Obituary: Professor Dieter C Gruenert

by Novelli, Giuseppe, Sangiuolo, Federica C
Published in Cell Death Discov (2016)

Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

by Morini, Elena, Sangiuolo, Federica, Caporossi, Daniela, Novelli, Giuseppe, Amati, Francesca
Published in Front Genet (2015)

Human induced pluripotent stem cells for monogenic disease modelling and therapy

by Spitalieri, Paola, Talarico, Valentina Rosa, Murdocca, Michela, Novelli, Giuseppe, Sangiuolo, Federica
Published in World J Stem Cells (2016)

Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery

by De Masi, Claudia, Spitalieri, Paola, Murdocca, Michela, Novelli, Giuseppe, Sangiuolo, Federica
Published in Hum Genomics (2020)

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

by Daneshjoo, Omid, Salehi, Leila B., Pizzuti, Antonio, Novelli, Giuseppe, Sangiuolo, Federica
Published in Clin Case Rep (2020)

The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes

by Pierandrei, Silvia, Luchetti, Andrea, Sanchez, Massimo, Novelli, Giuseppe, Sangiuolo, Federica, Lucarelli, Marco
Published in Mol Ther Nucleic Acids (2016)

Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report

by Bulli, Cristina, Battistella, Pier Antonio, Bordignon, Marta, Bramanti, Placido, Novelli, Giuseppe, Sangiuolo, Federica
Published 2009

Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

by Conte, Chiara, D'Apice, Maria Rosaria, Rinaldi, Fabrizio, Gambardella, Stefano, Sangiuolo, Federica, Novelli, Giuseppe
Published 2011

Periodontal condition in growing subjects with Marfan Syndrome: a case-control study

by Venza, Nicolò, Danesi, Carlotta, Contò, Diego, Fabi, Francesco, Mampieri, Gianluca, Sangiuolo, Federica, Laganà, Giuseppina
Published in PeerJ (2019)

Sequence-specific modification of genomic DNA by small DNA fragments

by Gruenert, Dieter C., Bruscia, Emanuela, Novelli, Giuseppe, Colosimo, Alessia, Dallapiccola, Bruno, Sangiuolo, Federica, Goncz, Kaarin K.
Published 2003

Small Fragment Homologous Replacement: Evaluation of Factors Influencing Modification Efficiency in an Eukaryotic Assay System

by Luchetti, Andrea, Filareto, Antonio, Sanchez, Massimo, Ferraguti, Giampiero, Lucarelli, Marco, Novelli, Giuseppe, Sangiuolo, Federica, Malgieri, Arianna
Published 2012

SMA Human iPSC-Derived Motor Neurons Show Perturbed Differentiation and Reduced miR-335-5p Expression

by Murdocca, Michela, Ciafrè, Silvia Anna, Spitalieri, Paola, Talarico, Rosa Valentina, Sanchez, Massimo, Novelli, Giuseppe, Sangiuolo, Federica
Published in Int J Mol Sci (2016)

In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique

by Sangiuolo, Federica, Bruscia, Emanuela, Serafino, Annalucia, Nardone, Anna Maria, Bonifazi, Emanuela, Lais, Monica, Gruenert, Dieter C, Novelli, Giuseppe
Published 2002

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

by D'Apice, Maria Rosaria, Gambardella, Stefano, Bengala, Mario, Russo, Silvia, Nardone, Anna Maria, Lucidi, Vincenzina, Sangiuolo, Federica, Novelli, Giuseppe
Published 2004

A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA)

by Luchetti, Andrea, Ciafrè, Silvia Anna, Murdocca, Michela, Malgieri, Arianna, Masotti, Andrea, Sanchez, Massimo, Farace, Maria Giulia, Novelli, Giuseppe, Sangiuolo, Federica
Published in Int J Mol Sci (2015)

Early Hippocampal i-LTP and LOX-1 Overexpression Induced by Anoxia: A Potential Role in Neurodegeneration in NPC Mouse Model

by Lo Castro, Adriana, Murdocca, Michela, Pucci, Sabina, Zaratti, Anna, Greggi, Chiara, Sangiuolo, Federica, Tancredi, Virginia, Frank, Claudio, D’Arcangelo, Giovanna
Published in Int J Mol Sci (2017)

Pro-oncogenic action of LOX-1 and its splice variant LOX-1Δ4 in breast cancer phenotypes

by Pucci, Sabina, Polidoro, Chiara, Greggi, Chiara, Amati, Francesca, Morini, Elena, Murdocca, Michela, Biancolella, Michela, Orlandi, Augusto, Sangiuolo, Federica, Novelli, Giuseppe
Published in Cell Death Dis (2019)

Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) s...

by D’Apice, Maria Rosaria, De Dominicis, Angela, Murdocca, Michela, Amati, Francesca, Botta, Annalisa, Sangiuolo, Federica, Lattanzi, Giovanna, Federici, Massimo, Novelli, Giuseppe
Published in Acta Myol (2020)

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene

by Garaci, Francesco, Marsili, Luisa, Riant, Florence, Marziali, Simone, Cécillon, Michaelle, Pasquarelli, Roberto, Sangiuolo, Federica, Floris, Roberto, Novelli, Giuseppe, Tournier-Lasserve, Elisabeth, Brancati, Francesco
Published in Neuroradiol J (2015)

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

by Botta, Annalisa, Rossi, Giulia, Marcaurelio, Marzia, Fontana, Luana, D'Apice, Maria Rosaria, Brancati, Francesco, Massa, Roberto, G Monckton, Darren, Sangiuolo, Federica, Novelli, Giuseppe
Published in Eur J Hum Genet (2017)