus inversusPereira, Daniel Alexandre da Conceição masterThesisopenAccess
312014Spastic paraplegia with juvenile onset optic neuropathy|Pacheco, Mariana Teixeira Pinto Ferreira masterThesisopenAccess
3231-May-2017Spectrum of Ophthalmological Manifestations of Early-Onset Cobalamin C DeficiencyBarão, Rafael Correia masterThesisembargoedAccess
3312-Sep-2017Structure-function correlations in Retinitis Pigmentosa patients with partially preserved vision: a voxel-based morphometry studyMachado, Ana Rita ; Pereira, Andreia Carvalho ; Ferreira, Fábio ; Ferreira, Sónia ; Quendera, Bruno ; Silva, Eduardo ; Castelo-Branco, Miguel articleopenAccess
341-Oct-2020SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital GlaucomaYoung, Terri L.; Whisenhunt, Kristina N.; Jin, Jing; LaMartina, Sarah M.; Martin, Sean M.; Souma, Tomokazu; Limviphuvadh, Vachiranee; Suri, Fatemeh; Souzeau, Emmanuelle; Zhang, Xue; Dan, Yongwook; Anagnos, Evie; Carmona, Susana ; Jody, Nicole M.; Stangel, Nickie; Higuchi, Emily C.; Huang, Samuel J.; Siggs, Owen M.; Simões, Maria José; Lawson, Brendan M.; Martin, Jacob S.; Elahi, Elahe; Narooie-Nejad, Mehrnaz; Motlagh, Behzad Fallahi; Quaggin, Susan E.; Potter, Heather D.; Silva, Eduardo D. ; Craig, Jamie E.; Egas, Conceição ; Maroofian, Reza; Maurer-Stroh, Sebastian; Bradfield, Yasmin S.; Tompson, Stuart W.articleopenAccess
352007Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disordersCastelo-Branco, Miguel ; Mendes, Mafalda ; Sebastião, Ana Raquel ; Reis, Aldina ; Soares, Mário ; Saraiva, Jorge ; Bernardes, Rui ; Flores, Raquel ; Pérez-Jurado, Luis ; Silva, Eduardo articleopenAccess