Sfoglia per Autore
Polymorphisms of the TSH Receptor gene in children with resistance to TSH and in helthy young controls
2004-01-01 Teofoli, Francesca; Camilot, Marta; Gandini, Alberto; Franceschi, Roberto; F., Pellegrini; Monti, Elena; Perlini, Silvia; A., Rapa; A., Corrias; G., Bona; L., Tatò
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
2005-01-01 Camilot, Marta; Teofoli, Francesca; Gandini, Alberto; Franceschi, R; Rapa, A; Corrias, A; Bona, G; Radetti, G; Tato', Luciano
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
Lack of association between thyrotropin receptor gene polymorphisms and subclinical hypothyroidism in children
2007-01-01 Teofoli, Francesca; Camilot, Marta; Tato', Luciano
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
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
Prepubertal serum inhibin B in cryptorchid infants and in monorchid boys with compensatory testicular hypertrophy
2008-01-01 Gaudino, Rossella; Cavarzere, Paolo; Camilot, Marta; Teofoli, Francesca; Zampieri, Nicola; Tato', Luciano
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.
Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved.
2009-01-01 A., Rapa; A., Monzani; S., Moia; D., Vivenza; S., Bellone; A., Petri; Teofoli, Francesca; A., Cassio; G., Cesaretti; A., Corrias; V. d., Sanctis; S. D., Maio; C., Volta; M., Wasniewska; Tato', Luciano; G., Bona
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., ’.
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.
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
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
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
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
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
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
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
Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient
2017-01-01 Maines, E; Morandi, G; Gugelmo, G; Ion-Popa, F; Campostrini, N; Pasini, A; Vincenzi, M; Teofoli, F; Camilot, M; Bordugo, A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. | 1-gen-2005 | Camilot, Marta; Teofoli, Francesca; Gandini, Alberto; Franceschi, R; Rapa, A; Corrias, A; Bona, G; Radetti, G; Tato', Luciano | |
| 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 | |
| Lack of association between thyrotropin receptor gene polymorphisms and subclinical hypothyroidism in children | 1-gen-2007 | Teofoli, Francesca; Camilot, Marta; Tato', Luciano | |
| 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 | |
| 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 | |
| Prepubertal serum inhibin B in cryptorchid infants and in monorchid boys with compensatory testicular hypertrophy | 1-gen-2008 | Gaudino, Rossella; Cavarzere, Paolo; Camilot, Marta; Teofoli, Francesca; Zampieri, Nicola; Tato', Luciano | |
| 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. | |
| Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved. | 1-gen-2009 | A., Rapa; A., Monzani; S., Moia; D., Vivenza; S., Bellone; A., Petri; Teofoli, Francesca; A., Cassio; G., Cesaretti; A., Corrias; V. d., Sanctis; S. D., Maio; C., Volta; M., Wasniewska; Tato', Luciano; G., Bona | |
| 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., ’. | |
| 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. | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient | 1-gen-2017 | Maines, E; Morandi, G; Gugelmo, G; Ion-Popa, F; Campostrini, N; Pasini, A; Vincenzi, M; Teofoli, F; Camilot, M; Bordugo, A |
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