المؤلفون: Elena Polishchuk, Carel B. Hoyng, Elena Marrocco, Alberto Auricchio, Ivana Trapani, Silvia Albert, Carlo Gesualdo, Carolina Iodice, Laura Giaquinto, Miriam Centrulo, Francesca Simonelli, Renato Minopoli, Enrico Maria Surace, Mariangela Lupo, Settimio Rossi, Maria Antonietta De Matteis, Frans P.M. Cremers, Paola Tiberi, Patrizia Tornabene, Antonella Iuliano, Roman S. Polishchuk, Sonia de Simone, Fabio Dell'Aquila

المساهمون: Tornabene, Patrizia, Trapani, I., Minopoli, R., Centrulo, M., Lupo, M., De Simone, S., Tiberi, Mario, Dell'Aquila, F., Marrocco, E., Iodice, C., Iuliano, A., Gesualdo, C., Rossi, S., Giaquinto, L., Albert, S., Hoyng, C. B., Polishchuk, E., Cremers, F. P. M., Surace, E. M., Simonelli, F., De Matteis, M. A., Polishchuk, R., Auricchio, A., Trapani, Ivana, Minopoli, Renato, Centrulo, Miriam, Lupo, Mariangela, de Simone, Sonia, Tiberi, Paola, Dell'Aquila, Fabio, Marrocco, Elena, Iodice, Carolina, Iuliano, Antonella, Gesualdo, Carlo, Rossi, Settimio, Giaquinto, Laura, Albert, Silvia, Hoyng, Carel B., Polishchuk, Elena, Cremers, Frans P. M., Surace, Enrico M., Simonelli, Francesca, De Matteis, Maria A., Polishchuk, Roman, Auricchio, Alberto

المصدر: Science Translational Medicine, 11, 492
Science Translational Medicine, 11
Sci Transl Med

مصطلحات موضوعية: 0301 basic medicine, Swine, Genetic enhancement, Genetic Vectors, Green Fluorescent Proteins, Induced Pluripotent Stem Cells, Protein reconstitution, Trans-splicing, Biology, medicine.disease_cause, Retina, Article, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Inteins, Trans-Splicing, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, medicine, Animals, Humans, Adeno-associated virus, Gene, Gene Transfer Techniques, Retinal, General Medicine, Dependovirus, 3. Good health, Cell biology, Organoids, Phenotype, 030104 developmental biology, medicine.anatomical_structure, chemistry, Intein, 030217 neurology & neurosurgery, Photoreceptor Cells, Vertebrate

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19d956983101b66a2b30b8d24fbf4cecTest
https://hdl.handle.net/2066/204011Test

المؤلفون: Francesca Simonelli, Roman S. Polishchuk, Massimo Giunti, Elena V. Polishchuk, Maria Laura Bacci, Elisabetta Toriello, Andrea Sommella, Carolina Iodice, Sonia de Simone, Settimio Rossi, Alberto Auricchio, Linda Colecchi, Ivana Trapani, Pasqualina Colella

المساهمون: Trapani, Ivana, Toriello, Elisabetta, de Simone, Sonia, Colella, Pasqualina, Iodice, Carolina, Polishchuk, Elena V, Sommella, Andrea, Colecchi, Linda, Rossi, Settimio, Simonelli, Francesca, Giunti, Massimo, Bacci, Maria L, Polishchuk, Roman S, Auricchio, Alberto, Bacci, MARIA LAURA, De Simone, Sonia, Polishchuk, Elena V., Bacci, Maria L., Polishchuk, Roman S.

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Swine, Genetic enhancement, viruses, Administration, Ophthalmic, Homology (biology), Macular Degeneration, Mice, 0302 clinical medicine, HEK293 Cell, Protein biosynthesis, Transgenes, Genetics (clinical), 0303 health sciences, Terminal Repeat Sequence, General Medicine, Articles, Dependovirus, Dependoviru, Stargardt disease, Female, Genetic Vector, AAV Vector, Human, ATP-Binding Cassette Transporter, Transgene, Genetic Vectors, Heterologous, Biology, Retina, Mouse model, 03 medical and health sciences, Gene therapy, Genetic, Genetics, medicine, Animals, Humans, Gene, Molecular Biology, 030304 developmental biology, Animal, HEK 293 cells, Terminal Repeat Sequences, Genetic Therapy, medicine.disease, Molecular biology, Disease Models, Animal, HEK293 Cells, ATP-Binding Cassette Transporters, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508edf1e50db352683d8fb83b8b86487Test
http://hdl.handle.net/11588/623722Test

