Sfoglia per Autore
Glucose tolerance and insulin sensitivity in Turner patients treated with GH: Follow-up until the young adult age
2005 L. Mazzanti;R. Bergamaschi;E. Scarano;M. Bal;L. Castiglioni;C. Matteucci;F.Tamburrino;F. Zappulla ; A. Cicognani
Correlations of phenotype and genotype in relation to mor phologic remodelling of the aortic root in patients with Turner's syndrome
2009 Prandstraller D; Mazzanti L; Giardini A; Lovato L; Tamburrino F; Scarano E; Cicognani A; Fattori R; Picchio FM
DEVELOPMENTAL SYNDROMES: GROWTH HORMONE DEFICIENCY AND TREATMENT.
2009 Mazzanti, L; Tamburrino, F; Bergamaschi, R; Scarano, E; Montanari, F; Torella, M; Ballarini, E; Cicognani, A.
Insulin sensitivity and acanthosis nigricans (AN) in Turner syndrome
2010 L. Mazzanti; E. Scarano; C. Matteucci; F. Tamburrino; F. Montanari; E. Ballarini; M.C. Ragni; A. Cicognani
SHOX dosage and final height (FH) in Turner syndrome (TS) treated with GH-therapy
2011 Mazzanti L.; Nicoletti A.; Tamburrino F.; Scarano E.; Baldazzi L.; Ragni M.C.; Perri A.; De Angelis C.; Cicognani 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
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).
2013 Mazzanti, L; Tamburrino, F; Scarano, E; Perri, A; Vestrucci, B; Guidetti, M; Rossi, C; Tartaglia, M
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
2015 Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data
2015 Tamburrino, Federica; Gibertoni, Dino; Rossi, Cesare; Scarano, Emanuela; Perri, Annamaria; Montanari, Francesca; Fantini, Maria Pia; Pession, Andrea; Tartaglia, Marco; Mazzanti, Laura
Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome
2015 Radetti, G; Mazzanti, L.; Di Somma, C.; Salerno, M.; Gottardi, E.; Capalbo, D.; Tamburrino, F.; Colao, A.
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism.
2016 Paola, Visconti; Annio, Posar; Maria Cristina, Scaduto; Angelo, Russo; Federica, Tamburrino; Laura, Mazzanti.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
2016 Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
2019 Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
2020 Motta M.; Pannone L.; Pantaleoni F.; Bocchinfuso G.; Radio F.C.; Cecchetti S.; Ciolfi A.; Di Rocco M.; Elting M.W.; Brilstra E.H.; Boni S.; Mazzanti L.; Tamburrino F.; Walsh L.; Payne K.; Fernandez-Jaen A.; Ganapathi M.; Chung W.K.; Grange D.K.; Dave-Wala A.; Reshmi S.C.; Bartholomew D.W.; Mouhlas D.; Carpentieri G.; Bruselles A.; Pizzi S.; Bellacchio E.; Piceci-Sparascio F.; Lissewski C.; Brinkmann J.; Waclaw R.R.; Waisfisz Q.; van Gassen K.; Wentzensen I.M.; Morrow M.M.; Alvarez S.; Martinez-Garcia M.; De Luca A.; Memo L.; Zampino G.; Rossi C.; Seri M.; Gelb B.D.; Zenker M.; Dallapiccola B.; Stella L.; Prada C.E.; Martinelli S.; Flex E.; Tartaglia M.
