المؤلفون: Colombo, Leonardo, Bonetti, Gabriele, Maltese, Paolo Enrico, Iarossi, Giancarlo, Ziccardi, Lucia, Fogagnolo, Paolo, De Ruvo, Valentino, Murro, Vittoria, Giorgio, Dario, Falsini, Benedetto, Placidi, Giorgio, Martella, Salvatore, Galantin, Eleonora, Bertelli, Matteo, Rossetti, Luca

المصدر: Ophthalmic Research ; page 1-1 ; ISSN 0030-3747 1423-0259

الاتاحة: http://dx.doi.org/10.1159/000538746
https://karger.com/ore/article-pdf/doi/10.1159/000538746/4234027/000538746.pdf

المؤلفون: Sinibaldi, Lorenzo, Garone, Giacomo, Mandarino, Alessandra, Iarossi, Giancarlo, Chioma, Laura, Dentici, Maria Lisa, Merla, Giuseppe, Agolini, Emanuele, Micalizzi, Alessia, Mancini, Cecilia, Niceta, Marcello, Macchiaiolo, Marina, Diodato, Daria, Onesimo, Roberta, Blandino, Rita, Delogu, Angelica Bibiana, De Rosa, Gabriella, Trevisan, Valentina, Iademarco, Mariella, Zampino, Giuseppe, Tartaglia, Marco, Novelli, Antonio, Bartuli, Andrea, Digilio, Maria Cristina, Calcagni, Giulio

المساهمون: Ministero della Salute

المصدر: Clinical Genetics ; volume 104, issue 5, page 528-541 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14404
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14404

المؤلفون: Murro, Vittoria, Banfi, Sandro, Testa, Francesco, Iarossi, Giancarlo, Falsini, Benedetto, Sodi, Andrea, Signorini, Sabrina, Iolascon, Achille, Russo, Roberta, Mucciolo, Dario Pasquale, Caputo, Roberto, Bacci, Giacomo Maria, Bargiacchi, Sara, Turco, Simona, Fortini, Stefania, Simonelli, Francesca

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02798-z
https://link.springer.com/content/pdf/10.1186/s13023-023-02798-z.pdf
https://link.springer.com/article/10.1186/s13023-023-02798-z/fulltext.html

المؤلفون: Testa, Francesco, Murro, Vittoria, Signorini, Sabrina, Colombo, Leonardo, Iarossi, Giancarlo, Parmeggiani, Francesco, Falsini, Benedetto, Salvetti, Anna Paola, Brunetti-Pierri, Raffaella, Aprile, Giorgia, Bertone, Chiara, Suppiej, Agnese, Romano, Francesco, Karali, Marianthi, Donati, Simone, Melillo, Paolo, Sodi, Andrea, Quaranta, Luciano, Rossetti, Luca, Buzzonetti, Luca, Chizzolini, Marzio, Rizzo, Stanislao, Staurenghi, Giovanni, Banfi, Sandro, Azzolini, Claudio, Simonelli, Francesca

المساهمون: Testa, Francesco, Murro, Vittoria, Signorini, Sabrina, Colombo, Leonardo, Iarossi, Giancarlo, Parmeggiani, Francesco, Falsini, Benedetto, Salvetti, Anna Paola, Brunetti-Pierri, Raffaella, Aprile, Giorgia, Bertone, Chiara, Suppiej, Agnese, Romano, Francesco, Karali, Marianthi, Donati, Simone, Melillo, Paolo, Sodi, Andrea, Quaranta, Luciano, Rossetti, Luca, Buzzonetti, Luca, Chizzolini, Marzio, Rizzo, Stanislao, Staurenghi, Giovanni, Banfi, Sandro, Azzolini, Claudio, Simonelli, Francesca

مصطلحات موضوعية: RPE65 gene, Leber Congenital Amaurosi, Early-Onset Severe Retinal Dystrophy, genotype-phenotype correlation

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35129589; info:eu-repo/semantics/altIdentifier/wos/WOS:000753033400001; volume:63; issue:2; firstpage:1; lastpage:12; numberofpages:12; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; http://hdl.handle.net/11383/2128137; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124247105

الاتاحة: http://hdl.handle.net/11383/2128137
https://doi.org/10.1167/iovs.63.2.13

المؤلفون: Buzzonetti, Luca, Petroni, Sergio, Federici, Matteo, Valente, Paola, De Sanctis, Carlo, Iarossi, Giancarlo

