Eduardo Jose Gil Duarte Silva


AuthID: R-000-4EZ

Confirmed Publications: 34



21
TITLE: Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G > A point mutation - A case report  Full Text
AUTHORS: Manuela M Grazina ; Luisa M Diogo; Paula C Garcia; Eduardo D Silva ; Teresa D Garcia; Conceicao B Robalo; Catarina R Oliveira ;
PUBLISHED: 2007, SOURCE: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, VOLUME: 11, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID
22
TITLE: Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome  Full Text
AUTHORS: Engenheiro, E; Saraiva, J; Carreira, I; Ramos, L; Ropers, HH; Silva, E ; Tommerup, N; Tumer, Z;
PUBLISHED: 2007, SOURCE: CLINICAL GENETICS, VOLUME: 72, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID
23
TITLE: Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders
AUTHORS: Miguel Castelo Branco ; Mafalda Mendes; Ana Raquel Sebastiao ; Aldina Reis ; Mario Soares; Jorge Saraiva; Rui Bernardes ; Raquel Flores; Luis Perez Jurado; Eduardo Silva ;
PUBLISHED: 2007, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 117, ISSUE: 12
INDEXED IN: Scopus WOS
IN MY: ORCID
24
TITLE: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus  Full Text
AUTHORS: Stoetzel, C; Laurier, V; Davis, EE; Muller, J; Rix, S; Badano, JL; Leitch, CC; Salem, N; Chouery, E; Corbani, S; Jalk, N; Vicaire, S; Sarda, P; Hamel, C; Lacombe, D; Holder, M; Odent, S; Holder, S; Brooks, AS; Elcioglu, NH; Da Silva, E ; Rossillion, B; Sigaudy, S; de Ravel, TJL; Lewis, RA; Leheup, B; Verloes, A; Amati Bonneau, P; Megarbane, A; Poch, O; Bonneau, D; Beales, PL; Mandel, JL; Katsanis, N; Dollfus, H; ...More
PUBLISHED: 2006, SOURCE: NATURE GENETICS, VOLUME: 38, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 142
IN MY: ORCID
25
TITLE: Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein
AUTHORS: Sundin, OH; Leppert, GS; Silva, ED ; Yang, JM; Dharmaraj, S; Maumenee, IH; Santos, LC; Parsa, CF; Traboulsi, EI; Broman, KW; DiBernardo, C; Sunness, JS; Toy, J; Weinberg, EM;
PUBLISHED: 2005, SOURCE: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, VOLUME: 102, ISSUE: 27
INDEXED IN: Scopus WOS CrossRef: 66
IN MY: ORCID
26
TITLE: Quantitative phenotyping of chromatic dysfunction in best macular dystrophy
AUTHORS: Campos, SH; Forjaz, V; Kozak, LR; Silva, E ; Castelo Branco, M ;
PUBLISHED: 2005, SOURCE: ARCHIVES OF OPHTHALMOLOGY, VOLUME: 123, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
27
TITLE: A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber congenital amaurosis  Full Text
AUTHORS: Silva, E ; Dharmaraj, S; Li, YY; Pina, AL; Carter, RC; Loyer, M; Traboulsi, E; Theodossiadis, G; Koenekoop, RK; Sundin, OH; Maumenee, IH;
PUBLISHED: 2004, SOURCE: Ophthalmic Genetics, VOLUME: 25, ISSUE: 3
INDEXED IN: Scopus CrossRef: 8
IN MY: ORCID
28
29
TITLE: Redefining papillorenal syndrome: An underdiagnosed cause of ocular and renal morbidity  Full Text
AUTHORS: Parsa, CF; Silva, ED ; Sundin, OH; Goldberg, MF; Robert R De Jong; Sunness, JS; Zeimer, R; Hunter, DG;
PUBLISHED: 2001, SOURCE: Ophthalmology, VOLUME: 108, ISSUE: 4
INDEXED IN: Scopus CrossRef: 46
IN MY: ORCID
30
TITLE: A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype
AUTHORS: Silva, E ; Yang, JM; Li, Y; Dharmaraj, S; Sundin, OH; Maumenee, IH;
PUBLISHED: 2000, SOURCE: Investigative Ophthalmology and Visual Science, VOLUME: 41, ISSUE: 8
INDEXED IN: Scopus
IN MY: ORCID
Página 3 de 4. Total de resultados: 34.

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