New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study
2022 Gambineri, A; Scarano, E; Rucci, P; Perri, A; Tamburrino, F; Altieri, P; Corzani, F; Cecchetti, C; Dionese, P; Belardinelli, E; Ibarra-Gasparini, D; Menabò, S; Vicennati, V; Repaci, A; di Dalmazi, G; Pelusi, C; Zavatta, G; Virdi, A; Neri, I; Fanelli, F; Mazzanti, L; Pagotto, U
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Glucose tolerance and insulin sensitivity in Turner patients treated with GH: Follow-up until the young adult age |
L. Mazzanti;R. Bergamaschi;E. Scarano;M. Bal;L. Castiglioni;C. Matteucci;F.Tamburrino;F. Zappulla... ; A. Cicognani |
2005-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
| Correlations of phenotype and genotype in relation to mor phologic remodelling of the aortic root in patients with Turner's syndrome | Prandstraller D; Mazzanti L; Giardini A; Lovato L; Tamburrino F; Scarano E; Cicognani A; Fattori ...R; Picchio FM | 2009-01-01 | CARDIOLOGY IN THE YOUNG | - | 1.01 Articolo in rivista | - |
| DEVELOPMENTAL SYNDROMES: GROWTH HORMONE DEFICIENCY AND TREATMENT. | Mazzanti, L; Tamburrino, F; Bergamaschi, R; Scarano, E; Montanari, F; Torella, M; Ballarini, E; C...icognani, A. | 2009-01-01 | - | Karger | 2.01 Capitolo / saggio in libro | - |
| Insulin sensitivity and acanthosis nigricans (AN) in Turner syndrome | L. Mazzanti; E. Scarano; C. Matteucci; F. Tamburrino; F. Montanari; E. Ballarini; M.C. Ragni; A. ...Cicognani | 2010-01-01 | HORMONE RESEARCH IN PAEDIATRICS | Karger | 4.02 Riassunto (Abstract) | - |
| SHOX dosage and final height (FH) in Turner syndrome (TS) treated with GH-therapy | Mazzanti L.; Nicoletti A.; Tamburrino F.; Scarano E.; Baldazzi L.; Ragni M.C.; Perri A.; De Angel...is C.; Cicognani A. | 2011-01-01 | HORMONE RESEARCH IN PAEDIATRICS | Karger | 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 | - |
| GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). | Mazzanti, L; Tamburrino, F; Scarano, E; Perri, A; Vestrucci, B; Guidetti, M; Rossi, C; Tartaglia, M | 2013-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome | Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Sal...viati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut | 2015-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data | Tamburrino, Federica; Gibertoni, Dino; Rossi, Cesare; Scarano, Emanuela; Perri, Annamaria; Montan...ari, Francesca; Fantini, Maria Pia; Pession, Andrea; Tartaglia, Marco; Mazzanti, Laura | 2015-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome | Radetti, G; Mazzanti, L.; Di Somma, C.; Salerno, M.; Gottardi, E.; Capalbo, D.; Tamburrino, F.; C...olao, A. | 2015-01-01 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | - | 1.01 Articolo in rivista | - |
| Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. | Paola, Visconti; Annio, Posar; Maria Cristina, Scaduto; Angelo, Russo; Federica, Tamburrino; Laur...a, Mazzanti. | 2016-01-01 | JOURNAL OF PEDIATRIC NEUROSCIENCES | - | 1.01 Articolo in rivista | - |
| From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks | Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano..., Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina | 2016-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders |
Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, ...Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano |
2019-01-01 | GENE | - | 1.01 Articolo in rivista | - |
| Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum | Motta M.; Pannone L.; Pantaleoni F.; Bocchinfuso G.; Radio F.C.; Cecchetti S.; Ciolfi A.; Di Rocc...o M.; Elting M.W.; Brilstra E.H.; Boni S.; Mazzanti L.; Tamburrino F.; Walsh L.; Payne K.; Fernandez-Jaen A.; Ganapathi M.; Chung W.K.; Grange D.K.; Dave-Wala A.; Reshmi S.C.; Bartholomew D.W.; Mouhlas D.; Carpentieri G.; Bruselles A.; Pizzi S.; Bellacchio E.; Piceci-Sparascio F.; Lissewski C.; Brinkmann J.; Waclaw R.R.; Waisfisz Q.; van Gassen K.; Wentzensen I.M.; Morrow M.M.; Alvarez S.; Martinez-Garcia M.; De Luca A.; Memo L.; Zampino G.; Rossi C.; Seri M.; Gelb B.D.; Zenker M.; Dallapiccola B.; Stella L.; Prada C.E.; Martinelli S.; Flex E.; Tartaglia M. | 2020-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study | Gambineri, A; Scarano, E; Rucci, P; Perri, A; Tamburrino, F; Altieri, P; Corzani, F; Cecchetti, C...; Dionese, P; Belardinelli, E; Ibarra-Gasparini, D; Menabò, S; Vicennati, V; Repaci, A; di Dalmazi, G; Pelusi, C; Zavatta, G; Virdi, A; Neri, I; Fanelli, F; Mazzanti, L; Pagotto, U | 2022-01-01 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | - | 1.01 Articolo in rivista | 40618_2022_Article_1853.pdf; 40618_2022_1853_MOESM1_ESM.pdf |
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