Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene

by Liliana Guerra, Fabio Bergamo, Maria Rosaria D'Apice, Francesco Angelucci, Stefano di Girolamo, Letizia Camerota, Rosanna Monetta, Giorgio Annessi, Daniele Castiglia, Giuseppe Novelli, Mauro Paradisi, Francesco Brancati
Published 2019-09-01

Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

by Antonio Novelli, Michela Biancolella, Paola Borgiani, Dario Cocciadiferro, Vito Luigi Colona, Maria Rosaria D’Apice, Paola Rogliani, Salvatore Zaffina, Francesca Leonardis, Andrea Campana, Massimiliano Raponi, Massimo Andreoni, Sandro Grelli, Giuseppe Novelli
Published 2020-09-01

Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients

by Francesca Amati, Chiara Vancheri, Andrea Latini, Vito Luigi Colona, Sandro Grelli, Maria Rosaria D'Apice, Emanuela Balestrieri, Chiara Passarelli, Antonella Minutolo, Sara Loddo, Andrea Di Lorenzo, Paola Rogliani, Massimo Andreoni, Giuseppe Novelli
Published 2020-10-01

The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence

by Romina Burla, Mariateresa Carcuro, Mattia La Torre, Federica Fratini, Marco Crescenzi, Maria Rosaria D'Apice, Paola Spitalieri, Grazia Daniela Raffa, Letizia Astrologo, Giovanna Lattanzi, Enrico Cundari, Domenico Raimondo, Annamaria Biroccio, Maurizio Gatti, Isabella Saggio
Published 2016-01-01

Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture

by Valentina Grosso, Luca Marcolungo, Simone Maestri, Massimiliano Alfano, Denise Lavezzari, Barbara Iadarola, Alessandro Salviati, Alessandro Salviati, Barbara Mariotti, Annalisa Botta, Maria Rosaria D’Apice, Giuseppe Novelli, Giuseppe Novelli, Giuseppe Novelli, Massimo Delledonne, Massimo Delledonne, Marzia Rossato, Marzia Rossato
Published 2021-09-01

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

by Annalisa Botta, Virginia Veronica Visconti, Luana Fontana, Paola Bisceglia, Paola Bisceglia, Mario Bengala, Roberto Massa, Ilaria Bagni, Rosanna Cardani, Federica Sangiuolo, Federica Sangiuolo, Giovanni Meola, Giovanni Meola, Giovanni Antonini, Antonio Petrucci, Elena Pegoraro, Maria Rosaria D’Apice, Giuseppe Novelli, Giuseppe Novelli
Published 2021-06-01

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

by Cristina Cappelletti, Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano, Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi, Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi
Published 2020-06-01

Workload measurement for molecular genetics laboratory: A survey study.

by Enrico Tagliafico, Isabella Bernardis, Marina Grasso, Maria Rosaria D'Apice, Cristina Lapucci, Annalisa Botta, Daniela Francesca Giachino, Maria Marinelli, Paola Primignani, Silvia Russo, Ilaria Sani, Manuela Seia, Sergio Fini, Paola Rimessi, Elena Tenedini, Anna Ravani, Maurizio Genuardi, Alessandra Ferlini, Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU
Published 2018-01-01

European lipodystrophy registry: background and structure

by Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, Martin Wabitsch
Published 2020-01-01