Syndromic Disorders Caused by Disturbed Human Imprinting

por Carli, Diana, Riberi, Evelise, Ferrero, Giovanni Battista, Mussa, Alessandro
Publicado 2020

Ineffective Erythropoiesis in β-Thalassaemia: Key Steps and Therapeutic Options by Drugs

por Longo, Filomena, Piolatto, Andrea, Ferrero, Giovanni Battista, Piga, Antonio
Publicado 2021

Lateralized and Segmental Overgrowth in Children

por Mussa, Alessandro, Carli, Diana, Cardaropoli, Simona, Ferrero, Giovanni Battista, Resta, Nicoletta
Publicado 2021

PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts

por De Santis, Maria Chiara, Sala, Valentina, Martini, Miriam, Ferrero, Giovanni Battista, Hirsch, Emilio
Publicado 2017

The Influence of Cardiovascular Risk Factors and Hypogonadism on Cardiac Outcomes in an Aging Population of Beta-Thalassemia Patients

por Barbero, Umberto, Ajassa, Matteo, Gaglioti, Carmen Maria, Piga, Antonio, Ferrero, Giovanni Battista, Longo, Filomena
Publicado 2021

Pharmacological and clinical evaluation of deferasirox formulations for treatment tailoring

por Piolatto, Andrea, Berchialla, Paola, Allegra, Sarah, De Francia, Silvia, Ferrero, Giovanni Battista, Piga, Antonio, Longo, Filomena
Publicado 2021

Thyroid Involvement in Two Patients with Bannayan-Riley-Ruvalcaba Syndrome

por Peiretti, Valentina, Mussa, Alessandro, Feyles, Francesca, Tuli, Gerdi, Santanera, Arianna, Molinatto, Cristina, Ferrero, Giovanni Battista, Corrias, Andrea
Publicado 2013

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

por Trajkova, Slavica, Di Gregorio, Eleonora, Ferrero, Giovanni Battista, Carli, Diana, Pavinato, Lisa, Delplancq, Geoffroy, Kuentz, Paul, Brusco, Alfredo
Publicado 2020

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

por Borghesi, Alessandro, Mencarelli, Maria Antonietta, Memo, Luigi, Ferrero, Giovanni Battista, Bartuli, Andrea, Genuardi, Maurizio, Stronati, Mauro, Villani, Alberto, Renieri, Alessandra, Corsello, Giovanni
Publicado 2017

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith–Wiedemann Syndrome

por Mussa, Alessandro, Ciuffreda, Valentina Pia, Sauro, Pina, Pagliardini, Veronica, Pagliardini, Severo, Carli, Diana, Kalish, Jennifer M., Fagioli, Franca, Pavanello, Enza, Ferrero, Giovanni Battista
Publicado 2019

“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”

por Tuli, Gerdi, Munarin, Jessica, Mussa, Alessandro, Carli, Diana, Gastaldi, Roberto, Borgia, Paola, Vigone, Maria Cristina, Abbate, Marco, Ferrero, Giovanni Battista, De Sanctis, Luisa
Publicado 2021

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

por TIMEUS, FABIO, CRESCENZIO, NICOLETTA, BALDASSARRE, GIUSEPPINA, DORIA, ALESSANDRA, VALLERO, STEFANO, FOGLIA, LUISELDA, PAGLIANO, SARA, ROSSI, CESARE, SILENGO, MARGHERITA CIRILLO, RAMENGHI, UGO, FAGIOLI, FRANCA, DI MONTEZEMOLO, LUCA CORDERO, FERRERO, GIOVANNI BATTISTA
Publicado 2013

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

por Crippa, Milena, Bonati, Maria Teresa, Calzari, Luciano, Picinelli, Chiara, Gervasini, Cristina, Sironi, Alessandra, Bestetti, Ilaria, Guzzetti, Sara, Bellone, Simonetta, Selicorni, Angelo, Mussa, Alessandro, Riccio, Andrea, Ferrero, Giovanni Battista, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Publicado 2019

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies

por Mussa, Alessandro, Turchiano, Antonella, Cardaropoli, Simona, Coppo, Paola, Pantaleo, Antonino, Bagnulo, Rosanna, Ranieri, Carlotta, Iacoviello, Matteo, Garganese, Antonella, Stella, Alessandro, Vallero, Stefano Gabriele, Bertin, Daniele, Santoro, Federica, Carli, Diana, Ferrero, Giovanni Battista, Resta, Nicoletta
Publicado 2022

Successful treatment with MEK‐inhibitor in a patient with NRAS ‐related cutaneous skeletal hypophosphatemia syndrome

por Carli, Diana, Cardaropoli, Simona, Tessaris, Daniele, Coppo, Paola, La Selva, Roberta, Cesario, Claudia, Lepri, Francesca Romana, Pullano, Verdiana, Palumbo, Martina, Ramenghi, Ugo, Brusco, Alfredo, Medico, Enzo, De Sanctis, Luisa, Ferrero, Giovanni Battista, Mussa, Alessandro
Publicado 2022

Transcriptional Hallmarks of Noonan Syndrome and Noonan-Like Syndrome with Loose Anagen Hair

por Ferrero, Giovanni Battista, Picco, Gabriele, Baldassarre, Giuseppina, Flex, Elisabetta, Isella, Claudio, Cantarella, Daniela, Corá, Davide, Chiesa, Nicoletta, Crescenzio, Nicoletta, Timeus, Fabio, Merla, Giuseppe, Mazzanti, Laura, Zampino, Giuseppe, Rossi, Cesare, Silengo, Margherita, Tartaglia, Marco, Medico, Enzo
Publicado 2012

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

por Chiesa, Nicoletta, De Crescenzo, Agostina, Mishra, Kankadeb, Perone, Lucia, Carella, Massimo, Palumbo, Orazio, Mussa, Alessandro, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Lapi, Elisabetta, Cubellis, Maria Vittoria, Kanduri, Chandrasekhar, Cirillo Silengo, Margherita, Riccio, Andrea, Ferrero, Giovanni Battista
Publicado 2012

MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

por Mussa, Alessandro, Carli, Diana, Giorgio, Elisa, Villar, Anna Maria, Cardaropoli, Simona, Carbonara, Caterina, Campagnoli, Maria Francesca, Galletto, Paolo, Palumbo, Martina, Olivieri, Simone, Isella, Claudio, Andelfinger, Gregor, Tartaglia, Marco, Botta, Giovanni, Brusco, Alfredo, Medico, Enzo, Ferrero, Giovanni Battista
Publicado 2021

Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height

por Libraro, Annachiara, D’Ascanio, Vito, Cappa, Marco, Chiarito, Mariangela, Digilio, Maria Cristina, Einaudi, Silvia, Grandone, Anna, Maghnie, Mohamad, Mazzanti, Laura, Mussa, Alessandro, Patti, Giuseppa, Scarano, Emanuela, Spinuzza, Antonietta, Vannelli, Silvia, Wasniewska, Malgorzata Gabriela, Ferrero, Giovanni Battista, Faienza, Maria Felicia
Publicado 2021

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

por Ho, Bianca, Greenlaw, Keelin, Al Tuwaijri, Abeer, Moussette, Sanny, Martínez, Francisco, Giorgio, Elisa, Brusco, Alfredo, Ferrero, Giovanni Battista, Linhares, Natália D., Valadares, Eugênia R., Svartman, Marta, Kalscheuer, Vera M., Rodríguez Criado, Germán, Laprise, Catherine, Greenwood, Celia M. T., Naumova, Anna K.
Publicado 2018