المصدر: Journal of Refractive Surgery; Oct2024, Vol. 40 Issue 10, pe724-e727, 4p

مصطلحات موضوعية: INTRAOCULAR lenses, CHILDREN'S health, CATARACT surgery, VISUAL acuity, CONTROL groups

المؤلفون: Buzzonetti, Luca, Petroni, Sergio, Federici, Matteo, Valente, Paola, Iarossi, Giancarlo

المصدر: Diseases; Sep2024, Vol. 12 Issue 9, p222, 12p

مصطلحات موضوعية: CHILD patients, EYEGLASSES, PEDIATRIC ophthalmology, AGE groups, MYOPIA

المؤلفون: Falsini, Benedetto, Placidi, Giorgio, De Siena, Elisa, Chiurazzi, Pietro, Minnella, Angelo Maria, Savastano, Maria Cristina, Ziccardi, Lucia, Parisi, Vincenzo, Iarossi, Giancarlo, Percio, Marcella, Piteková, Barbora, Marceddu, Giuseppe, Maltese, Paolo Enrico, Bertelli, Matteo

المساهمون: Provincia Autonoma di Trento

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-022-07618-1
https://www.nature.com/articles/s41598-022-07618-1.pdf
https://www.nature.com/articles/s41598-022-07618-1

المؤلفون: Simonelli, Francesca, Sodi, Andrea, Falsini, Benedetto, Bacci, Giacomo, Iarossi, Giancarlo, Di Iorio, Valentina, Giorgio, Dario, Placidi, Giorgio, Andrao, Assia, Reale, Luigi, Fiorencis, Alessandra, Aoun, Manar

المساهمون: Novartis

المصدر: BMJ Open ; volume 12, issue 9, page e061080 ; ISSN 2044-6055 2044-6055

الاتاحة: https://doi.org/10.1136/bmjopen-2022-061080
https://syndication.highwire.org/content/doi/10.1136/bmjopen-2022-061080

المؤلفون: Maltese, Paolo Enrico, Colombo, Leonardo, Martella, Salvatore, Rossetti, Luca, El Shamieh, Said, Sinibaldi, Lorenzo, Passarelli, Chiara, Coppè, Andrea Maria, Buzzonetti, Luca, Falsini, Benedetto, Chiurazzi, Pietro, Placidi, Giorgio, Tanzi, Benedetta, Bertelli, Matteo, Iarossi, Giancarlo

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2022.914345
https://www.frontiersin.org/articles/10.3389/fgene.2022.914345/full

المؤلفون: Iarossi, Giancarlo, Marino, Valerio, Maltese, Paolo Enrico, Colombo, Leonardo, D'Esposito, Fabiana, Manara, Elena, Dhuli, Kristjana, Modarelli, Antonio Mattia, Cennamo, Gilda, Magli, Adriano, Dell'Orco, Daniele, Bertelli, Matteo

المساهمون: Iarossi, Giancarlo, Marino, Valerio, Maltese, Paolo Enrico, Colombo, Leonardo, D'Esposito, Fabiana, Manara, Elena, Dhuli, Kristjana, Modarelli, Antonio Mattia, Cennamo, Gilda, Magli, Adriano, Dell'Orco, Daniele, Bertelli, Matteo

مصطلحات موضوعية: GTPase, autosomal recessive cone-rod dystrophy, compound heterozygosis, molecular dynamics

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33396523; info:eu-repo/semantics/altIdentifier/wos/WOS:000606204600001; volume:22; issue:381; firstpage:1; lastpage:20; numberofpages:20; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11562/1033928; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099019580; https://doi.org/10.3390/ijms22010381

الاتاحة: http://hdl.handle.net/11562/1033928
https://doi.org/10.3390/ijms22010381

المؤلفون: Testa, Francesco, Bacci, Giacomo, Falsini, Benedetto, Iarossi, Giancarlo, Melillo, Paolo, Mucciolo, Dario Pasquale, Murro, Vittoria, Salvetti, Anna Paola, Sodi, Andrea, Staurenghi, Giovanni, Simonelli, Francesca