المؤلفون: Andrea Sommella, Elena Marrocco, Giulia Cesi, Massimo Giunti, Gwyneth Jane Farrar, Settimio Rossi, Carolina Iodice, Roman S. Polishchuk, Sonia de Simone, Alberto Auricchio, Arpad Palfi, Ivana Trapani, Pasqualina Colella

المساهمون: Trapani I, Colella P, Sommella A, Iodice C, Cesi G, De Simone S, Marrocco E, Rossi S, Giunti M, Palfi A, Jane Farrar G, Polishchuk R, Auricchio A, Trapani, I, Colella, P, Sommella, A, Iodice, C, Cesi, G, De Simone, S, Marrocco, E, Rossi, S, Giunti, M, Palfi, A, Jane Farrar, G, Polishchuk, R, Auricchio, Alberto, de Simone, S, Rossi, Settimio, Farrar, Gj, Auricchio, A.

المصدر: EMBO Molecular Medicine

مصطلحات موضوعية: retina, Genetic enhancement, viruses, Sus scrofa, Retinal Pigment Epithelium, ABCA4, Trans-Splicing, retinal gene therapy, Transduction (genetics), Macular Degeneration, Mice, 0302 clinical medicine, Transduction, Genetic, Stargardt Disease, Genetics, 0303 health sciences, Melanosomes, Gene Transfer Techniques, AAV, Dependovirus, gene therapy, MYO7A, Phenotype, Myosin VIIa, RNA splicing, Molecular Medicine, Usher Syndromes, Photoreceptor Cells, Vertebrate, Research Article, Rhodopsin, Genetic Vectors, Computational biology, Biology, Myosins, Injections, Lipofuscin, 03 medical and health sciences, medicine, Animals, Humans, Gene, 030304 developmental biology, HEK 293 cells, medicine.disease, Stargardt disease, Mice, Inbred C57BL, Disease Models, Animal, HEK293 Cells, ATP-Binding Cassette Transporters, Homologous recombination, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c51efd9d586ae45bea7e76a75af45caTest
https://pubmed.ncbi.nlm.nih.gov/24150896Test

المؤلفون: Carmela Ziviello, M Rinaldi, Francesco Testa, Sandro Banfi, V. Di Iorio, Francesca Simonelli, Settimio Rossi, E Interlandi, Alfredo Ciccodicola

المساهمون: Testa, Francesco, Ziviello, C., Rinaldi, Michele, Rossi, Settimio, DI IORIO, V., Interlandi, E., Ciccodicola, A., Banfi, Sandro, Simonelli, Francesca

المصدر: Europe PubMed Central
Scopus-Elsevier
European Journal of Ophthalmology (Testo stamp.) 16 (2006): 779–781.
info:cnr-pdr/source/autori:Testa F, Ziviello C, Rinaldi M, Rossi S, Di Iorio V, Interlandi E, Ciccodicola A, Banfi S, Simonelli F/titolo:Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene./doi:/rivista:European Journal of Ophthalmology (Testo stamp.)/anno:2006/pagina_da:779/pagina_a:781/intervallo_pagine:779–781/volume:16

مصطلحات موضوعية: Male, P2301S mutation, Biology, Autosomal dominant retinitis pigmentosa, 03 medical and health sciences, PRPF8 gene, 0302 clinical medicine, Dna genetics, Electroretinography, Humans, A D R P, Clinical phenotype, Gene, Genetics, Point mutation, RNA-Binding Proteins, DNA, General Medicine, Phenotype, eye diseases, Pedigree, Ophthalmoscopy, Ophthalmology, Italy, Mutation, New mutation, Mutation (genetic algorithm), 030221 ophthalmology & optometry, Female, Carrier Proteins, Retinitis Pigmentosa, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a90d26f18e0cdbc7fca5b6d5f2cd79Test
http://europepmc.org/abstract/med/17061239Test