Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

by Emanuele Agolini, Roberto Chimenz, Danilo Fintini, Vito Guarnieri, Laura Guazzarotti, Stefano Mora, Leonardo Salviati, Giovanna Weber
Published 2021-04-01

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

by Maria Giovanna Paglietti, Claudio Cherchi, Federica Porcaro, Emanuele Agolini, Alessandra Schiavino, Francesca Petreschi, Antonio Novelli, Renato Cutrera
Published 2019-04-01

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

by Emanuela Ponzi, Mattia Gentile, Emanuele Agolini, Emilia Matera, Roberto Palumbi, Antonia Lucia Buonadonna, Antonia Peschechera, Alessandra Gabellone, Maria Fatima Antonucci, Lucia Margari
Published 2020-07-01

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

by Gloria Pelizzo, Mirella Collura, Aurora Puglisi, Maria Pia Pappalardo, Emanuele Agolini, Antonio Novelli, Maria Piccione, Caterina Cacace, Rossana Bussani, Giovanni Corsello, Valeria Calcaterra
Published 2019-03-01

Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

by Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Published 2020-12-01

DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

by Anna Maria Caroleo, Maria Antonietta De Ioris, Luigi Boccuto, Luigi Boccuto, Iside Alessi, Giada Del Baldo, Antonella Cacchione, Emanuele Agolini, Martina Rinelli, Annalisa Serra, Andrea Carai, Angela Mastronuzzi
Published 2021-01-01

BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas

by Francesca Del Bufalo, Giulia Ceglie, Antonella Cacchione, Iside Alessi, Giovanna Stefania Colafati, Andrea Carai, Francesca Diomedi-Camassei, Emmanuel De Billy, Emanuele Agolini, Angela Mastronuzzi, Franco Locatelli, Franco Locatelli
Published 2018-11-01

COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

by Andrea Latini, Emanuele Agolini, Antonio Novelli, Paola Borgiani, Rosalinda Giannini, Paolo Gravina, Andrea Smarrazzo, Mario Dauri, Massimo Andreoni, Paola Rogliani, Sergio Bernardini, Manuela Helmer‑Citterich, Michela Biancolella, Giuseppe Novelli
Published 2020-08-01

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

by Giada Del Baldo, Roberto Carta, Iside Alessi, Pietro Merli, Emanuele Agolini, Martina Rinelli, Luigi Boccuto, Luigi Boccuto, Giuseppe Maria Milano, Annalisa Serra, Andrea Carai, Franco Locatelli, Franco Locatelli, Angela Mastronuzzi
Published 2021-02-01

Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome

by Giuseppe Petruzzellis, Diletta Valentini, Francesca del Bufalo, Giulia Ceglie, Andrea Carai, Giovanna Stefania Colafati, Emanuele Agolini, Francesca Diomedi-Camassei, Tiziana Corsetti, Iside Alessi, Angela Mastronuzzi, Franco Locatelli, Franco Locatelli, Antonella Cacchione
Published 2019-04-01

Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas

by Giulia Ceglie, Giada Del Baldo, Emanuele Agolini, Martina Rinelli, Antonella Cacchione, Francesca Del Bufalo, Maria Vinci, Roberto Carta, Luigi Boccuto, Luigi Boccuto, Evelina Miele, Angela Mastronuzzi, Franco Locatelli, Franco Locatelli, Andrea Carai
Published 2020-11-01

Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Re-view

by Marco Ranalli, Alessandra Boni, Anna Maria Caroleo, Giada Del Baldo, Martina Rinelli, Emanuele Agolini, Sabrina Rossi, Evelina Miele, Giovanna Stefania Colafati, Luigi Boccuto, Iside Alessi, Maria Antonietta De Ioris, Antonella Cacchione, Rossella Capolino, Andrea Carai, Sabina Vennarini, Angela Mastronuzzi
Published 2021-04-01

Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era

by Roberto Carta, Giada Del Baldo, Evelina Miele, Agnese Po, Zein Mersini Besharat, Francesca Nazio, Giovanna Stefania Colafati, Eleonora Piccirilli, Emanuele Agolini, Martina Rinelli, Mariachiara Lodi, Antonella Cacchione, Andrea Carai, Luigi Boccuto, Luigi Boccuto, Elisabetta Ferretti, Franco Locatelli, Franco Locatelli, Angela Mastronuzzi
Published 2020-10-01

Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis

by Alessandra Boni, Marco Ranalli, Giada Del Baldo, Roberto Carta, Mariachiara Lodi, Emanuele Agolini, Martina Rinelli, Diletta Valentini, Sabrina Rossi, Viola Alesi, Antonella Cacchione, Evelina Miele, Iside Alessi, Anna Maria Caroleo, Giovanna Stefania Colafati, Maria Antonietta De Ioris, Luigi Boccuto, Mario Balducci, Andrea Carai, Angela Mastronuzzi
Published 2021-02-01

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

by Mariachiara Lodi, Luigi Boccuto, Andrea Carai, Antonella Cacchione, Evelina Miele, Giovanna Stefania Colafati, Francesca Diomedi Camassei, Luca De Palma, Alessandro De Benedictis, Elisabetta Ferretti, Giuseppina Catanzaro, Agnese Pò, Alessandro De Luca, Martina Rinelli, Francesca Romana Lepri, Emanuele Agolini, Marco Tartaglia, Franco Locatelli, Angela Mastronuzzi
Published 2020-08-01

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

by Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Published 2021-06-01

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

by Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj
Published 2021-04-01

Inhibition of HECT E3 ligases as potential therapy for COVID-19

by Giuseppe Novelli, Jing Liu, Michela Biancolella, Tonino Alonzi, Antonio Novelli, J. J. Patten, Dario Cocciadiferro, Emanuele Agolini, Vito Luigi Colona, Barbara Rizzacasa, Rosalinda Giannini, Benedetta Bigio, Delia Goletti, Maria Rosaria Capobianchi, Sandro Grelli, Justin Mann, Trevor D. McKee, Ke Cheng, Fatima Amanat, Florian Krammer, Andrea Guarracino, Gerardo Pepe, Carlo Tomino, Yacine Tandjaoui-Lambiotte, Yurdagul Uzunhan, Sarah Tubiana, Jade Ghosn, COVID Human Genetic Effort, French COVID Cohort Study Group, CoV-Contact Cohort, Luigi D. Notarangelo, Helen C. Su, Laurent Abel, Aurélie Cobat, Gai Elhanan, Joseph J. Grzymski, Andrea Latini, Sachdev S. Sidhu, Suresh Jain, Robert A. Davey, Jean-Laurent Casanova, Wenyi Wei, Pier Paolo Pandolfi
Published 2021-03-01