MAZZANTI, LAURA
MAZZANTI, LAURA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Mazzanti L; LAURA MAZZANTI; L.MAZZANTI
COVID-19 and Immunological Dysregulation: Can Autoantibodies be Useful?
2021 Pascolini S.; Vannini A.; Deleonardi G.; Ciordinik M.; Sensoli A.; Carletti I.; Veronesi L.; Ricci C.; Pronesti A.; Mazzanti L.; Grondona A.; Silvestri T.; Zanuso S.; Mazzolini M.; Lalanne C.; Quarneti C.; Fusconi M.; Giostra F.; Granito A.; Muratori L.; Lenzi M.; Muratori P.
Corrigendum to “Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders” [Gene 706 (2019) 162–171](S037811191930469X)(10.1016/j.gene.2019.05.007)
2020 Magini Pamela; Scarano Emanuela; Donati I.; Sensi A.; Mazzanti Laura; Perri Annamaria; Tamburrino Federica; Mongelli P.; Percesepe A.; Visconti Paola; Parmeggiani Antonia; Seri Marco; Graziano Claudio
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.
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
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
2019 Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Graziano C.
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)
2018 Marco Bonomi; Valeria Vezzoli; Csilla Krausz; Fabiana Guizzardi; Silvia Vezzani; Manuela Simoni; Ivan Bassi; Paolo Duminuco; Natascia Di Iorgi; Claudia Giavoli; Alessandro Pizzocaro; Gianni Russo; Mirella Moro; Letizia Fatti; Alberto Ferlin; Laura Mazzanti; Maria Chiara Zatelli; Salvo Cannavò; Andrea M Isidori; Angela Ida Pincelli; Flavia Prodam; Antonio Mancini; Paolo Limone; Maria Laura Tanda; Rossella Gaudino; Mariacarolina Salerno; Pregnolato Francesca; Mohamad Maghnie; Mario Maggi; Luca Persani; Italian Network on Central Hypogonadism […; A. Cassio; …; S. Zucchini;]
New insights on diabetes in Turner syndrome: results from an observational study in adulthood
2018 Ibarra-Gasparini, Daniela; Altieri, Paola; Scarano, Emanuela; Perri, Annamaria; Morselli-Labate, Antonio M; Pagotto, Uberto; Mazzanti, Laura; Pasquali, Renato; Gambineri, Alessandra
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.
2017 De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, Chung HB, David A, Kariminejad A, Foresti M, Gallottini M, Isidor B, Marchegiani S, Martins F, Mazzanti L, Roche N, Singh A, Stevens C, Suga K, Zenker M, Hennekam RC.
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
2017 Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF, Bamba V, Brobin B, Braverman AC, Lesley L Breech LL, Brickman WJ, Brown NM, Bryant N, Cernich JT, Chernausek S, Christin-Maitre S, Corathers SD, Crawford A, Crenshaw ML, Davenport ML, de Backer J, Eagle K, Gawlik A, Gutmark-Little I, Hay D, Hiratzka L, Hong DS, Hovatta O, Hultcrantz M, Johnson WH Jr, Kanaka-Gantenbein C, Karnis MF, Knickmeyer RC, Kristrøm B, Lajiness-O’Neill RR, Landin-Wilhelmsen K, Law JR, Lippe B, Lopez L, Mawson L, Mazzanti L, Mortensen KH, Popovic J, Prakash S, Ranallo KC, Rappold GA, Roos-Hesselink J, Rosenfield R, Ross J, Roulot-Marullo D, Saidi A, Santen RJ, Scurlock CC, Sheanon NM, Smyth A, van Hagen IM, Verlinde F, Wasniewska M and Young LT.
The influence of gh treatment on glucose homeostasis in girls with turner syndrome: A 7-year study
2017 Baronio, Federico; Mazzanti, Laura; Girtler, Ylenia; Tamburrino, Federica; Lupi, Fiorenzo; Longhi, Silvia; Fanolla, Antonio; Radetti, Giorgio
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview
2016 De Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.*
Disorders of glucose metabolism in Prader–Willi syndrome: Results of a multicenter Italian cohort study
2016 Fintini, D; Grugni, G.; Bocchini, S.; Brufani, C.; Di Candia, S.; Corrias, A.; Delvecchio, M.; Salvatoni, A.; Ragusa, L.; Greggio, N.; Franzese, A.; Scarano, E.; Trifirò, G.; Mazzanti, Laura; Chiumello, G.; Cappa, M.; Crinò, A.
Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study
2016 Cappa, M.; Iughetti, L.; Loche, S.; Maghnie, M.; Vottero, A.* Antoniazzi F, Beccaria L, Bernasconi S, Caggiano D, Caruso-Nicoletti M, Catucci A, Chiarelli F, Cianfarani S, Colucci AR, De Rienzo F, Di Pumpo R, Di Stasio A, Farello G, Felici L, Femiano P, Garagantini L, Giavoli C, Greggio NA, Guazzarotti L, Larizza D, Licenziati MR, Lonero A, Maggio MC, Marsciani A, Matarazzo P, Mazzanti L, Messini B, Napoli F, Pasquino AM, Perrone L, Pilia S, Pilotta A, Piran M, Pozzobon G, Predieri B, Sacco M, Salerno M, Tirendi A, Ubertini G, Vannelli S, Wasniewska M, Zampolli M, Zanotti M, Zuccotti G,
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
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption
2016 De Sanctis, L; Giachero, F.; Mantovani, G.; Weber, G.; Salerno, M.; Baroncelli, G. I.; Elli, M. F.; Matarazzo, P.; Wasniewska, M.; Mazzanti, Laura; Scirè, G.; Tessaris, D.
Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX)
2016 Lilia Baldazzi, Soara Menabo', Federico Baronio, Rita Ortolano, Alessandra Cassio, Laura Mazzanti, Antonio Balsamo
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient
2016 Menabò, S; Boccassini, S; Gambineri, A; Balsamo, A; Pasquali, R; Prontera, O; Mazzanti, L; Baldazzi, L
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism.
2016 Paola, Visconti; Annio, Posar; Maria Cristina, Scaduto; Angelo, Russo; Federica, Tamburrino; Laura, Mazzanti.
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism
2016 Elli, Francesca Marta; Bordogna, Paolo; De Sanctis, Luisa; Giachero, Federica; Verrua, Elisa; Segni, Maria; Mazzanti, Laura; Boldrin, Valentina; Toromanovic, Alma; Spada, Anna; Mantovani, Giovanna*
Stories of experiences of care for growth hormone deficiency: the CRESCERE project
2016 Marini, Maria G; Chesi, Paola; Mazzanti, Laura; Guazzarotti, Laura; Toni, Teresa D; Salerno, Maria C; Officioso, Annunziata; Parpagnoli, Maria; Angeletti, Cristina; Faienza, Maria F; Iezzi, Maria L; Aversa, Tommaso; Sacchetti, Cinzia
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| COVID-19 and Immunological Dysregulation: Can Autoantibodies be Useful? | Pascolini S.; Vannini A.; Deleonardi G.; Ciordinik M.; Sensoli A.; Carletti I.; Veronesi L.; Ricc...i C.; Pronesti A.; Mazzanti L.; Grondona A.; Silvestri T.; Zanuso S.; Mazzolini M.; Lalanne C.; Quarneti C.; Fusconi M.; Giostra F.; Granito A.; Muratori L.; Lenzi M.; Muratori P. | 2021-01-01 | CLINICAL AND TRANSLATIONAL SCIENCE | - | 1.01 Articolo in rivista | h_11585_806275.pdf; cts12908-sup-0001-supinfo.pdf |
| Corrigendum to “Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders” [Gene 706 (2019) 162–171](S037811191930469X)(10.1016/j.gene.2019.05.007) | Magini Pamela; Scarano Emanuela; Donati I.; Sensi A.; Mazzanti Laura; Perri Annamaria; Tamburrino... Federica; Mongelli P.; Percesepe A.; Visconti Paola; Parmeggiani Antonia; Seri Marco; Graziano Claudio | 2020-01-01 | 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 | - |
| 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 | - |
| HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype | Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Grazi...ano C. | 2019-01-01 | CYTOGENETIC AND GENOME RESEARCH | - | 1.01 Articolo in rivista | - |
| Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) | Marco Bonomi; Valeria Vezzoli; Csilla Krausz; Fabiana Guizzardi; Silvia Vezzani; Manuela Simoni; ...Ivan Bassi; Paolo Duminuco; Natascia Di Iorgi; Claudia Giavoli; Alessandro Pizzocaro; Gianni Russo; Mirella Moro; Letizia Fatti; Alberto Ferlin; Laura Mazzanti; Maria Chiara Zatelli; Salvo Cannavò; Andrea M Isidori; Angela Ida Pincelli; Flavia Prodam; Antonio Mancini; Paolo Limone; Maria Laura Tanda; Rossella Gaudino; Mariacarolina Salerno; Pregnolato Francesca; Mohamad Maghnie; Mario Maggi; Luca Persani; Italian Network on Central Hypogonadism […; A. Cassio; …; S. Zucchini;] | 2018-01-01 | EUROPEAN JOURNAL OF ENDOCRINOLOGY | - | 1.01 Articolo in rivista | - |
