VINCENZI, Monica
VINCENZI, Monica
DIPARTIMENTO DI SCIENZE CHIRURGICHE, ODONTOSTOMATOLOGICHE E MATERNO-INFANTILI
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.
2012-01-01 Popa, Fi; Perlini, S; Teofoli, Francesca; Degani, D; Funghini, S; La Marca, G; Rinaldo, P; Vincenzi, Monica; Antoniazzi, Franco; Boner, Attilio; Camilot, Marta
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism
2022-01-01 Maguolo, Alice; Rodella, Giulia; Giorgetti, Alejandro; Nicolodi, Marion; Ribeiro, Rui; Dianin, Alice; Cantalupo, Gaetano; Monge, Irene; Carcereri, Sarah; De Bernardi, Margherita Lucia; Delledonne, Massimo; Pasini, Andrea; Campostrini, Natascia; Ion Popa, Florina; Piacentini, Giorgio; Teofoli, Francesca; Vincenzi, Monica; Camilot, Marta; Bordugo, Andrea
Analysis of the d3-growth hormone receptor polymorphism in large cohorts of small, appropriate and large for gestational age newborns.
2016-01-01 Vincenzi, Monica; ION POPA, Florina; Corradi, Massimiliano; Gandini, Alberto; Teofoli, Francesca; Camilot, Marta; Boner, Attilio; Cavarzere, Paolo; Gaudino, Rossella; Antoniazzi, Franco
Benefits of rescreening newborns of mothers affected by autoimmune hypothyroidism
2022-01-01 Cavarzere, Paolo; Palma, Laura; Nicolussi Principe, Lara; Vincenzi, Monica; Lauriola, Silvana; Gaudino, Rossella; Murri, Virginia; Lubrano, Luigi; Rossi, Giuliana; Sallemi, Alessia; Fattori, Ermanna; Camilot, Marta; Antoniazzi, Franco
Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
2018-01-01 Cavarzere, Paolo; Mauro, Margherita; Vincenzi, Monica; Lauriola, Silvana; Teofoli, Francesca; Gaudino, Rossella; Ramaroli, Diego Alberto; Micciolo, Rocco; Camilot, Marta; Antoniazzi, Franco
Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management
2016-01-01 Cavarzere, Paolo; Camilot, Marta; Popa, Florina Ion; Lauriola, Silvana; Teofoli, Francesca; Gaudino, Rossella; Vincenzi, Monica; Antoniazzi, Franco
Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis?
2013-01-01 Cavarzere, Paolo; Vincenzi, Monica; Teofoli, Francesca; Gaudino, Rossella; Lauriola, Silvana; Maines, Evelina; Camilot, Marta; Antoniazzi, Franco
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice
2017-01-01 Maines, Evelina; Gugelmo, Giorgia; Tadiotto, Elisa; Pietrobelli, Angelo; Campostrini, Natascia; Pasini, Andrea; ION POPA, Florina; Vincenzi, Monica; Teofoli, Francesca; Camilot, Marta; Bordugo, Andrea
Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism
2014-01-01 Vincenzi, Monica; Camilot, Marta; Ferrarini, Eleonora; Teofoli, Francesca; Venturi, Giacomo; Gaudino, Rossella; Cavarzere, Paolo; De Marco, Giuseppina; Agretti, Patrizia; Dimida, Antonio; Tonacchera, Massimo; Boner, Attilio; Antoniazzi, Franco
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes
2015-01-01 Franceschi, Roberto; Vincenzi, Monica; Camilot, Marta; Antoniazzi, Franco; Freemont, Anthony J; Adams, Judith E; Laine, Christine; Makitie, Outi; Mughal, M. Zulf
L. Inibina B in bambini prepuberi con pregresso criptorchidismo: indice di disfunzione testicolare?
2009-01-01 Cavarzere, P.; Gaudino, Rossella; Marostica, A; Camilot, Marta; Teofoli, Francesca; Zuin, V.; Franceschi, R.; Vincenzi, Monica; Perlini, S.; Monti, Elena; T. a. t. o., ’.
