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101

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

Botta, Annalisa, Rossi, Giulia, Marcaurelio, Marzia, Fontana, Luana, D'Apice, Maria Rosaria, Brancati, Francesco, Massa, Roberto, G Monckton, Darren, Sangiuolo, Federica, Novelli, Giuseppe

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 445 KB

english, 2016

102

Economic impact of remote monitoring after implantable defibrillators implantation in heart failure patients: an analysis from the EFFECT study

Capucci, Alessandro, De Simone, Antonio, Luzi, Mario, Calvi, Valeria, Stabile, Giuseppe, D’Onofrio, Antonio, Maffei, Simone, Leoni, Loira, Morani, Giovanni, Sangiuolo, Raffaele, Amellone, Claudia, Che

Journal:

Year:

2017

Language:

english

File:

PDF, 345 KB

english, 2017

103

A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation

Capuano, Rosamaria, Spitalieri, Paola, Talarico, Rosa Valentina, Domakoski, Ana Carolina, Catini, Alexandro, Paolesse, Roberto, Martinelli, Eugenio, Novelli, Giuseppe, Sangiuolo, Federica, Di Natale,

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 1.96 MB

english, 2017

104

The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female

Lanzolla, Giulia, Vancieri, Giuseppe, Lanciotti, Silvia, Sangiuolo, Federica, Menegatti, Elisa, Federici, Luca, Moretti, Costanzo, Brancati, Francesco

Journal:

Gynecological Endocrinology

Year:

2017

Language:

english

File:

PDF, 982 KB

english, 2017

105

Towards the pharmacogenomics of cystic fibrosis

Sangiuolo, Federica, D’Apice, Maria Rosaria, Bruscia, Emanuela, Lucidi, Vincenzina, Novelli, Giuseppe

Journal:

Pharmacogenomics

Year:

2002

Language:

english

File:

PDF, 233 KB

english, 2002

106

[IEEE 2017 ISOCS/IEEE International Symposium on Olfaction and Electronic Nose (ISOEN) - Montreal, QC, Canada (2017.5.28-2017.5.31)] 2017 ISOCS/IEEE International Symposium on Olfaction and Electronic Nose (ISOEN) - Identification of stem cells differentiation steps

Capuano, Rosamaria, Spitalieri, Paola, Valentina Talarico, Rosa, Carolina Domakoski, Ana, Catini, Alexandro, Paolesse, Roberto, Martinelli, Eugenio, Novelli, Giuseppe, Sangiuolo, Federica, Di Natale,

Year:

2017

Language:

english

File:

PDF, 985 KB

english, 2017

107

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing

Cascella, R, Strafella, C, Longo, G, Manzo, L, Ragazzo, M, De Felici, C, Gambardella, S, Marsella, L T, Novelli, G, Borgiani, P, Sangiuolo, F, Cusumano, A, Ricci, F, Giardina, E

Journal:

Year:

2017

Language:

english

File:

PDF, 154 KB

english, 2017

108

Nonvitamin K Antagonist Oral Anticoagulants Use in Patients with Atrial Fibrillation and Bioprosthetic Heart Valves/Prior Surgical Valve Repair: A Multicenter Clinical Practice Experience

Russo, Vincenzo, Attena, Emilio, Mazzone, Carmine, Esposito, Francesca, Parisi, Valentina, Bancone, Ciro, Rago, Anna, Nigro, Gerardo, Sangiuolo, Raffaele, D' Onofrio, Antonio

Journal:

Seminars in Thrombosis and Hemostasis

Year:

2018

Language:

english

File:

PDF, 112 KB

english, 2018

109

Cloning and molecular characterization of three Ubiquitin Fusion Degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus andDrosophila melanogaster

Ratti, A., Amati, F., Bozzali, M., Conti, E., Sangiuolo, F., Berloco, M., Palumbo, G., Botta, A., Pizzuti, A., Novelli, G., Dallapiccola, B.

