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1

Evaluation of damaging effects of splicing mutations: Validation of an in vitro method for diagnostic laboratories

Di Resta, Chiara, Manzoni, Martina, Zoni Berisso, Massimo, Siciliano, Gabriele, Benedetti, Sara, Ferrari, Maurizio

Journal:

Clinica Chimica Acta

Year:

2014

Language:

english

File:

PDF, 2.05 MB

english, 2014

2

Pharmacogenomics education in medical and pharmacy schools: conclusions of a global survey

Karas Kuželički, Nataša, Prodan Žitnik, Irena, Gurwitz, David, Llerena, Adrian, Cascorbi, Ingolf, Siest, Sofia, Simmaco, Maurizio, Ansari, Marc, Pazzagli, Mario, Di Resta, Chiara, Brandslund, Ivan, Sc

Journal:

Pharmacogenomics

Year:

2019

Language:

english

File:

PDF, 667 KB

english, 2019

3

Postpartum ovarian vein thrombosis with simultaneous pyelocaliectasis: diagnosis and follow-up by MR imaging. Case report and literature review

Michele Scialpi, Arcangelo Di Maggio, Giovanni Trisciuzzi, Maria Chiara Resta, Luciano Lupattelli, Antonio Rotondo

Journal:

Emergency Radiology

Year:

2003

Language:

english

File:

PDF, 237 KB

english, 2003

4

Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy

Chiara Di Resta, Paola Ambrosi, Giulia Curia, Andrea Becchetti

Journal:

European Journal of Pharmacology

Year:

2010

Language:

english

File:

PDF, 546 KB

english, 2010

5

Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, Fausta Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqual

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 402 KB

english, 2006

6

Translating genes into health

Kricka, Larry J, Di Resta, Chiara

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 106 KB

english, 2012

7

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

Sommariva, Elena, Pappone, Carlo, Martinelli Boneschi, Filippo, Di Resta, Chiara, Rosaria Carbone, Maria, Salvi, Erika, Vergara, Pasquale, Sala, Simone, Cusi, Daniele, Ferrari, Maurizio, Benedetti, Sa

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 657 KB

english, 2013

8

Segmentation of cardiac magnetic resonance cine images of single ventricle: including or excluding the accessorial ventricle?

Secchi, Francesco, Resta, Elda Chiara, Di Leo, Giovanni, Petrini, Marcello, Messina, Carmelo, Carminati, Mario, Sardanelli, Francesco

Journal:

The International Journal of Cardiovascular Imaging

Year:

2014

Language:

english

File:

PDF, 905 KB

english, 2014

9

Cardiac magnetic resonance before and after percutaneous pulmonary valve implantation

Secchi, Francesco, Resta, Elda Chiara, Piazza, Luciane, Butera, Gianfranco, Di Leo, Giovanni, Carminati, Mario, Sardanelli, Francesco

Journal:

La Radiologia Medica

Year:

2014

Language:

english

File:

PDF, 611 KB

english, 2014

10

Implementation of a companion diagnostic in the clinical laboratory: The BRAF example in melanoma

Mancini, Irene, Pinzani, Pamela, Simi, Lisa, Brandslund, Ivan, Vermeersch, Pieter, Di Resta, Chiara, Schwab, Matthias, Marc, Janja, van Schaik, Ron, Pazzagli, Mario

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 1.54 MB

english, 2015

11

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

Carrera, Paola, Di Resta, Chiara, Volonteri, Chiara, Castiglioni, Emanuela, Bonfiglio, Silvia, Lazarevic, Dejan, Cittaro, Davide, Stupka, Elia, Ferrari, Maurizio, Somaschini, Marco

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 378 KB

english, 2015

12

Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe

Malentacchi, Francesca, Mancini, Irene, Brandslund, Ivan, Vermeersch, Pieter, Schwab, Matthias, Marc, Janja, van Schaik, Ron H.N., Siest, Gerard, Theodorsson, Elvar, Pazzagli, Mario, Di Resta, Chiara,

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2015

Language:

english

File:

PDF, 466 KB

english, 2015

13

Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe

Malentacchi, Francesca, Mancini, Irene, Brandslund, Ivan, Vermeersch, Pieter, Schwab, Matthias, Marc, Janja, van Schaik, Ron H.N., Siest, Gerard, Theodorsson, Elvar, Pazzagli, Mario, Di Resta, Chiara,

