TEOFOLI, Francesca
TEOFOLI, Francesca
DIPARTIMENTO DI SCIENZE CHIRURGICHE, ODONTOSTOMATOLOGICHE E MATERNO-INFANTILI
20 {YEARS} {OF} {NEONATAL} {SCREENING} {FOR} {CONGENITAL} {ADRENAL} {HYPERPLASIA} {IN} {NORTH}-{EASTERN} {ITALY}: {ROLE} {OF} {LC}-{MS}/{MS} {AS} A {SECOND} {TIER} {TEST}
2022-01-01 Cavarzere, Paolo; Camilot, Marta; Palma, Laura; Lauriola, Silvana; Gaudino, Rossella; Vincenzi, Monica; Antoniazzi, Franco; Teofoli, Francesca; Piacentini, Giorgio
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
A technique of mRNA extraction and labeling from circulating lymphocytes of children treated with growth hormone replacement therapy for microarray analysis
2008-01-01 Camilot, Marta; Teofoli, Francesca; S., Longobardi; Gandini, Alberto; C., Lievore; S., Lauriola; Tato', Luciano
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
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
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience
2020-01-01 Maguolo, A; Rodella, G; Dianin, A; Nurti, R; Monge, I; Rigotti, E; Cantalupo, G; Salviati, L; Tucci, S; Pellegrini, F; Molinaro, G; Lupi, F; Tonin, P; Pasini, A; Campostrini, N; Ion Popa, F; Teofoli, F; Vincenzi, M; Camilot, M; Piacentini, G; Bordugo, A
Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia
2009-01-01 De Marco, G; Agretti, P; Camilot, Marta; Teofoli, Francesca; Tato', Luciano; Vitti, P; Pinchera, A; Tonacchera, M.
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
Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center.
2007-01-01 Camilot, Marta; Teofoli, Francesca; Monica, Vincenzi; Federici, Francesca; Perlini, Silvia; Tato', Luciano
Influence of thyroid morphology on psychomotor development in patients with congenital hypothyroidism during 8 year follow-up
2010-01-01 Franceschi, Roberto; Cavarzere, Paolo; Gaudino, Rossella; Monti, Elena; Perlini, Silvia; Vanzati, Mara; Camilot, Marta; Teofoli, Francesca; Antoniazzi, Franco; Lauriola, Silvana; Albertini, Cristina; Tatò, L.
Influence of thyroid morphology on psychomotor development in patients with congenital hypothyroidism during 8 year follow-up,Influenza della morfologia tiroidea sullo sviluppo psicomotorio di bambini affetti da ipotiroidismo congenito durante 8 anni di follow-up
2010-01-01 Franceschi, R.; Cavarzere, P.; Gaudino, R.; Monti, E.; Perlini, S.; Vanzati, M.; Camilot, M.; Teofoli, F.; Antoniazzi, F.; Lauriola, S.; Albertini, C.; Tat(`o), L.
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 association between thyrotropin receptor gene polymorphisms and subclinical hypothyroidism in children
2007-01-01 Teofoli, Francesca; Camilot, Marta; Tato', Luciano
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
Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report three years into the program.
2005-01-01 Cavarzere, Paolo; Camilot, Marta; Teofoli, Francesca; Tato', Luciano
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 20 {YEARS} {OF} {NEONATAL} {SCREENING} {FOR} {CONGENITAL} {ADRENAL} {HYPERPLASIA} {IN} {NORTH}-{EASTERN} {ITALY}: {ROLE} {OF} {LC}-{MS}/{MS} {AS} A {SECOND} {TIER} {TEST} | 1-gen-2022 | Cavarzere, Paolo; Camilot, Marta; Palma, Laura; Lauriola, Silvana; Gaudino, Rossella; Vincenzi, Monica; Antoniazzi, Franco; Teofoli, Francesca; Piacentini, Giorgio | |
| 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 | |
| A technique of mRNA extraction and labeling from circulating lymphocytes of children treated with growth hormone replacement therapy for microarray analysis | 1-gen-2008 | Camilot, Marta; Teofoli, Francesca; S., Longobardi; Gandini, Alberto; C., Lievore; S., Lauriola; Tato', Luciano | |
| 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 | |
| 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 | |
| Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience | 1-gen-2020 | Maguolo, A; Rodella, G; Dianin, A; Nurti, R; Monge, I; Rigotti, E; Cantalupo, G; Salviati, L; Tucci, S; Pellegrini, F; Molinaro, G; Lupi, F; Tonin, P; Pasini, A; Campostrini, N; Ion Popa, F; Teofoli, F; Vincenzi, M; Camilot, M; Piacentini, G; Bordugo, A | |
| Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia | 1-gen-2009 | De Marco, G; Agretti, P; Camilot, Marta; Teofoli, Francesca; Tato', Luciano; Vitti, P; Pinchera, A; Tonacchera, M. | |
| 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 | |
| Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center. | 1-gen-2007 | Camilot, Marta; Teofoli, Francesca; Monica, Vincenzi; Federici, Francesca; Perlini, Silvia; Tato', Luciano | |
| Influence of thyroid morphology on psychomotor development in patients with congenital hypothyroidism during 8 year follow-up | 1-gen-2010 | Franceschi, Roberto; Cavarzere, Paolo; Gaudino, Rossella; Monti, Elena; Perlini, Silvia; Vanzati, Mara; Camilot, Marta; Teofoli, Francesca; Antoniazzi, Franco; Lauriola, Silvana; Albertini, Cristina; Tatò, L. | |
| Influence of thyroid morphology on psychomotor development in patients with congenital hypothyroidism during 8 year follow-up,Influenza della morfologia tiroidea sullo sviluppo psicomotorio di bambini affetti da ipotiroidismo congenito durante 8 anni di follow-up | 1-gen-2010 | Franceschi, R.; Cavarzere, P.; Gaudino, R.; Monti, E.; Perlini, S.; Vanzati, M.; Camilot, M.; Teofoli, F.; Antoniazzi, F.; Lauriola, S.; Albertini, C.; Tat(`o), L. | |
| 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 association between thyrotropin receptor gene polymorphisms and subclinical hypothyroidism in children | 1-gen-2007 | Teofoli, Francesca; Camilot, Marta; Tato', Luciano | |
| 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 | |
| Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report three years into the program. | 1-gen-2005 | Cavarzere, Paolo; Camilot, Marta; Teofoli, Francesca; Tato', Luciano | |
| 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 |