TEOFOLI, Francesca

TEOFOLI, Francesca  

DIPARTIMENTO DI SCIENZE CHIRURGICHE, ODONTOSTOMATOLOGICHE E MATERNO-INFANTILI  

Mostra records
Risultati 1 - 20 di 25 (tempo di esecuzione: 0.006 secondi).
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 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.
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
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.
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
Polymorphisms of the TSH Receptor gene in children with resistance to TSH and in helthy young controls 1-gen-2004 Teofoli, Francesca; Camilot, Marta; Gandini, Alberto; Franceschi, Roberto; F., Pellegrini; Monti, Elena; Perlini, Silvia; A., Rapa; A., Corrias; G., Bona; L., Tatò