Eduardo Jose Gil Duarte Silva


AuthID: R-000-4EZ

Confirmed Publications: 34



11
TITLE: AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation
AUTHORS: Gerard, X; Perrault, I; Hanein, S; Silva, E ; Bigot, K; Defoort Delhemmes, S; Rio, M; Munnich, A; Scherman, D; Kaplan, J; Kichler, A; Rozet, JM;
PUBLISHED: 2012, SOURCE: MOLECULAR THERAPY-NUCLEIC ACIDS, VOLUME: 1
INDEXED IN: Scopus WOS
IN MY: ORCID
12
TITLE: AON-mediated exon skipping restores ciliation in fibroblasts harboring the common Leber congenital amaurosis CEP290 mutation.
AUTHORS: Xavier Gerard; Isabelle Perrault; Sylvain Hanein; Eduardo Silva ; Karine Bigot; Sabine Defoort Delhemmes; Marlene Rio; Arnold Munnich; Daniel Scherman; Josseline Kaplan; Antoine Kichler; Jean Michel Rozet;
PUBLISHED: 2012, SOURCE: Collaborative Congress of the European-Society-of-Gene-and-Cell-Therapy/French-Society-of-Cell-and-Gene-Therapy in HUMAN GENE THERAPY, VOLUME: 23, ISSUE: 10
INDEXED IN: WOS
13
TITLE: ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous
AUTHORS: Lev Prasov; Tehmina Masud; Shagufta Khaliq; Qasim Q Mehdi; Aiysha Abid; Edward R Oliver; Eduardo D Silva ; Amy Lewanda; Michael C Brodsky; Mark Borchert; Daniel Kelberman; Jane C Sowden; Mehul T Dattani; Tom Glaser;
PUBLISHED: 2012, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 21, ISSUE: 16
INDEXED IN: Scopus WOS CrossRef: 26
IN MY: ORCID
14
TITLE: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy  Full Text
AUTHORS: Isabelle Perrault; Sylvain Hanein; Xavier Zanlonghi; Valerie Serre; Michael Nicouleau; Sabine Defoort Delhemmes; Nathalie Delphin; Lucas Fares Taie; Sylvie Gerber; Olivia Xerri; Catherine Edelson; Alice Goldenberg; Alice Duncombe; Gylene Le Meur; Christian Hamel; Eduardo Silva ; Patrick Nitschke; Patrick Calvas; Arnold Munnich; Olivier Roche; Helene Dollfus; Josseline Kaplan; Jean Michel Rozet; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 64
IN MY: ORCID
15
TITLE: ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis  Full Text
AUTHORS: Susana Maia Lopes; Jana Aguirre Lamban; Miguel Castelo Branco ; Rosa Riveiro Alvarez; Carmen Ayuso; Eduardo Duarte Silva ;
PUBLISHED: 2009, SOURCE: MOLECULAR VISION, VOLUME: 15, ISSUE: 59
INDEXED IN: Scopus WOS
IN MY: ORCID
16
TITLE: Evidence of widespread retinal dysfunction in patients with Stargardt disease and morphologically unaffected carrier relatives
AUTHORS: Susana Maia Lopes; Eduardo D Silva ; Maria Fatima Silva ; Aldina Reis ; Pedro Faria; Miguel Castelo Branco ;
PUBLISHED: 2008, SOURCE: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 49, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID
17
TITLE: Gene symbol: ABCA4. Disease: Macular dystrophy.
AUTHORS: Maia Lopes, S; Castelo Branco, M ; Silva, E ; Aguirre, J; Riveiro Alvarez, R; Trujillo Tiebas, MJ; Ayuso, C;
PUBLISHED: 2008, SOURCE: Human genetics, VOLUME: 123, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
18
TITLE: Gene symbol: ABCA4. Disease: Stargardt disease.
AUTHORS: Maia Lopes, S; Castelo Branco, M ; Silva, E ; Aguirre Lamban, J; Riveiro Alvarez, R; Trujillo Tiebas, MJ; Ayuso, C;
PUBLISHED: 2008, SOURCE: Human genetics, VOLUME: 123, ISSUE: 5
INDEXED IN: Scopus
IN MY: ORCID
19
TITLE: Gene symbol: BEST1. Disease: Best macular dystrophy.
AUTHORS: Maia Lopes, S; Castelo Branco, M ; Silva, E ; Villaverde, C; Aguirre, J; Trujillo Tiebas, MJ; Ayuso, C;
PUBLISHED: 2008, SOURCE: Human genetics, VOLUME: 123, ISSUE: 1
INDEXED IN: Scopus
20
Página 2 de 4. Total de resultados: 34.

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