Ineffective Erythropoiesis in β-Thalassaemia: Key Steps and Therapeutic Options by Drugs

by Filomena Longo, Andrea Piolatto, Giovanni Battista Ferrero, Antonio Piga
Published 2021-07-01

Syndromic Disorders Caused by Disturbed Human Imprinting

by Diana Carli, Evelise Riberi, Giovanni Battista Ferrero, Alessandro Mussa
Published 2020-03-01

Pharmacological and clinical evaluation of deferasirox formulations for treatment tailoring

by Andrea Piolatto, Paola Berchialla, Sarah Allegra, Silvia De Francia, Giovanni Battista Ferrero, Antonio Piga, Filomena Longo
Published 2021-06-01

Esophageal duplication cyst in newborn

by Salvatore Garofalo, Jürgen Schleef, Riccardo Guanà, Liana Suteu, Maria Grazia Cortese, Diana Carli, Giovanni Battista Ferrero, Fabrizio Gennari
Published 2020-02-01

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

by Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, Diana Carli, Lisa Pavinato, Geoffroy Delplancq, Paul Kuentz, Alfredo Brusco
Published 2020-10-01

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith–Wiedemann Syndrome

by Alessandro Mussa, Valentina Pia Ciuffreda, Pina Sauro, Veronica Pagliardini, Severo Pagliardini, Diana Carli, Jennifer M. Kalish, Franca Fagioli, Enza Pavanello, Giovanni Battista Ferrero
Published 2019-01-01

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

by Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello, on behalf of their respective Scientific Societies
Published 2017-11-01

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

by Bianca Ho, Keelin Greenlaw, Abeer Al Tuwaijri, Sanny Moussette, Francisco Martínez, Elisa Giorgio, Alfredo Brusco, Giovanni Battista Ferrero, Natália D. Linhares, Eugênia R. Valadares, Marta Svartman, Vera M. Kalscheuer, Germán Rodríguez Criado, Catherine Laprise, Celia M. T. Greenwood, Anna K. Naumova
Published 2018-02-01

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

by Milena Crippa, Milena Crippa, Maria Teresa Bonati, Luciano Calzari, Chiara Picinelli, Cristina Gervasini, Alessandra Sironi, Alessandra Sironi, Ilaria Bestetti, Ilaria Bestetti, Sara Guzzetti, Simonetta Bellone, Angelo Selicorni, Alessandro Mussa, Andrea Riccio, Andrea Riccio, Giovanni Battista Ferrero, Silvia Russo, Lidia Larizza, Palma Finelli, Palma Finelli
Published 2019-10-01

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

by Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
Published 2017-07-01

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

by Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
Published 2019-07-01