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

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

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

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

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

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

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

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

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

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

Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia

by Mahmut C. Ergoren, Erdal Eren, Elena Manara, Stefano Paolacci, Pinar Tulay, Sebnem O. Sag, Matteo Bertelli, Gamze Mocan, Sehime Gulsun Temel
Published 2021-05-01

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment

by Stefano Paolacci, Aysha Karim Kiani, Elena Manara, Tommaso Beccari, Maria Rachele Ceccarini, Liborio Stuppia, Pietro Chiurazzi, Laura Dalla Ragione, Matteo Bertelli
Published 2020-07-01

Molecular Aspects of Regional Pain Syndrome

by Manuela Baronio, Hajra Sadia, Stefano Paolacci, Domenico Prestamburgo, Danilo Miotti, Vittorio A. Guardamagna, Giuseppe Natalini, Stephanie G. B. Sullivan, Matteo Bertelli
Published 2020-01-01

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

by Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara, Alisia Costantini, Sabrina Benedetti, Darina Ďurovčíková, Juraj Krajcovic, Matteo Bertelli
Published 2021-04-01

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations

by Stefano Paolacci, Raul Ettore Mattassi, Giuseppe Marceddu, Elena Manara, Alessandra Zulian, Giulia Guerri, Luca De Antoni, Carlo Arduino, Daniela Cavalca, Matteo Bertelli
Published 2020-10-01

Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy

by Marco Piccardi, Antonello Fadda, Francesco Martelli, Dario Marangoni, Adriano Magli, Angelo M. Minnella, Matteo Bertelli, Stefano Di Marco, Silvia Bisti, Benedetto Falsini
Published 2019-10-01

Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report

by Angelo Maria Minnella, Valeria Pagliei, Maria Cristina Savastano, Matteo Federici, Matteo Bertelli, Paolo Enrico Maltese, Giorgio Placidi, Giovanni Corbo, Benedetto Falsini, Aldo Caporossi
Published 2018-10-01

Corrigendum to “Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy”

by Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Luca Buzzonetti, Lucia Ziccardi
Published 2017-01-01