Leonardo Colombo - Dissemin

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All papers authored by Leonardo Colombo

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2023 Gabriele Bonetti

ORCID

, William Cozza, Andrea Bernini

ORCID

, Jurgen Kaftalli, Chiara Mareso, Francesca Cristofoli, Maria Chiara Medori, Leonardo Colombo

ORCID

, Salvatore Martella, Giovanni Staurenghi, Anna Paola Salvetti

ORCID

, Benedetto Falsini

ORCID

, Giorgio Placidi

ORCID

, Marcella Attanasio, Grazia Pertile and 10 other authors

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants

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Francesco Bandello

ORCID

, Maurizio Battaglia Parodi

ORCID

, Leonardo Colombo

ORCID

, Fabrizio Giansanti, Francesco Saverio Mennini, Marcello Pani, Francesco Parmeggiani

ORCID

ORCID

, Stanislao Rizzo, Annalisa Scopinaro

ORCID

, Andrea Sodi, Ugo Trama, Annamaria Staiano

ORCID

, Giovanni Staurenghi, Francesca Simonelli

Diagnostic-therapeutic pathway and organizational model for gene therapy in the administration of congenital retinal dystrophies in real-life

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2021 Amedeo Biasi, Valerio Marino

ORCID

, Giuditta Dal Cortivo, Paolo Enrico Maltese

ORCID

, Antonio Mattia Modarelli, Matteo Bertelli

ORCID

, Leonardo Colombo

ORCID

, Daniele Dell’Orco

ORCID

A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase

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Fabio Patelli, Leonardo Colombo

ORCID

, Mohamed Omar M. Aly, Luca Rossetti

Anatomical Changes Between Argus Ii Retinal Prosthesis and Inner Retinal Layers Detected by Spectral Domain Optical Coherence Tomography in First Year: A Case Report

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Leonardo Colombo

ORCID

ORCID

, Michele Dei Cas

ORCID

, Francesco Luciano

ORCID

ORCID

, Rita Paroni, Fabio Patelli, Riccardo Ghidoni, Luca Rossetti

Vitreous composition modification after transpalpebral electrical stimulation of the eye: Biochemical analysis

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Leonardo Colombo

ORCID

, Paolo E. Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli

ORCID

and 1 other authors

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

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2020 Giancarlo Iarossi, Valerio Marino

ORCID

, Paolo Enrico Maltese

ORCID

, Leonardo Colombo

ORCID

, Fabiana D’Esposito

ORCID

ORCID

, Kristjana Dhuli, Antonio Mattia Modarelli, Gilda Cennamo, Adriano Magli, Daniele Dell’Orco

ORCID

, Matteo Bertelli

ORCID

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

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Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese

ORCID

, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo

ORCID

, Matteo Bertelli

ORCID

A very early diagnosis of Alstrӧm syndrome by next generation sequencing

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Fabio Patelli, Monica Falleni, Leonardo Colombo

ORCID

, Carla Martinelli, Delfina Tosi, Gaetano Bulfamante, Luca Rossetti

Epiretinal Fibrosis Removal in an Argus Ii–implanted Eye

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2019 Vladimir Frecer, Giancarlo Iarossi, Anna Paola Salvetti, Paolo Enrico Maltese

ORCID

, Giulia Delledonne, Marta Oldani, Giovanni Staurenghi, Benedetto Falsini, Angelo Maria Minnella, Lucia Ziccardi, Adriano Magli, Leonardo Colombo

ORCID

, Fabiana D’Esposito, Jan Miertus, Francesco Viola and 3 other authors

Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

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Elena Manara

ORCID

, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo

ORCID

, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti and 2 other authors

Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

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2018 Leonardo Colombo

ORCID

ORCID

, Paolo E. Maltese, Vladimir Frecer

ORCID

, Jan Miertuš, Davide Cerra, Matteo Bertelli

ORCID

, Luca Rossetti

Oguchi type I caused by a homozygous missense variation in the SAG gene

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Leonardo Colombo

ORCID

, Giovanni Montesano, Barbara Sala, Fabio Patelli, Paolo Maltese, Andi Abeshi, Matteo Bertelli

ORCID

, Luca Rossetti

Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study

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Paolo E. Maltese, Giancarlo Iarossi, Lucia Ziccardi

ORCID

, Leonardo Colombo

ORCID

, Luca Buzzonetti, Antonino Crinò

ORCID

, Silvia Tezzele, Matteo Bertelli

ORCID

A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome

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2017 Giovanni Montesano

ORCID

, Davide Allegrini, Leonardo Colombo

ORCID

, Luca M. Rossetti, Alfredo Pece

Features of the normal choriocapillaris with OCT-angiography: Density estimation and textural properties

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L. Colombo

ORCID

, E. Melardi, P. Ferri, G. Montesano, S. Samir Attaalla, F. Patelli, S. De Cillà, G. Savaresi, L. Rossetti

Visual function improvement using photocromic and selective blue-violet light filtering spectacle lenses in patients affected by retinal diseases

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2016 Leonardo Colombo

ORCID

, Paolo Fogagnolo, Giovanni Montesano, Stefano De Cillà, Nicola Orzalesi, Luca Rossetti

Strategies to estimate the characteristics of 24-hour IOP curves of treated glaucoma patients during office hours

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2015 Leonardo Colombo

ORCID

, Francesca Bertuzzi, Eliana Rulli, Stefano Miglior

Correlations Between the Individual Risk for Glaucoma and RNFL and Optic Disc Morphometrical Evaluations in Ocular Hypertensive Patients:

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L. Colombo

ORCID

, B. Sala, G. Montesano, C. Pierrottet, S. De Cillà, P. Maltese, M. Bertelli, L. Rossetti

Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT

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