Lack of expression of SERPINF1, the gene coding for pigment epithelium derived factor, causes progressively deforming Osteogenesis Imperfecta with normal type I collagen
2012-01-01 Venturi, Giacomo; Gandini, Alberto; Monti, Elena; DALLE CARBONARE, Luca Giuseppe; Corradi, Massimiliano; Vincenzi, Monica; Valenti, Maria Teresa; Valli, M.; Pelilli, E.; Boner, Attilio; Mottes, Monica; Antoniazzi, Franco
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
2020-01-01 Macchione, Francesco; Salviati, Leonardo; Bordugo, Andrea; Vincenzi, Monica; Camilot, Marta; Teofoli, Francesca; Pancheri, Elia; Zordan, Roberta; Bertolin, Cinzia; Rossi, Silvia; Vattemi, Gaetano; Tonin, Paola
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy
2021-01-01 Maguolo, Alice; Rodella, Giulia; Dianin, Alice; Monge, Irene; Messina, Martina; Rigotti, Erika; Pellegrini, Francesca; Molinaro, Grazia; Lupi, Fiorenzo; Pasini, Andrea; Campostrini, Natascia; Ion Popa, Florina; Teofoli, Francesca; Vincenzi, Monica; Camilot, Marta; Piacentini, Giorgio; Bordugo, Andrea
Role of genotype in the diagnosis of children with 21-hydroxylase deficiency
2011-01-01 Cavarzere, Paolo; Vincenzi, Monica; Teofoli, Francesca; Gaudino, Rossella; Monti, Elena; Maines, Evelina; Doro, Francesco; Luciano, Tatò; Camilot, Marta; Antoniazzi, Franco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. | 1-gen-2012 | Popa, Fi; Perlini, S; Teofoli, Francesca; Degani, D; Funghini, S; La Marca, G; Rinaldo, P; Vincenzi, Monica; Antoniazzi, Franco; Boner, Attilio; Camilot, Marta | |
| A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism | 1-gen-2022 | Maguolo, Alice; Rodella, Giulia; Giorgetti, Alejandro; Nicolodi, Marion; Ribeiro, Rui; Dianin, Alice; Cantalupo, Gaetano; Monge, Irene; Carcereri, Sarah; De Bernardi, Margherita Lucia; Delledonne, Massimo; Pasini, Andrea; Campostrini, Natascia; Ion Popa, Florina; Piacentini, Giorgio; Teofoli, Francesca; Vincenzi, Monica; Camilot, Marta; Bordugo, Andrea | |
| Analysis of the d3-growth hormone receptor polymorphism in large cohorts of small, appropriate and large for gestational age newborns. | 1-gen-2016 | Vincenzi, Monica; ION POPA, Florina; Corradi, Massimiliano; Gandini, Alberto; Teofoli, Francesca; Camilot, Marta; Boner, Attilio; Cavarzere, Paolo; Gaudino, Rossella; Antoniazzi, Franco | |
| Benefits of rescreening newborns of mothers affected by autoimmune hypothyroidism | 1-gen-2022 | Cavarzere, Paolo; Palma, Laura; Nicolussi Principe, Lara; Vincenzi, Monica; Lauriola, Silvana; Gaudino, Rossella; Murri, Virginia; Lubrano, Luigi; Rossi, Giuliana; Sallemi, Alessia; Fattori, Ermanna; Camilot, Marta; Antoniazzi, Franco | |
| Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor? | 1-gen-2018 | Cavarzere, Paolo; Mauro, Margherita; Vincenzi, Monica; Lauriola, Silvana; Teofoli, Francesca; Gaudino, Rossella; Ramaroli, Diego Alberto; Micciolo, Rocco; Camilot, Marta; Antoniazzi, Franco | |
| Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management | 1-gen-2016 | Cavarzere, Paolo; Camilot, Marta; Popa, Florina Ion; Lauriola, Silvana; Teofoli, Francesca; Gaudino, Rossella; Vincenzi, Monica; Antoniazzi, Franco | |
| Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis? | 1-gen-2013 | Cavarzere, Paolo; Vincenzi, Monica; Teofoli, Francesca; Gaudino, Rossella; Lauriola, Silvana; Maines, Evelina; Camilot, Marta; Antoniazzi, Franco | |
| High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice | 1-gen-2017 | Maines, Evelina; Gugelmo, Giorgia; Tadiotto, Elisa; Pietrobelli, Angelo; Campostrini, Natascia; Pasini, Andrea; ION POPA, Florina; Vincenzi, Monica; Teofoli, Francesca; Camilot, Marta; Bordugo, Andrea | |
| Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism | 1-gen-2014 | Vincenzi, Monica; Camilot, Marta; Ferrarini, Eleonora; Teofoli, Francesca; Venturi, Giacomo; Gaudino, Rossella; Cavarzere, Paolo; De Marco, Giuseppina; Agretti, Patrizia; Dimida, Antonio; Tonacchera, Massimo; Boner, Attilio; Antoniazzi, Franco | |
| Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes | 1-gen-2015 | Franceschi, Roberto; Vincenzi, Monica; Camilot, Marta; Antoniazzi, Franco; Freemont, Anthony J; Adams, Judith E; Laine, Christine; Makitie, Outi; Mughal, M. Zulf | |
| L. Inibina B in bambini prepuberi con pregresso criptorchidismo: indice di disfunzione testicolare? | 1-gen-2009 | Cavarzere, P.; Gaudino, Rossella; Marostica, A; Camilot, Marta; Teofoli, Francesca; Zuin, V.; Franceschi, R.; Vincenzi, Monica; Perlini, S.; Monti, Elena; T. a. t. o., ’. | |
| Lack of expression of SERPINF1, the gene coding for pigment epithelium derived factor, causes progressively deforming Osteogenesis Imperfecta with normal type I collagen | 1-gen-2012 | Venturi, Giacomo; Gandini, Alberto; Monti, Elena; DALLE CARBONARE, Luca Giuseppe; Corradi, Massimiliano; Vincenzi, Monica; Valenti, Maria Teresa; Valli, M.; Pelilli, E.; Boner, Attilio; Mottes, Monica; Antoniazzi, Franco | |
| Multiple acyl-COA dehydrogenase deficiency in elderly carriers | 1-gen-2020 | Macchione, Francesco; Salviati, Leonardo; Bordugo, Andrea; Vincenzi, Monica; Camilot, Marta; Teofoli, Francesca; Pancheri, Elia; Zordan, Roberta; Bertolin, Cinzia; Rossi, Silvia; Vattemi, Gaetano; Tonin, Paola | |
| Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy | 1-gen-2021 | Maguolo, Alice; Rodella, Giulia; Dianin, Alice; Monge, Irene; Messina, Martina; Rigotti, Erika; Pellegrini, Francesca; Molinaro, Grazia; Lupi, Fiorenzo; Pasini, Andrea; Campostrini, Natascia; Ion Popa, Florina; Teofoli, Francesca; Vincenzi, Monica; Camilot, Marta; Piacentini, Giorgio; Bordugo, Andrea | |
| Role of genotype in the diagnosis of children with 21-hydroxylase deficiency | 1-gen-2011 | Cavarzere, Paolo; Vincenzi, Monica; Teofoli, Francesca; Gaudino, Rossella; Monti, Elena; Maines, Evelina; Doro, Francesco; Luciano, Tatò; Camilot, Marta; Antoniazzi, Franco |