Journal:

Drug Metabolism and Personalized Therapy

Year:

2015

Language:

english

File:

PDF, 945 KB

english, 2015

14

High throughput genetic characterization of a cohort of brugada syndrome patients

Di Resta, Chiara, Pietrelli, Alessandro, Sala, Simone, Della Bella, Paolo, De Bellis, Gianluca, Ferrari, Maurizio, Bordoni, Roberta, Benedetti, Sara

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 335 KB

english, 2015

15

Genetic factors predisposing to bronchopulmonary dysplasia. A pilot study by exome sequencing and pathways analysis

Marco Somaschini,Chiara Di Resta,Chiara Volonteri…

Journal:

Italian Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 309 KB

english, 2015

16

Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis

Tosetti, Valentina, Sassone, Jenny, Ferri, Anna L. M., Taiana, Michela, Bedini, Gloria, Nava, Sara, Brenna, Greta, Di Resta, Chiara, Pareyson, Davide, Di Giulio, Anna Maria, Carelli, Stephana, Parati,

Journal:

Year:

2017

Language:

english

File:

PDF, 6.32 MB

english, 2017

17

Personalized laboratory medicine: a patient-centered future approach

Prodan Žitnik, Irena, Černe, Darko, Mancini, Irene, Simi, Lisa, Pazzagli, Mario, Di Resta, Chiara, Podgornik, Helena, Repič Lampret, Barbka, Trebušak Podkrajšek, Katarina, Sipeky, Csilla, van Schaik,

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2018

Language:

english

File:

PDF, 245 KB

english, 2018

18

A pediatric neurologic assessment score may drive the eculizumab-based treatment of Escherichia coli-related hemolytic uremic syndrome with neurological involvement

Giordano, Paolo, Netti, Giuseppe Stefano, Santangelo, Luisa, Castellano, Giuseppe, Carbone, Vincenza, Torres, Diletta Domenica, Martino, Marida, Sesta, Michela, Di Cuonzo, Franca, Resta, Maria Chiara,

Journal:

Pediatric Nephrology

Year:

2018

Language:

english

File:

PDF, 1.14 MB

english, 2018

19

Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients

Galbiati, Silvia, Damin, Francesco, Burgio, Valentina, Brisci, Angela, Soriani, Nadia, Belcastro, Bernadette, Di Resta, Chiara, Gianni, Luca, Chiari, Marcella, Ronzoni, Monica, Ferrari, Maurizio

Journal:

Clinica Chimica Acta

Year:

2019

Language:

english

File:

PDF, 1.76 MB

english, 2019

20

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

Monasky, Michelle M., Micaglio, Emanuele, Ciconte, Giuseppe, Benedetti, Sara, Di Resta, Chiara, Vicedomini, Gabriele, Borrelli, Valeria, Ghiroldi, Andrea, Piccoli, Marco, Anastasia, Luigi, Santinelli,

Journal:

Frontiers in Physiology

Year:

2019

Language:

english

File:

PDF, 2.52 MB

english, 2019

21

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation

Longo, Fabiana, Benedetti, Sara, Zambon, Alberto A, Sora, Maria Grazia Natali, Di Resta, Chiara, De Ritis, Daniele, Quattrini, Angelo, Maltecca, Francesca, Ferrari, Maurizio, Previtali, Stefano Carlo

Journal:

Human Molecular Genetics

Year:

2019

Language:

english

File:

PDF, 1.54 MB

english, 2019

22

Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study

Peretto, Giovanni, Barison, Andrea, Forleo, Cinzia, Di Resta, Chiara, Esposito, Antonio, Aquaro, Giovanni Donato, Scardapane, Arnaldo, Palmisano, Anna, Emdin, Michele, Resta, Nicoletta, Santoni, Anna,

Journal:

Year:

2020

File:

PDF, 573 KB

2020

23

Cardiac and Neuromuscular Features of Patients With LMNA -Related Cardiomyopathy

Peretto, Giovanni, Di Resta, Chiara, Perversi, Jacopo, Forleo, Cinzia, Maggi, Lorenzo, Politano, Luisa, Barison, Andrea, Previtali, Stefano C., Carboni, Nicola, Brun, Francesca, Pegoraro, Elena, D'Ami

Journal:

Annals of Internal Medicine

Year:

2019

File:

PDF, 138 KB

2019