المصدر: Eye; September 2024, Vol. 38 Issue: 13 p2504-2515, 12p

المؤلفون: Simonelli,Francesca, Sodi,Andrea, Falsini,Benedetto, Bacci,Giacomo, Iarossi,Giancarlo, Di Iorio,Valentina, Giorgio,Dario, Placidi,Giorgio, Andrao,Assia, Reale,Luigi, Fiorencis,Alessandra, Aoun,Manar

مصطلحات موضوعية: Clinical Ophthalmology

وصف الملف: text/html

Relation: https://www.dovepress.com/care-pathway-of-rpe65-related-inherited-retinal-disorders-from-early-s-peer-reviewed-fulltext-article-OPTH

الاتاحة: https://www.dovepress.com/care-pathway-of-rpe65-related-inherited-retinal-disorders-from-early-s-peer-reviewed-fulltext-article-OPTH

المؤلفون: Simonelli, Francesca, Sodi, Andrea, Falsini, Benedetto, Bacci, Giacomo, Iarossi, Giancarlo, Di Iorio, Valentina, Giorgio, Dario, Placidi, Giorgio, Andrao, Assia, Reale, Luigi, Fiorencis, Alessandra, Aoun, Manar

المصدر: Clinical Ophthalmology ; volume Volume 15, page 4591-4605 ; ISSN 1177-5483

الاتاحة: http://dx.doi.org/10.2147/opth.s331218
https://www.dovepress.com/getfile.php?fileID=76401

المؤلفون: Valente, Paola, Iarossi, Giancarlo, Federici, Matteo, Petroni, Sergio, Palma, Paolo, Cotugno, Nicola, De Ioris, Maria A, Campana, Andrea, Buzzonetti, Luca

المساهمون: Valente, P, Iarossi, G, Federici, M, Petroni, S, Palma, P, Cotugno, N, De Ioris, Ma, Campana, A, Buzzonetti, L

مصطلحات موضوعية: Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32531341; info:eu-repo/semantics/altIdentifier/wos/WOS:000594857400006; volume:24; issue:4; firstpage:212; lastpage:215; numberofpages:4; journal:JOURNAL OF AAPOS; http://hdl.handle.net/2108/259396; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087947127

الاتاحة: http://hdl.handle.net/2108/259396
https://doi.org/10.1016/j.jaapos.2020.05.002

المؤلفون: Manara, Elena, Paolacci, Stefano, D’Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Marta, Balzarini, Maltese, Paolo Enrico, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo

المساهمون: Provincia autonoma di Bolzano

المصدر: Italian Journal of Pediatrics ; volume 45, issue 1 ; ISSN 1824-7288

الاتاحة: http://dx.doi.org/10.1186/s13052-019-0659-1
http://link.springer.com/content/pdf/10.1186/s13052-019-0659-1.pdf
http://link.springer.com/article/10.1186/s13052-019-0659-1/fulltext.html

المؤلفون: Frecer, Vladimir, Iarossi, Giancarlo, Salvetti, Anna Paola, Maltese, Paolo Enrico, Delledonne, Giulia, Oldani, Marta, Staurenghi, Giovanni, Falsini, Benedetto, Minnella, Angelo Maria, Ziccardi, Lucia, Magli, Adriano, Colombo, Leonardo, D’Esposito, Fabiana, Miertus, Jan, Viola, Francesco, Attanasio, Marcella, Maggio, Emilia, Bertelli, Matteo

المساهمون: Ministero della Salute, Fondazione Roma, Slovak Research and Development Agency, Granting Agency of the Slovak Ministry for Education and the Slovak Academy of Science

المصدر: Journal of Translational Medicine ; volume 17, issue 1 ; ISSN 1479-5876

الاتاحة: http://dx.doi.org/10.1186/s12967-019-2080-3
http://link.springer.com/content/pdf/10.1186/s12967-019-2080-3.pdf
http://link.springer.com/article/10.1186/s12967-019-2080-3/fulltext.html

المؤلفون: Iarossi, Giancarlo, Bertelli, Matteo, Maltese, Paolo Enrico, GUSSON, Elena, MARCHINI, Giorgio, Bruson, Alice, Benedetti, Sabrina, Volpetti, Sabrina, Catena, Gino, Buzzonetti, Luca, Ziccardi, Lucia

المساهمون: Iarossi, Giancarlo, Bertelli, Matteo, Maltese, Paolo Enrico, Gusson, Elena, Marchini, Giorgio, Bruson, Alice, Benedetti, Sabrina, Volpetti, Sabrina, Catena, Gino, Buzzonetti, Luca, Ziccardi, Lucia

