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

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

by Giancarlo Iarossi, Valerio Marino, Paolo Enrico Maltese, Leonardo Colombo, Fabiana D’Esposito, Elena Manara, Kristjana Dhuli, Antonio Mattia Modarelli, Gilda Cennamo, Adriano Magli, Daniele Dell’Orco, Matteo Bertelli
Published 2021-12-01

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre...

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

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

by Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli
Published 2019-06-01

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

A very early diagnosis of Alstrӧm syndrome by next generation sequencing

by Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli
Published 2020-09-01

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

<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

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

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing

by Rossella Cannarella, Vincenza Precone, Giulia Guerri, Gian Maria Busetto, Gian Carlo Di Renzo, Sandro Gerli, Elena Manara, Astrit Dautaj, Matteo Bertelli, Aldo Eugenio Calogero
Published 2020-10-01

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

<i>USH2A</i>-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies

by Benedetto Falsini, Giorgio Placidi, Elisa De Siena, Maria Cristina Savastano, Angelo Maria Minnella, Martina Maceroni, Giulia Midena, Lucia Ziccardi, Vincenzo Parisi, Matteo Bertelli, Paolo Enrico Maltese, Pietro Chiurazzi, Stanislao Rizzo
Published 2021-02-01

The transcriptome profile of human trisomy 21 blood cells

by Francesca Antonaros, Rossella Zenatelli, Giulia Guerri, Matteo Bertelli, Chiara Locatelli, Beatrice Vione, Francesca Catapano, Alice Gori, Lorenza Vitale, Maria Chiara Pelleri, Giuseppe Ramacieri, Guido Cocchi, Pierluigi Strippoli, Maria Caracausi, Allison Piovesan
Published 2021-05-01

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

by Vladimir Frecer, Giancarlo Iarossi, Anna Paola Salvetti, Paolo Enrico Maltese, Giulia Delledonne, Marta Oldani, Giovanni Staurenghi, Benedetto Falsini, Angelo Maria Minnella, Lucia Ziccardi, Adriano Magli, Leonardo Colombo, Fabiana D’Esposito, Jan Miertus, Francesco Viola, Marcella Attanasio, Emilia Maggio, Matteo Bertelli
Published 2019-10-01