2
TITLE: SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma
AUTHORS: Terri L Young; Kristina N Whisenhunt; Jing Jin; Sarah M LaMartina; Sean M Martin; Tomokazu Souma; Vachiranee Limviphuvadh; Fatemeh Suri; Emmanuelle Souzeau; Xue Zhang; Yongwook Dan; Evie Anagnos; Susana Carmona; Nicole M Jody; Nickie Stangel; Emily C Higuchi; Samuel J Huang; Owen M Siggs; Maria Jose Simoes; Brendan M Lawson; Jacob S Martin; Elahe Elahi; Mehrnaz Narooie Nejad; Behzad Fallahi Motlagh; Susan E Quaggin; Heather D Potter; Eduardo D Silva; Jamie E Craig; Conceicao Egas; Reza Maroofian; Sebastian Maurer Stroh; Yasmin S Bradfield; Stuart W Tompson; ...More
PUBLISHED: 2020, SOURCE: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 61, ISSUE: 12
INDEXED IN: Scopus WOS
3
TITLE: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
INDEXED IN: Scopus WOS
5
TITLE: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
INDEXED IN: WOS
6
TITLE: Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature
AUTHORS: Isabel Pascual Camps; Honorio Barranco Gonzalez; Juan Avino Martinez; Eduardo Silva; Miguel Harto Castano;
PUBLISHED: 2018, SOURCE: JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, VOLUME: 55, ISSUE: 2
INDEXED IN: Scopus WOS
7
TITLE: Cytotoxicity of doxorubicin-loaded PLGA and PLGA-PEI nanoparticles: relevance for anti-tumor effects and cardiotoxicity  Full Text
AUTHORS: Candido, C; Ferreira, L; Silva, E; Junior, AJ; Peccinini, R; Oliveira, P;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 48
INDEXED IN: WOS
8
TITLE: CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients  Full Text
AUTHORS: Simoes, MJ; Carmona, S; Roberts, R; Wainwright, G; Faro, C; Silva, E; Egas, C;
PUBLISHED: 2017, SOURCE: OPHTHALMIC GENETICS, VOLUME: 38, ISSUE: 2
INDEXED IN: WOS
Página 1 de 4. Total de resultados: 34.