Sfoglia per Autore
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH.
2012 Menabò S.; Marsigli A.; Baldazzi L.; Nicoletti A.; Pirazzoli P.; Balsamo A.
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche.
2012 Nicoletti A; Mazzanti L.; Menabò S.; Scarano E.; Tamburrino F.; Cangemi G.; Pirazzoli P.; Baldazzi L
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
2012 Menabò S; Balsamo A; Baldazzi L; Barbaro M; Nicoletti A; Conti V; Pirazzoli P; Wedell A; Cicognani A.
Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency
2012 I.Bettocchi; A.Nicoletti; F.Baronio; S.Monti; A.Rizzello; L.Baldazzi; A.Cassio; A.Pession; M.Bal
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia
2013 Annalisa Nicoletti; Alessandra Cassio; Ilaria Bettocchi; Soara Menabò; Angela Rizzello; Giuseppe A. Cangemi; Laura Mazzanti; Lilia Baldazzi
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results.
2013 Balsamo A.; Menabò S.; Wasniewska M.; Mirabelli S.; Nicoletti A.; Marsigli A.; Rinaldini D.; De Luca F.; Mazzanti L.; Baldazzi L.
Current Loss-Of-Function Mutations in The Thyrotropin Receptor Gene: When to Investigate, Clinical Effects, and Treatment.
2013 Cassio, A; Nicoletti, A; Rizzello, A; Zazzetta, E; Bal, M; Baldazzi, L
NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.
2015 Monti, Sara; Nicoletti, Annalisa; Cantasano, Antonella; Krude, H; Cassio, Alessandra
First Description of Partial Atrioventricular Septal Defect in a Rabbit
2018 Di Girolamo, Nicola*; Palmieri, Chiara; Baron Toaldo, Marco; Nicoletti, Annalisa; Spattini, Giliola; Zeyen, Ulrich; Selleri, Paolo
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. | Menabò S.; Marsigli A.; Baldazzi L.; Nicoletti A.; Pirazzoli P.; Balsamo A. | 2012-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 4.02 Riassunto (Abstract) | - |
| Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. | Nicoletti A; Mazzanti L.; Menabò S.; Scarano E.; Tamburrino F.; Cangemi G.; Pirazzoli P.; Baldazzi L | 2012-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 1.06 Abstract in rivista | - |
| A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia. | Menabò S; Balsamo A; Baldazzi L; Barbaro M; Nicoletti A; Conti V; Pirazzoli P; Wedell A; Cicognan...i A. | 2012-01-01 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | - | 1.01 Articolo in rivista | - |
| Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency | I.Bettocchi; A.Nicoletti; F.Baronio; S.Monti; A.Rizzello; L.Baldazzi; A.Cassio; A.Pession; M.Bal | 2012-01-01 | JOURNAL OF INHERITED METABOLIC DISEASE | - | 4.02 Riassunto (Abstract) | - |
| Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia |
Annalisa Nicoletti; Alessandra Cassio; Ilaria Bettocchi; Soara Menabò; Angela Rizzello; Giuseppe ...A. Cangemi; Laura Mazzanti; Lilia Baldazzi |
2013-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 1.06 Abstract in rivista | - |
| Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. | Balsamo A.; Menabò S.; Wasniewska M.; Mirabelli S.; Nicoletti A.; Marsigli A.; Rinaldini D.; De L...uca F.; Mazzanti L.; Baldazzi L. | 2013-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 1.06 Abstract in rivista | - |
| Current Loss-Of-Function Mutations in The Thyrotropin Receptor Gene: When to Investigate, Clinical Effects, and Treatment. | Cassio, A; Nicoletti, A; Rizzello, A; Zazzetta, E; Bal, M; Baldazzi, L | 2013-01-01 | JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY | - | 1.01 Articolo in rivista | - |
| NKX2.1-Related Disorders: a novel mutation with mild clinical presentation. | Monti, Sara; Nicoletti, Annalisa; Cantasano, Antonella; Krude, H; Cassio, Alessandra | 2015-01-01 | THE ITALIAN JOURNAL OF PEDIATRICS | - | 1.01 Articolo in rivista | IJP NKX2.1.pdf |
| First Description of Partial Atrioventricular Septal Defect in a Rabbit | Di Girolamo, Nicola*; Palmieri, Chiara; Baron Toaldo, Marco; Nicoletti, Annalisa; Spattini, Gilio...la; Zeyen, Ulrich; Selleri, Paolo | 2018-01-01 | JOURNAL OF EXOTIC PET MEDICINE | - | 1.01 Articolo in rivista | marco baron toaldo di girolamo.pdf |
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