Giacomo Maria Bacci - Children's Hospital A. Meyer, University of Florence

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论文共 41 篇作者统计合作学者相似作者

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Broadening the Ocular Phenotypic Spectrum of Ultra-Rare BRPF1 Variants: Report of Two Cases

Elisa Marziali,Samuela Landini, Erika Fiorentini,Camilla Rocca,Lucia Tiberi,Rosangela Artuso, Laila Zaroili,Elia Dirupo,Pina Fortunato,Sara Bargiacchi,Roberto Caputo,Giacomo Maria Bacci

OPHTHALMIC GENETICS（2024）

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Microperimetry Assessment in Foveal Hypoplasia: Functional Results in a Series of Pediatric Patients

Giacomo Maria Bacci,Marco Ulises Morales,Elena Febbrini del Magro,Pina Fortunato,Elisa Marziali,Gianni Virgili,Winfried Amoaku,Roberto Caputo

CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE（2024）

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Multimodal Phenotyping of Foveal Hypoplasia in Albinism and Albino-Like Conditions: a Pediatric Case Series with Adaptive Optics Insights

Giacomo M Bacci,Elisa Marziali,Sara Bargiacchi, Michel Paques,Gianni Virgili,Pina Fortunato,Marine Durand,Camilla Rocca,Angelica Pagliazzi,Viviana Palazzo,Lucia Tiberi,Debora Vergani,Samuela Landini,Angela Peron,Rosangela Artuso,Bianca Pacini, Monica Stabile,Andrea Sodi, Roberto Caputo

Scientific reportsno. 1 (2024): 15454-15454

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Voretigene Neparvovec for Inherited Retinal Dystrophy Due to RPE65 Mutations: a Scoping Review of Eligibility and Treatment Challenges from Clinical Trials to Real Practice

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

Eye (London, England)no. 13 (2024): 2504-2515

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Ciliopathy Patient Variants Reveal Organelle-Specific Functions for TUBB4B in Axonemal Microtubules

Daniel O. Dodd,Sabrina Mechaussier,Patricia L. Yeyati,Fraser McPhie,Jacob R. Anderson, Chen Jing Khoo,Amelia Shoemark,Deepesh K. Gupta,Thomas Attard,Maimoona A. Zariwala,Marie Legendre,Diana Bracht,Julia Wallmeier,Miao Gui,Mahmoud R. Fassad,David A. Parry,Peter A. Tennant,Alison Meynert,Gabrielle Wheway,Lucas Fares-Taie,Holly A. Black,Rana Mitri-Frangieh,Catherine Faucon,Josseline Kaplan,Mitali Patel,Lisa McKie,Roly Megaw,Christos Gatsogiannis,Mai A. Mohamed,Stuart Aitken,Philippe Gautier, Finn R. Reinholt,Robert A. Hirst,Chris O'Callaghan,Ketil Heimdal,Mathieu Bottier,Estelle Escudier,Suzanne Crowley,Maria Descartes,Ethylin W. Jabs,Priti Kenia,Jeanne Amiel,Giacomo Maria Bacci,Claudia Calogero,Viviana Palazzo,Lucia Tiberi,Ulrike Bluemlein,Andrew Rogers,Jennifer A. Wambach,Daniel J. Wegner,Anne B. Fulton,Margaret Kenna,Margaret Rosenfeld,Ingrid A. Holm,Alan Quigley,Emma A. Hall,Laura C. Murphy,Diane M. Cassidy,Alex von Kriegsheim,Jean-Francois Papon,Laurent Pasquier,Marlene S. Murris,James D. Chalmers,Claire Hogg, Kenneth A. Macleod,Don S. Urquhart,Stefan Unger,Timothy J. Aitman,Serge Amselem,Margaret W. Leigh,Michael R. Knowles,Heymut Omran,Hannah M. Mitchison,Alan Brown,Joseph A. Marsh,Julie P. I. Welburn,Shih-Chieh Ti,Amjad Horani,Jean-Michel Rozet,Isabelle Perrault,Pleasantine Mill

SCIENCEno. 6694 (2024)

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Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights

Giacomo M Bacci,Elisa Marziali,Sara Bargiacchi,Michel Paques,Gianni Virgili,Pina Fortunato,Marine Durand,Camilla Rocca,Angelica Pagliazzi,Viviana Palazzo,Lucia Tiberi,Debora Vergani,Samuela Landini,Angela Peron,Rosangela Artuso,Bianca Pacini, Monica Stabile,Andrea Sodi,Roberto Caputo

Scientific reportsno. 1 (2024): 15454-15454

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X-linked Retinoschisis: Mutation Spectrum and Genotype-Phenotype Relationship in an Italian Pediatric Cohort

P. Fortunato,A. Pagliazzi,S. Bargiacchi, E. Marziali,A. Sodi, R. Caputo,I Passerini,E. Pelo,G. M. Bacci

OPHTHALMIC GENETICS（2023）

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A Multidisciplinary Approach to Inherited Retinal Dystrophies from Diagnosis to Initial Care: a Narrative Review with Inputs from Clinical Practice

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

Orphanet Journal of Rare Diseases（2023）

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The New Era of Therapeutic Strategies for the Treatment of Retinitis Pigmentosa: A Narrative Review of Pathomolecular Mechanisms for the Development of Cell-Based Therapies

Valentina Becherucci,Giacomo Maria Bacci,Elisa Marziali,Andrea Sodi,Franco Bambi,Roberto Caputo

Biomedicinesno. 10 (2023): 2656-2656

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