Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature

by Annalisa Mencarelli, Paolo Prontera, Gabriela Stangoni, Elisabetta Mencaroni, Nicola Principi, Susanna Esposito
Published 2017-10-01

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma

by Annalisa Mencarelli, Paolo Prontera, Amedea Mencarelli, Daniela Rogaia, Gabriela Stangoni, Massimiliano Cecconi, Susanna Esposito
Published 2018-10-01

Predictors of surgical outcomes of retroperitoneal laparoscopic partial nephrectomy

by Carmine Sciorio, Pier Paolo Prontera, Salvatore Scuzzarella, Paolo Verze, Lorenzo Spirito, Lorenzo Romano, Alberto Trinchieri
Published 2020-10-01

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the <i>AMN</i> Gene: A Case Report

by Alessandra Pacitto, Paolo Prontera, Gabriela Stangoni, Maurizio Stefanelli, Stefania Ceppi, Carla Cerri, Grazia Gurdo, Annalisa Mencarelli, Susanna Esposito
Published 2019-01-01

A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy

by Valentina Rapaccini, Susanna Esposito, Francesco Strinati, Mariella Allegretti, Elisabetta Manfroi, Francesco Miconi, Mariabernarda Pitzianti, Paolo Prontera, Nicola Principi, Augusto Pasini
Published 2018-07-01

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

by Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni
Published 2017-09-01

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri–Weill Dyschondrosteosis

by Laura Lucchetti, Paolo Prontera, Amedea Mencarelli, Amedea Mencarelli, Ester Sallicandro, Annalisa Mencarelli, Marta Cofini, Alberto Leonardi, Gabriela Stangoni, Laura Penta, Susanna Esposito
Published 2018-04-01

Oncological and functional outcomes of extraperitoneal laparoscopic radical prostatectomy: An 18-years, single-center experience

by francesco saverio grossi, Emanuele Utano, Paolo Minafra, Pier Paolo Prontera, Francesco Schiralli, Antonio De Cillis, Evangelista Martinelli, Marco Lattarulo, Meri Luka, Antonio Carrieri, Angelo D’Elia
Published 2021-09-01

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

by Catia Cavicchi, Chiara Chilleri, Antonella Fioravanti, Lorenzo Ferri, Francesco Ripandelli, Cinzia Costa, Paolo Calabresi, Paolo Prontera, Francesca Pochiero, Elisabetta Pasquini, Silvia Funghini, Giancarlo la Marca, Maria Alice Donati, Amelia Morrone
Published 2018-01-01

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in <i>LTBP3</i>

by Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara, Alberto Verrotti, Stefania Troiani, Giuseppe Merla, Marco Tartaglia, Paolo Prontera
Published 2021-09-01

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

by Kathleen Rooney, Michael A. Levy, Sadegheh Haghshenas, Jennifer Kerkhof, Daniela Rogaia, Maria Giovanna Tedesco, Valentina Imperatore, Amedea Mencarelli, Gabriella Maria Squeo, Eleonora Di Venere, Giuseppe Di Cara, Alberto Verrotti, Giuseppe Merla, Matthew L. Tedder, Barbara R. DuPont, Bekim Sadikovic, Paolo Prontera
Published 2021-08-01

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

by Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini
Published 2021-01-01