Giorgia Mandrile

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 13

Top Venues

Nature reviews. Nephrology

European journal of human genetics : EJHG

Case reports in genetics

Journal of clinical medicine

Azienda Ospedaliero Universitaria San Luigi Gonzaga

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Azienda Ospedaliero Universitaria San Luigi Gonzaga Jan 01 2018

Italy

Medical Doctor :: THALASSEMIA CENTER

Publications

Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG (2024)
Jaap W Groothoff, Ella Metry, Lisa Deesker, Sander Garrelfs, Cecile Acquaviva, Reham Almardini, Bodo Bernhard Beck, Olivia Boyer, Rimante Cerkauskiene, Pietro Manuel Ferraro, Luitzen A Groen, Asheeta Gupta, Bertrand Knebelmann, Giorgia Mandrile, Shabbir S Moochhala, Agnieszka Prytula, Jovana Putnik, Gill Rumsby, Neveen A Soliman, Bhaskar Kumar Somani, Justine Bacchetta
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nature reviews. Nephrology 19 (3) (2023)
Jaap W Groothoff, Ella Metry, Lisa Deesker, Sander Garrelfs, Cecile Acquaviva, Reham Almardini, Bodo Bernhard Beck, Olivia Boyer, Rimante Cerkauskiene, Pietro Manuel Ferraro, Luitzen A Groen, Asheeta Gupta, Bertrand Knebelmann, Giorgia Mandrile, Shabbir S Moochhala, Agnieszka Prytula, Jovana Putnik, Gill Rumsby, Neveen A Soliman, Bhaskar Kumar Somani, Justine Bacchetta
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nature reviews. Nephrology 19 (3) (2023)
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Enza Ferrero, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella, Anthony Battaglia, Luca Bertoli, Antonio Fadda, Flavia Palermo, Diana Carli, Alessandro Mussa, Paola Dimartino, Alessandro Bruselles, Tawfiq Froukh, Giorgia Mandrile, Barbara Pasini, Silvia De Rubeis, Joseph D Buxbaum, Tommaso Pippucci, Tartaglia Marco, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero, Alfredo Brusco
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. European journal of human genetics : EJHG (2023)
Jaap W Groothoff, Ella Metry, Lisa Deesker, Sander Garrelfs, Cecile Acquaviva, Reham Almardini, Bodo Bernhard Beck, Olivia Boyer, Rimante Cerkauskiene, Pietro Manuel Ferraro, Luitzen A Groen, Asheeta Gupta, Bertrand Knebelmann, Giorgia Mandrile, Shabbir S Moochhala, Agnieszka Prytula, Jovana Putnik, Gill Rumsby, Neveen A Soliman, Bhaskar Kumar Somani, Justine Bacchetta
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nature reviews. Nephrology 19 (3) (2023)
Jaap W Groothoff, Ella Metry, Lisa Deesker, Sander Garrelfs, Cecile Acquaviva, Reham Almardini, Bodo Bernhard Beck, Olivia Boyer, Rimante Cerkauskiene, Pietro Manuel Ferraro, Luitzen A Groen, Asheeta Gupta, Bertrand Knebelmann, Giorgia Mandrile, Shabbir S Moochhala, Agnieszka Prytula, Jovana Putnik, Gill Rumsby, Neveen A Soliman, Bhaskar Kumar Somani, Justine Bacchetta
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nature reviews. Nephrology (2023)
Jaap W Groothoff, Ella Metry, Lisa Deesker, Sander Garrelfs, Cecile Acquaviva, Reham Almardini, Bodo Bernhard Beck, Olivia Boyer, Rimante Cerkauskiene, Pietro Manuel Ferraro, Luitzen A Groen, Asheeta Gupta, Bertrand Knebelmann, Giorgia Mandrile, Shabbir S Moochhala, Agnieszka Prytula, Jovana Putnik, Gill Rumsby, Neveen A Soliman, Bhaskar Kumar Somani, Justine Bacchetta
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nature reviews. Nephrology 19 (3) (2023)
Giorgia Mandrile, Susanna Barella, Antonino Giambona, Antonia Gigante, Michela Grosso, Silverio Perrotta, Saverio Scianguetta, Gian Luca Forni
First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE). Journal of clinical medicine 11 (18) (2022)
Giorgia Mandrile, Alessandra Pelle, Veronica Sciannameo, Elisa Benetti, Maria Michela D'Alessandro, Francesco Emma, Giovanni Montini, Licia Peruzzi, Michele Petrarulo, Renato Romagnoli, Corrado Vitale, Barbara Cellini, Daniela Francesca Giachino
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease. Journal of nephrology 35 (3) (2022)
Francesco Tandoi, Davide Cussa, Licia Peruzzi, Silvia Catalano, Roberta Camilla, Giorgia Mandrile, Pier Luigi Calvo, Pier Luigi Calvo, Dominic Dell'Olio, Mauro Salizzoni, Antonio Amoroso, Renato Romagnoli
Combined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? Current transplantation strategies and monocentric experience. Pediatric transplantation 25 (4) (2021)
Giorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, Alessandro Brussino, Enrico Grosso, Elisa Savin, Daniela Francesca Giachino, Alfredo Brusco
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. Case reports in genetics 2014 (2014)

Giorgia Mandrile.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Giorgia Mandrile