Isabella Torrente

Affiliations

Medical Genetics Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.

Publications (5)

Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.

Stem cell research

Avec: Giovannina Rotundo , Elisa Maria Turco , Giorgia Ruotolo , Isabella Torrente , Ornella Candido , Gianluca Lopez , Daniela Ferrari , Caterina Caputi , Mario Mastrangelo , Francesco Pisani , Maurizio Gelati , Vito Guarnieri , Angelo Luigi Vescovi , Jessica Rosati

Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.

Stem cell research

Avec: Alessia Casamassa , Alessandra Zanetti , Daniela Ferrari , Ivan Lombardi , Gaia Galluzzi , Francesca D'Avanzo , Gabriella Cipressa , Alessia Bertozzi , Isabella Torrente , Angelo Luigi Vescovi , Rosella Tomanin , Jessica Rosati

Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.

Stem cell research

Avec: Elisa Maria Turco , Angela Maria Giada Giovenale , Giovannina Rotundo , Martina Mazzoni , Paola Zanfardino , Katia Frezza , Isabella Torrente , Rose Mary Carletti , Devid Damiani , Filippo M Santorelli , Angelo Luigi Vescovi , Vittoria Petruzzella , Jessica Rosati

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

European journal of human genetics : EJHG

Avec: Francesca Piceci-Sparascio , Lucia Micale , Barbara Torres , Valentina Guida , Federica Consoli , Isabella Torrente , Annamaria Onori , Emanuela Frustaci , Maria Cecilia D'Asdia , Francesco Petrizzelli , Laura Bernardini , Cecilia Mancini , Fiorenza Soli , Dario Cocciadiferro , Daniele Guadagnolo , Gioia Mastromoro , Carolina Putotto , Franco Fontana , Nicola Brunetti-Pierri , Antonio Novelli , Antonio Pizzuti , Bruno Marino , Maria Cristina Digilio , Tommaso Mazza , Bruno Dallapiccola , Victor Luis Ruiz-Perez , Marco Tartaglia , Marco Castori , Alessandro De Luca

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

Human mutation

Avec: Francesca Piceci-Sparascio , Adrian Palencia-Campos , Patricia Soto-Bielicka , Angela D'Anzi , Valentina Guida , Jessica Rosati , Jose A Caparros-Martin , Isabella Torrente , M Cecilia D'Asdia , Paolo Versacci , Silvana Briuglia , Pablo Lapunzina , Marco Tartaglia , Bruno Marino , M Cristina Digilio , Victor L Ruiz-Perez , Alessandro De Luca

Réseau de co-auteurs

Jessica Rosati 4 collaborations

Angelo Luigi Vescovi 3 collaborations

Giovannina Rotundo 2 collaborations

Elisa Maria Turco 2 collaborations

Daniela Ferrari 2 collaborations

Francesca Piceci-Sparascio 2 collaborations

Valentina Guida 2 collaborations

Bruno Marino 2 collaborations

Marco Tartaglia 2 collaborations

Alessandro De Luca 2 collaborations

Giorgia Ruotolo 1 collaboration

Ornella Candido 1 collaboration

Gianluca Lopez 1 collaboration

Caterina Caputi 1 collaboration

Mario Mastrangelo 1 collaboration

Francesco Pisani 1 collaboration

Maurizio Gelati 1 collaboration

Vito Guarnieri 1 collaboration

Alessia Casamassa 1 collaboration

Alessandra Zanetti 1 collaboration

Ivan Lombardi 1 collaboration

Gaia Galluzzi 1 collaboration

Francesca D'Avanzo 1 collaboration

Gabriella Cipressa 1 collaboration

Alessia Bertozzi 1 collaboration

Rosella Tomanin 1 collaboration

Angela Maria Giada Giovenale 1 collaboration

Martina Mazzoni 1 collaboration

Paola Zanfardino 1 collaboration

Katia Frezza 1 collaboration

Rose Mary Carletti 1 collaboration

Devid Damiani 1 collaboration

Filippo M Santorelli 1 collaboration

Vittoria Petruzzella 1 collaboration

Lucia Micale 1 collaboration

Barbara Torres 1 collaboration

Federica Consoli 1 collaboration

Annamaria Onori 1 collaboration

Emanuela Frustaci 1 collaboration

Maria Cecilia D'Asdia 1 collaboration

Francesco Petrizzelli 1 collaboration

Laura Bernardini 1 collaboration

Cecilia Mancini 1 collaboration

Fiorenza Soli 1 collaboration

Dario Cocciadiferro 1 collaboration

Daniele Guadagnolo 1 collaboration

Gioia Mastromoro 1 collaboration

Carolina Putotto 1 collaboration

Franco Fontana 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Antonio Novelli 1 collaboration

Antonio Pizzuti 1 collaboration

Maria Cristina Digilio 1 collaboration

Tommaso Mazza 1 collaboration

Bruno Dallapiccola 1 collaboration

Victor Luis Ruiz-Perez 1 collaboration

Marco Castori 1 collaboration

Adrian Palencia-Campos 1 collaboration

Patricia Soto-Bielicka 1 collaboration

Angela D'Anzi 1 collaboration

Jose A Caparros-Martin 1 collaboration

M Cecilia D'Asdia 1 collaboration

Paolo Versacci 1 collaboration

Silvana Briuglia 1 collaboration

Pablo Lapunzina 1 collaboration

M Cristina Digilio 1 collaboration

Victor L Ruiz-Perez 1 collaboration