TAMBURRINO, FEDERICA

TAMBURRINO, FEDERICA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

Risultati 1 - 14 di 14 (tempo di esecuzione: 0.005 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
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 -
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 -
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 -
DEVELOPMENTAL SYNDROMES: GROWTH HORMONE DEFICIENCY AND TREATMENT. Mazzanti, L; Tamburrino, F; Bergamaschi, R; Scarano, E; Montanari, F; Torella, M; Ballarini, E; Cicognani, A. 2009-01-01 - Karger 2.01 Capitolo / saggio in libro -
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 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. 2020-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 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.; Colao, A. 2015-01-01 JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION - 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 -
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 -
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) -
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) -
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; 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 2015-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. Paola, Visconti; Annio, Posar; Maria Cristina, Scaduto; Angelo, Russo; Federica, Tamburrino; Laura, Mazzanti. 2016-01-01 JOURNAL OF PEDIATRIC NEUROSCIENCES - 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; Montanari, 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 -
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 Angelis C.; Cicognani A. 2011-01-01 HORMONE RESEARCH IN PAEDIATRICS Karger 4.02 Riassunto (Abstract) -