مصطلحات موضوعية: familial exudative vitreoretinopathy, genetic variation, phenotype, novel genetic variant, cohort study, Italian patients

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/28758032; info:eu-repo/semantics/altIdentifier/wos/WOS:000405728600001; volume:2017; issue:3080245; firstpage:1; lastpage:10; numberofpages:10; journal:JOURNAL OF OPHTHALMOLOGY; http://hdl.handle.net/11562/967395; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85024486064; https://doi.org/10.1155/2017/3080245

الاتاحة: http://hdl.handle.net/11562/967395
https://doi.org/10.1155/2017/3080245

المؤلفون: Falsini, Benedetto, Iarossi, Giancarlo, Chiaretti, Antonio, Ruggiero, Antonio, Abed, Edoardo

المساهمون: Falsini, Benedetto, Iarossi, Giancarlo, Chiaretti, Antonio, Ruggiero, Antonio, Manni, L, Galli Resta, L, Corbo, G, Abed, Edoardo

مصطلحات موضوعية: Nerve Growth Factor, Retinitis Pigmentosa, Settore MED/30 - MALATTIE APPARATO VISIVO

Relation: info:eu-repo/semantics/altIdentifier/pmid/26748988; info:eu-repo/semantics/altIdentifier/wos/WOS:000368056200001; volume:14; issue:1; firstpage:N/A; lastpage:N/A; issueyear:2016; journal:JOURNAL OF TRANSLATIONAL MEDICINE; http://hdl.handle.net/10807/70245; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84953432274

الاتاحة: http://hdl.handle.net/10807/70245
https://doi.org/10.1186/s12967-015-0750-3

المؤلفون: Nasca, Alessia, Rizza, Teresa, Doimo, Mara, Legati, Andrea, Ciolfi, Andrea, Diodato, Daria, Calderan, Cristina, Carrara, Gianfranco, Lamantea, Eleonora, Aiello, Chiara, Di Nottia, Michela, Niceta, Marcello, Lamperti, Costanza, Ardissone, Anna, Bianchi-Marzoli, Stefania, Iarossi, Giancarlo, Bertini, Enrico, Moroni, Isabella, Tartaglia, Marco, Salviati, Leonardo, Carrozzo, Rosalba, Ghezzi, Daniele

المساهمون: Nasca, A, Rizza, T, Doimo, M, Legati, A, Ciolfi, A, Diodato, D, Calderan, C, Carrara, G, Lamantea, E, Aiello, C, Di Nottia, M, Niceta, M, Lamperti, C, Ardissone, A, Bianchi-Marzoli, S, Iarossi, G, Bertini, E, Moroni, I, Tartaglia, M, Salviati, L, Carrozzo, R, Ghezzi, D

مصطلحات موضوعية: Encephalopathy, Mitochondrial disorder, OPA1, Optic atrophy, Recessive trait, Targeted resequencing, WES, Blotting, Western, Brain Disease, Child, Preschool, Electrophysiology, GTP Phosphohydrolase, Human, Infant, Male, Microscopy, Fluorescence, Mutation, Autosomal Dominant, Tomography, Optical Coherence, Whole Exome Sequencing, Genetics (clinical), Pharmacology (medical)

Relation: info:eu-repo/semantics/altIdentifier/pmid/28494813; info:eu-repo/semantics/altIdentifier/wos/WOS:000401180700002; volume:12; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/10281/205499; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018923242; http://www.ojrd.com/

الاتاحة: http://hdl.handle.net/10281/205499
https://doi.org/10.1186/s13023-017-0641-1
http://www.ojrd.com/

المؤلفون: Iarossi, Giancarlo, Bertelli, Matteo, Maltese, Paolo Enrico, Gusson, Elena, Marchini, Giorgio, Bruson, Alice, Benedetti, Sabrina, Volpetti, Sabrina, Catena, Gino, Buzzonetti, Luca, Ziccardi, Lucia

المصدر: Journal of Ophthalmology ; volume 2017, page 1-2 ; ISSN 2090-004X 2090-0058

الاتاحة: http://dx.doi.org/10.1155/2017/7969364
http://downloads.hindawi.com/journals/joph/2017/7969364.pdf
http://downloads.hindawi.com/journals/joph/2017/7969364.xml