CAMILOT, Marta
CAMILOT, Marta
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
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
Characterizatin of phenyalanine hydroxylase alleles in North-East Italy: a preliminary investigation
2001-01-01 Zaffanello, Marco; Camilot, Marta; Maffeis, Claudio; Vella, F; Tatò, L.
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
Circulating ghrelin levels in girls with central precocious puberty are reduced during treatment with LHRH analog.
2007-01-01 Maffeis, Claudio; Franceschi, R; Moghetti, Paolo; Camilot, Marta; Lauriola, Silvana; Tato', Luciano
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
Determination of thyroxine in the hair of newborns by radioimmunoassay with high-performance liquid chromatographic confirmation
1998-01-01 Tagliaro, Franco; Camilot, M; Valentini, R; Mengarda, F; Antoniazzi, Franco; Tato', Luciano
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.
Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern italian neonatal screening
2005-01-01 Zaffanello, Marco; Zamboni, Giorgio; Maselli, M; Gandini, Alberto; Camilot, Marta; Maffeis, Claudio; Burlina, Ab; Tato', Luciano
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
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature
2015-01-01 Maines, Evelina; Morandi, Grazia; Francesca, Olivieri; Camilot, Marta; Cavarzere, Paolo; Gaudino, Rossella; Antoniazzi, Franco; Andrea, Bordugo
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
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
| 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 | |
| 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 | |
| Characterizatin of phenyalanine hydroxylase alleles in North-East Italy: a preliminary investigation | 1-gen-2001 | Zaffanello, Marco; Camilot, Marta; Maffeis, Claudio; Vella, F; Tatò, L. | |
| 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 | |
| Circulating ghrelin levels in girls with central precocious puberty are reduced during treatment with LHRH analog. | 1-gen-2007 | Maffeis, Claudio; Franceschi, R; Moghetti, Paolo; Camilot, Marta; Lauriola, Silvana; Tato', Luciano | |
| 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 | |
| Determination of thyroxine in the hair of newborns by radioimmunoassay with high-performance liquid chromatographic confirmation | 1-gen-1998 | Tagliaro, Franco; Camilot, M; Valentini, R; Mengarda, F; Antoniazzi, Franco; Tato', Luciano | |
| 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. | |
| Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern italian neonatal screening | 1-gen-2005 | Zaffanello, Marco; Zamboni, Giorgio; Maselli, M; Gandini, Alberto; Camilot, Marta; Maffeis, Claudio; Burlina, Ab; Tato', Luciano | |
| 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 | |
| Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature | 1-gen-2015 | Maines, Evelina; Morandi, Grazia; Francesca, Olivieri; Camilot, Marta; Cavarzere, Paolo; Gaudino, Rossella; Antoniazzi, Franco; Andrea, Bordugo | |
| 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 | |
| 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 |