IRIS

KARALI, MARIANTHI

KARALI, MARIANTHI  

Dipartimento di Medicina di Precisione  

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Titolo Data di pubblicazione Autore(i) File
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 1-gen-2008 Trifunovic, D; Karali, M; Campogampiero, D; Ponzin, D; Banfi, Sandro; Marigo, V.
A high-resolution view of the human retina miRNome 1-gen-2016 Banfi, S; Karali, M; Persico, M; Mutarelli, M; Carissimo, A; Pizzo, M; Ambrosio, C; Pinelli, M; di Bernardo, D
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss 1-gen-2025 Scarpato, Margherita; Testa, Francesco; Nesti, Anna; Zeuli, Roberta; Boccia, Rosa; Auletta, Gennaro; Banfi, Sandro; Simonelli, Francesca; Karali, Marianthi
A Simplified Technique for In situ Excision of Cornea and Evisceration of Retinal Tissue from Human Ocular Globe 1-gen-2012 Parekh, M; Ferrari, S; Di Iorio, E; Barbaro, V; Camposampiero, D; Karali, M; Ponzin, D; Salvalaio, G
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 1-gen-2020 Karali, M.; Guadagnino, I.; Marrocco, E.; De Cegli, R.; Carissimo, A.; Pizzo, M.; Casarosa, S.; Conte, I.; Surace, E. M.; Banfi, S.
An atlas of gene expression and gene co-regulation in the human retina 1-gen-2016 Pinelli, Michele; Carissimo, Annamaria; Cutillo, Luisa; Lai, Ching Hung; Mutarelli, Margherita; Moretti, Maria Nicoletta; Singh, Marwah Veer; Karali, Marianthi; Carrella, Diego; Pizzo, Mariateresa; Russo, Francesco; Ferrari, Stefano; Ponzin, Diego; Angelini, Claudia; Banfi, Sandro; Di Bernardo, Diego
Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study 1-gen-2020 Testa, F; Carreno, E; Vermeer, K; Di Lorio, V; Jimenez-Rolando, B; Karali, M; Sandoval, Bg; Romero, Ip; Salvador, Jm; Melillo, P; Banfi, S; Auricchio, A; van den Born, Li; Ayuso, C; Simonelli, F
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 1-gen-2019 Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N.; Mckibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P.; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F.; Banfi, Sandro; De Baere, Elfride
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 1-gen-2020 Karali, M.; Testa, F.; Brunetti Pierri, R.; Di Iorio, V; Pizzo, M.; Melillo, P.; Barillari, M. R.; Torella, A.; Musacchia, F.; D'Angelo, L.; Banfi, S.; Simonelli, F.
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 1-gen-2017 Di Iorio, Valentina; Karali, Marianthi; Brunetti-pierri, Raffaella; Filippelli, Mariaelena; Di Fruscio, Giuseppina; Pizzo, Mariateresa; Mutarelli, Margherita; Nigro, Vincenzo; Testa, Francesco; Banfi, Sandro; Simonelli, Francesca
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study 1-gen-2021 Brunetti-Pierri, Raffaella; Karali, Marianthi; Melillo, Paolo; Di Iorio, Valentina; De Benedictis, Antonella; Iaccarino, Gennarfrancesco; Testa, Francesco; Banfi, Sandro; Simonelli, Francesca
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 1-gen-2021 Brunetti-Pierri, R.; Karali, M.; Melillo, P.; Di Iorio, V.; De Benedictis, A.; Iaccarino, G.; Testa, F.; Banfi, S.; Simonelli, F.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (Genetics in Medicine, (2018), 10.1038/s41436-018-0345-5) 1-gen-2019 Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N.; Mckibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P.; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F.; Banfi, Sandro; De Baere, Elfride
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis 1-gen-2023 Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Holtes, Lara K.; de Bruijn, Suzanne E.; Reurink, Janine; Boonen, Erica G. M.; Khan, Muhammad Imran; Ali, Manir; Andréasson, Sten; De Baere, Elfride; Banfi, Sandro; Bauwens, Miriam; Ben-Yosef, Tamar; Bocquet, Béatrice; De Bruyne, Marieke; Cerda, Berta de la; Coppieters, Frauke; Farinelli, Pietro; Guignard, Thomas; Inglehearn, Chris F.; Karali, Marianthi; Kjellström, Ulrika; Koenekoop, Robert; de Koning, Bart; Leroy, Bart P.; Mckibbin, Martin; Meunier, Isabelle; Nikopoulos, Konstantinos; Nishiguchi, Koji M.; Poulter, James A.; Rivolta, Carlo; Rodríguez de la Rúa, Enrique; Saunders, Patrick; Simonelli, Francesca; Tatour, Yasmin; Testa, Francesco; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tracewska, Anna M.; Tran, Hoai Viet; Ushida, Hiroaki; Vaclavik, Veronika; Verhoeven, Virginie J. M.; van de Vorst, Maartje; Gilissen, Christian; Hoischen, Alexander; Cremers, Frans P. M.; Roosing, Susanne
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort 1-gen-2025 Testa, Francesco; Karali, Marianthi; Boccia, Rosa; Pisani, Danila; Damiano, Luciana; Nicolò, Antonio; Madonna, Emanuele; De Rosa, Luigi; Colucci, Raffaella; De Benedictis, Antonella; Di Iorio, Valentina; Melillo, Paolo; Banfi, Sandro; Simonelli, Francesca
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa 1-gen-2026 Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; De Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; Altalbishi, Ala'A; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin Des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; De La Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R De J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; Mckibbin, Martin; Mclaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; Van Aerschot, Joseph; Van Den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo
Definition of the organization of the ABCA4 transcriptional unit by meta-analysis of transcriptome data 1-gen-2021 Ruiz Ceja, K A; Pinelli, M; Karali, M; Iuliano, A; Failli, M; Di Filippo, L; di Bernardo, D; Banfi, S
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration 1-gen-2025 Salameh, Manar; Abu Tair, Ghadeer; Mousa, Samira; Obolensky, Alexey; Swaroop, Anand; Roosing, Susanne; Mezer, Eedy; Soudry, Shiri; Karali, Marianthi; Simonelli, Francesca; Banfi, Sandro; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror; Khateb, Samer
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 1-gen-2022 Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P M; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro
High Resolution Gene Expression Analysis in the Human Retina 1-gen-2007 Trifunovic, D; Karali, M; Campogampiero, D; Ponzin, D; Marigo, V; Banfi, S