Journal:

Cytogenetic and Genome Research

Year:

2001

Language:

english

File:

PDF, 335 KB

english, 2001

110

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

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

Journal:

Year:

2009

Language:

english

File:

PDF, 576 KB

english, 2009

111

A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family

Maroofian, Reza, Murdocca, Michela, Rezaei-Delui, Hossein, Nekooei, Amirhossein, Mojarad, Majid, Sangiuolo, Federica, Novelli, Giuseppe, Superti-Furga, Andrea, D’Apice, Maria Rosaria

Journal:

Clinical Dysmorphology

Year:

2018

Language:

english

File:

PDF, 205 KB

english, 2018

112

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

Brancati, Francesco, Camerota, Letizia, Colao, Emma, Vega-Warner, Virginia, Zhao, Xiangzhong, Zhang, Ruixiao, Bottillo, Irene, Castori, Marco, Caglioti, Alfredo, Sangiuolo, Federica, Novelli, Giuseppe

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.43 MB

english, 2018

113

Evidence for an Association between the SRD5A2 (Type II Steroid 5 α -Reductase) Locus and Prostate Cancer in Italian Patients

Margiotti, K., Sangiuolo, F., De Luca, A., Froio, F., Pearce, C. L., Ricci-Barbini, V., Micali, F., Bonafè, M., Franceschi, C., Dallapiccola, B., Novelli, G., Reichardt, J. K. V.

Journal:

Disease Markers

Year:

2000

Language:

english

File:

PDF, 1.11 MB

english, 2000

114

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

Luchetti, Andrea, Ciafrè, Silvia, Murdocca, Michela, Malgieri, Arianna, Masotti, Andrea, Sanchez, Massimo, Farace, Maria, Novelli, Giuseppe, Sangiuolo, Federica

Journal:

International Journal of Molecular Sciences

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

115

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

Murdocca, Michela, Ciafrè, Silvia, Spitalieri, Paola, Talarico, Rosa, Sanchez, Massimo, Novelli, Giuseppe, Sangiuolo, Federica

Journal:

International Journal of Molecular Sciences

Year:

2016

Language:

english

File:

PDF, 3.75 MB

english, 2016

116

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

Lo Castro, Adriana, Murdocca, Michela, Pucci, Sabina, Zaratti, Anna, Greggi, Chiara, Sangiuolo, Federica, Tancredi, Virginia, Frank, Claudio, D’Arcangelo, Giovanna

Journal:

International Journal of Molecular Sciences

Year:

2017

Language:

english

File:

PDF, 2.07 MB

english, 2017

117

Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2

Spitalieri, Paola, Talarico, Rosa V., Murdocca, Michela, Fontana, Luana, Marcaurelio, Marzia, Campione, Elena, Massa, Roberto, Meola, Giovanni, Serafino, Annalucia, Novelli, Giuseppe, Sangiuolo, Feder

Journal:

Frontiers in Physiology

Year:

2018

Language:

english

File:

PDF, 5.26 MB

english, 2018

118

Forensic Applications of Molecular Genetic Analysis: An Italian Collaborative Study on Paternity Testing by the Determination of Variable Number of Tandem Repeat DNA Polymorphisms

Gasparini, P., Mandich, P., Novelli, G., Bellone, E., Sangiuolo, F., De Stefano, F., Potenza, L., Trabetti, E., Marigo, M., Pignatti, P.F., Dallapiccola, B., Ajmar, F.

Journal:

Year:

1991

Language:

english

File:

PDF, 925 KB

english, 1991

119

Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR)

Sangiuolo, Federica

Journal:

Frontiers in Bioscience

Year:

2008

Language:

english

File:

PDF, 424 KB

english, 2008

120

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

Pucci, Sabina, Polidoro, Chiara, Greggi, Chiara, Amati, Francesca, Morini, Elena, Murdocca, Michela, Biancolella, Michela, Orlandi, Augusto, Sangiuolo, Federica, Novelli, Giuseppe

Journal:

Cell Death and Disease

Year:

2019

Language:

english

File:

PDF, 5.79 MB

english, 2019

121

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

Camerota,, Ritelli,, Wischmeijer,, Majore,, Cinquina,, Fortugno,, Monetta,, Gigante,, Hospital,, Sangiuolo,, Novelli,, Colombi,, Brancati,

Journal:

Year:

2019

Language:

english

File:

PDF, 972 KB

english, 2019

122

EP34 ROLE OF SPECIALIZED CENTRE AND TEAMWORK IN THE DIAGNOSIS OF MARFAN SYNDROME AND PREVENTION OF ACUTE AORTIC DISSECTION

Bertoldo, F., Pisano, C., Nardi, P., Donzelli, C., Laganà, G., Salehi, B., Sangiuolo, F.C., Bollero, P., De Maio, F., Mancino, R., Chiocchi, M., De Stefano, A., Cozza, P., Ruvolo, G., Novelli, G.

Journal:

Journal of Cardiovascular Medicine

Year:

2018

File:

PDF, 1.67 MB

2018

123

SARS-COV-2 and infectivity

Tresoldi, Ilaria, Sangiuolo, Carla Federica, Manzari, Vittorio, Modesti, Andrea

Journal:

Journal of Medical Virology

Year:

2020

Language:

english

File:

PDF, 165 KB

english, 2020

124

Interference of levamisole with inhibition of E-rosette formation by Hodgkin's disease and systemic lupus erythematosus cytotoxic sera

Del Giacco, GS, Tognella, S, Leone, AL, Locci, F, Cornaglia, P, Sangiuolo, A, Grifoni, V

Journal:

Year:

1979

File:

PDF, 577 KB

1979

125

A New System for Assessing Visual Disability Using a Digital Visor

Sangiuolo, Raffaele, Amore, Filippo, Bacci, Mauro, Brusini, Paolo, Cruciani, Filippo, Gualtieri, Giacomo, Lancia, Massimo, Sangiuolo, Giulia, Sangiuolo, Mario

Journal:

Journal of Clinical Medicine

Year:

2020

File:

PDF, 529 KB

2020

126

Releasing Burn-Induced Compartment Syndrome by Enzymatic Escharotomy-Debridement: A Case Study

Mataro, Ilaria, Lanza, Anna, Di Franco, Sveva, Di Franco, Livia, Sangiuolo, Mariella, Notaro, Maria, dâAlessio, Roberto, Villani, Romolo

Journal:

Journal of Burn Care & Research

Year:

2020

File:

PDF, 514 KB

2020

127

Carrier frequency of CFTR variants in the nonâCaucasian populations by genome aggregation database (gnomAD)âbased analysis

Nappo, Stefania, Mannucci, Liliana, Novelli, Giuseppe, Sangiuolo, Federica, D'Apice, Maria Rosaria, Botta, Annalisa

Journal:

Annals of Human Genetics

Year:

2020

File:

PDF, 1.07 MB

2020

128

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

De Masi, Claudia, Spitalieri, Paola, Murdocca, Michela, Novelli, Giuseppe, Sangiuolo, Federica

Journal:

Year:

2020

File:

PDF, 810 KB

2020

129

Specific miRNA and Gene Deregulation Characterize the Increased Angiogenic Remodeling of Thoracic Aneurysmatic Aortopathy in Marfan Syndrome

DâAmico, Federico, Doldo, Elena, Pisano, Calogera, Scioli, Maria Giovanna, Centofanti, Federica, Proietti, Giulia, Falconi, Mattia, Sangiuolo, Federica, Ferlosio, Amedeo, Ruvolo, Giovanni, Orlandi,

Journal:

International Journal of Molecular Sciences

Year:

2020

File:

PDF, 4.80 MB

2020

130

P1447Use of novel local impedance-based catheter in typical right atrial flutter ablation: preliminary data from a multicenter Italian study

Ducceschi, V, Pandozi, C, Arestia, A, Rossi, L, Bencardino, G, Segreti, L, Schillaci, V, Auricchio, C, Aperuta, F, Malacrida, M, Sangiuolo, R

Journal:

Year:

2020

File:

PDF, 159 KB

2020