Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel

by Vincenza Precone, Rossella Cannarella, Stefano Paolacci, Gian Maria Busetto, Tommaso Beccari, Liborio Stuppia, Gerolamo Tonini, Alessandra Zulian, Giuseppe Marceddu, Aldo E. Calogero, Matteo Bertelli, Matteo Bertelli, Matteo Bertelli
Published 2021-01-01

Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population

by Maria Rachele Ceccarini, Maria Rachele Ceccarini, Simona Fittipaldi, Cinzia Ciccacci, Erika Granese, Federica Centofanti, Laura Dalla Ragione, Matteo Bertelli, Matteo Bertelli, Tommaso Beccari, Tommaso Beccari, Annalisa Botta
Published 2022-03-01

Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations

by Sara Missaglia, Daniela Tavian, Sandro Michelini, Paolo Enrico Maltese, Andrea Bonanomi, Matteo Bertelli
Published 2021-04-01

<i>FOXC2</i> Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation

by Daniela Tavian, Sara Missaglia, Sandro Michelini, Paolo Enrico Maltese, Elena Manara, Alvaro Mordente, Matteo Bertelli
Published 2020-07-01

Potential therapeutic role of pharmacological sympathectomy in Martorell ulcer

by Mirko Baglivo, Manuela Baronio, Nina Arnelle Dieumo Ngongan, Stefano Romagnoli, Raffaele De Gaudio, Matteo Bertelli
Published 2022-01-01

Breakdown of Symbiosis in Radiation-Induced Oral Mucositis

by Gianluca Ingrosso, Simonetta Saldi, Simona Marani, Alicia Y. W. Wong, Matteo Bertelli, Cynthia Aristei, Teresa Zelante
Published 2021-04-01

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

by Leonardo Colombo, Giovanni Montesano, Barbara Sala, Fabio Patelli, Paolo Maltese, Andi Abeshi, Matteo Bertelli, Luca Rossetti
Published 2018-06-01

Paraneoplastic Neurological Syndromes: Study of Prevalence in a Province of the Lombardy Region, Italy

by Lorenzo Lorusso, Vincenza Precone, Daniela Ferrari, Gaelle K. Ngonga, Antonio Giampiero Russo, Stefano Paolacci, Matteo Bertelli
Published 2020-09-01

Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report

by Federica Barbagallo, Rossella Cannarella, Matteo Bertelli, Andrea Crafa, Sandro La Vignera, Rosita A. Condorelli, Aldo E. Calogero
Published 2021-10-01

Analysis of 29 Targeted Genes for Non-Obstructive Azoospermia: The Relationship between Genetic Testing and Testicular Histology

by Rossella Cannarella, Matteo Bertelli, Rosita A. Condorelli, Marija Vilaj, Sandro La Vignera, Davor Jezek, Aldo E. Calogero
Published 2023-04-01

Alpha-Mannosidosis: Therapeutic Strategies

by Maria Rachele Ceccarini, Michela Codini, Carmela Conte, Federica Patria, Samuela Cataldi, Matteo Bertelli, Elisabetta Albi, Tommaso Beccari
Published 2018-05-01

Multimodal Study of <i>PRPH2</i> Gene-Related Retinal Phenotypes

by Giulio Antonelli, Mariacristina Parravano, Lucilla Barbano, Eliana Costanzo, Matteo Bertelli, Maria Chiara Medori, Vincenzo Parisi, Lucia Ziccardi
Published 2022-07-01

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals

by Paolo Enrico Maltese, Leonardo Colombo, Salvatore Martella, Luca Rossetti, Said El Shamieh, Lorenzo Sinibaldi, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppè, Luca Buzzonetti, Benedetto Falsini, Benedetto Falsini, Pietro Chiurazzi, Giorgio Placidi, Benedetta Tanzi, Matteo Bertelli, Matteo Bertelli, Giancarlo Iarossi
Published 2022-06-01

Potential role of microbiome in Chronic Fatigue Syndrome/Myalgic Encephalomyelits (CFS/ME)

by Giuseppe Francesco Damiano Lupo, Gabriele Rocchetti, Luigi Lucini, Lorenzo Lorusso, Elena Manara, Matteo Bertelli, Edoardo Puglisi, Enrica Capelli
Published 2021-03-01

Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure

by Rossella Cannarella, Rosita A Condorelli, Stefano Paolacci, Federica Barbagallo, Giulia Guerri, Matteo Bertelli, Sandro La Vignera, Aldo E Calogero
Published 2021-01-01

Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease

by Edoardo Abed, Giorgio Placidi, Luigi Calandriello, Marco Piccardi, Francesca Campagna, Matteo Bertelli, Angelo Maria Minnella, Maria Cristina Savastano, Benedetto Falsini
Published 2017-01-01

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

by Amedeo Biasi, Valerio Marino, Giuditta Dal Cortivo, Paolo Enrico Maltese, Antonio Mattia Modarelli, Matteo Bertelli, Leonardo Colombo, Daniele Dell’Orco
Published 2021-10-01

Impaired Ca²⁺ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells

by Valerio Marino, Giuditta Dal Cortivo, Paolo Enrico Maltese, Giorgio Placidi, Elisa De Siena, Benedetto Falsini, Matteo Bertelli, Daniele Dell’Orco
Published 2021-04-01

Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus

by Rossella Cannarella, Eugenia Tiziana Maniscalchi, Rosita Angela Condorelli, Marina Scalia, Giulia Guerri, Sandro La Vignera, Matteo Bertelli, Aldo Eugenio Calogero
Published 2020-08-01

Development of Salmon Sperm DNA/Regenerated Silk Bio-Based Films for Biomedical Studies on Human Keratinocyte HaCaT Cells under Solar Spectrum

by Maria Rachele Ceccarini, Francesca Ripanti, Veronica Raggi, Alessandro Paciaroni, Caterina Petrillo, Lucia Comez, Kevin Donato, Matteo Bertelli, Tommaso Beccari, Luca Valentini
Published 2023-05-01