Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation
Salerno, Teresa, Peca, Donatella, Menchini, Laura, Schiavino, Alessandra, Boldrini, Renata, Esposito, Fulvio, Danhaive, Olivier, Cutrera, Renato
Published in Italian journal of pediatrics (29.02.2016)
Published in Italian journal of pediatrics (29.02.2016)
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Journal Article
New ATP‐binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3
Piersigilli, Fiammetta, Peca, Donatella, Campi, Francesca, Corsello, Mirta, Landolfo, Francesca, Boldrini, Renata, Danhaive, Olivier, Dotta, Andrea
Published in Pediatrics international (01.10.2015)
Published in Pediatrics international (01.10.2015)
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Journal Article
Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect
Peca, Donatella, Petrini, Stefania, Tzialla, Chryssoula, Boldrini, Renata, Morini, Francesco, Stronati, Mauro, Carnielli, Virgilio P, Cogo, Paola E, Danhaive, Olivier
Published in Respiratory research (25.08.2011)
Published in Respiratory research (25.08.2011)
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Journal Article
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension
Galambos, Csaba, Mullen, Mary P, Shieh, Joseph T, Schwerk, Nicolaus, Kielt, Matthew J, Ullmann, Nicola, Boldrini, Renata, Stucin-Gantar, Irena, Haass, Cristina, Bansal, Manish, Agrawal, Pankaj B, Johnson, Joyce, Peca, Donatella, Surace, Cecilia, Cutrera, Renato, Pauciulo, Michael W, Nichols, William C, Griese, Matthias, Ivy, Dunbar, Abman, Steven H, Austin, Eric D, Danhaive, Olivier
Published in The European respiratory journal (01.08.2019)
Published in The European respiratory journal (01.08.2019)
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Journal Article
Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene
Salerno, Teresa, Peca, Donatella, Menchini, Laura, Schiavino, Alessandra, Petreschi, Francesca, Occasi, Francesca, Cogo, Paola, Danhaive, Olivier, Cutrera, Renato
Published in Pediatric pulmonology (01.03.2014)
Published in Pediatric pulmonology (01.03.2014)
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Journal Article
Impaired surfactant protein B synthesis in infants with congenital diaphragmatic hernia
COGO, Paola E, SIMONATO, Manuela, DANHAIVE, Olivier, VERLATO, Giovanna, COBELLIS, Giovanna, SAVIGNONI, Francesco, PECA, Donatella, BARITUSSIO, Aldo, CARNIELLI, Virgilio P
Published in The European respiratory journal (01.03.2013)
Published in The European respiratory journal (01.03.2013)
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Journal Article
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations
Peca, Donatella, Boldrini, Renata, Johannson, Jan, Shieh, Joseph T, Citti, Arianna, Petrini, Stefania, Salerno, Teresa, Cazzato, Salvatore, Testa, Raffaele, Messina, Francesco, Onofri, Alfredo, Cenacchi, Giovanna, Westermark, Per, Ullmann, Nicola, Ullman, Nicola, Cogo, Paola, Cutrera, Renato, Danhaive, Olivier
Published in European journal of human genetics : EJHG (01.08.2015)
Published in European journal of human genetics : EJHG (01.08.2015)
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Journal Article
Ultrastructural Characterization of Genetic Diffuse Lung Diseases in Infants and Children: A Cohort Study and Review
Citti, Arianna, Peca, Donatella, Petrini, Stefania, Cutrera, Renato, Biban, Paolo, Haass, Cristina, Boldrini, Renata, Danhaive, Olivier
Published in Ultrastructural pathology (01.10.2013)
Published in Ultrastructural pathology (01.10.2013)
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Journal Article
Erratum: Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations
Peca, Donatella, Boldrini, Renata, Johannson, Jan, Shieh, Joseph T, Citti, Arianna, Petrini, Stefania, Salerno, Teresa, Cazzato, Salvatore, Testa, Raffaele, Messina, Francesco, Onofri, Alfredo, Cenacchi, Giovanna, Westermark, Per, Ullmann, Nicola, Cogo, Paola, Cutrera, Renato, Danhaive, Olivier
Published in European journal of human genetics : EJHG (14.04.2016)
Published in European journal of human genetics : EJHG (14.04.2016)
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Journal Article
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations
Peca, Donatella, Boldrini, Renata, Johannson, Jan, Shieh, Joseph T, Citti, Arianna, Petrini, Stefania, Salerno, Teresa, Cazzato, Salvatore, Testa, Raffaele, Messina, Francesco, Onofri, Alfredo, Cenacchi, Giovanna, Westermark, Per, Ullmann, Nicola, Cogo, Paola, Cutrera, Renato, Danhaive, Olivier
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (01.05.2016)
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (01.05.2016)
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Publication
ABCA3 mutation and pulmonary hypertension: A link with alveolar capillary dysplasia?
Danhaive, Olivier, MD, Peca, Donatella, Boldrini, Renata, MD
Published in The Journal of pediatrics (01.06.2008)
Published in The Journal of pediatrics (01.06.2008)
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Journal Article
New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3
Piersigilli, Fiammetta, Peca, Donatella, Campi, Francesca, Corsello, Mirta, Landolfo, Francesca, Boldrini, Renata, Danhaive, Olivier, Dotta, Andrea
Published in Pediatrics International (01.10.2015)
Published in Pediatrics International (01.10.2015)
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