| New insights on diabetes in Turner syndrome: results from an observational study in adulthood | Ibarra-Gasparini, Daniela; Altieri, Paola; Scarano, Emanuela; Perri, Annamaria; Morselli-Labate, ...Antonio M; Pagotto, Uberto; Mazzanti, Laura; Pasquali, Renato; Gambineri, Alessandra | 2018-01-01 | ENDOCRINE | - | 1.01 Articolo in rivista | - |
| Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. | De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, Chung HB, David A, Kariminej...ad A, Foresti M, Gallottini M, Isidor B, Marchegiani S, Martins F, Mazzanti L, Roche N, Singh A, Stevens C, Suga K, Zenker M, Hennekam RC. | 2017-01-01 | MOLECULAR SYNDROMOLOGY | - | 1.01 Articolo in rivista | - |
| Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. |
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley ...CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF, Bamba V, Brobin B, Braverman AC, Lesley L Breech LL, Brickman WJ, Brown NM, Bryant N, Cernich JT, Chernausek S, Christin-Maitre S, Corathers SD, Crawford A, Crenshaw ML, Davenport ML, de Backer J, Eagle K, Gawlik A, Gutmark-Little I, Hay D, Hiratzka L, Hong DS, Hovatta O, Hultcrantz M, Johnson WH Jr, Kanaka-Gantenbein C, Karnis MF, Knickmeyer RC, Kristrøm B, Lajiness-O’Neill RR, Landin-Wilhelmsen K, Law JR, Lippe B, Lopez L, Mawson L, Mazzanti L, Mortensen KH, Popovic J, Prakash S, Ranallo KC, Rappold GA, Roos-Hesselink J, Rosenfield R, Ross J, Roulot-Marullo D, Saidi A, Santen RJ, Scurlock CC, Sheanon NM, Smyth A, van Hagen IM, Verlinde F, Wasniewska M and Young LT. |
2017-01-01 | EUROPEAN JOURNAL OF ENDOCRINOLOGY | - | 1.01 Articolo in rivista | - |
| The influence of gh treatment on glucose homeostasis in girls with turner syndrome: A 7-year study | Baronio, Federico; Mazzanti, Laura; Girtler, Ylenia; Tamburrino, Federica; Lupi, Fiorenzo; Longhi..., Silvia; Fanolla, Antonio; Radetti, Giorgio | 2017-01-01 | THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM | - | 1.01 Articolo in rivista | - |
| Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview | De Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.* | 2016-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Disorders of glucose metabolism in Prader–Willi syndrome: Results of a multicenter Italian cohort study | Fintini, D; Grugni, G.; Bocchini, S.; Brufani, C.; Di Candia, S.; Corrias, A.; Delvecchio, M.; Sa...lvatoni, A.; Ragusa, L.; Greggio, N.; Franzese, A.; Scarano, E.; Trifirò, G.; Mazzanti, Laura; Chiumello, G.; Cappa, M.; Crinò, A. | 2016-01-01 | NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES | - | 1.01 Articolo in rivista | - |
| Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study |
Cappa, M.; Iughetti, L.; Loche, S.; Maghnie, M.; Vottero, A.* Antoniazzi F, Beccaria L, Bernasco...ni S, Caggiano D, Caruso-Nicoletti M, Catucci A, Chiarelli F, Cianfarani S, Colucci AR, De Rienzo F, Di Pumpo R, Di Stasio A, Farello G, Felici L, Femiano P, Garagantini L, Giavoli C, Greggio NA, Guazzarotti L, Larizza D, Licenziati MR, Lonero A, Maggio MC, Marsciani A, Matarazzo P, Mazzanti L, Messini B, Napoli F, Pasquino AM, Perrone L, Pilia S, Pilotta A, Piran M, Pozzobon G, Predieri B, Sacco M, Salerno M, Tirendi A, Ubertini G, Vannelli S, Wasniewska M, Zampolli M, Zanotti M, Zuccotti G, |
2016-01-01 | 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 | - |
| Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption | De Sanctis, L; Giachero, F.; Mantovani, G.; Weber, G.; Salerno, M.; Baroncelli, G. I.; Elli, M. F....; Matarazzo, P.; Wasniewska, M.; Mazzanti, Laura; Scirè, G.; Tessaris, D. | 2016-01-01 | THE ITALIAN JOURNAL OF PEDIATRICS | - | 1.01 Articolo in rivista | - |
| Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX) |
Lilia Baldazzi, Soara Menabo', Federico Baronio, Rita Ortolano, Alessandra Cassio, Laura Mazzant...i, Antonio Balsamo |
2016-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 1.06 Abstract in rivista | - |
| Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient | Menabò, S; Boccassini, S; Gambineri, A; Balsamo, A; Pasquali, R; Prontera, O; Mazzanti, L; Baldaz...zi, L | 2016-01-01 | 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 | - |
| Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism | Elli, Francesca Marta; Bordogna, Paolo; De Sanctis, Luisa; Giachero, Federica; Verrua, Elisa; Seg...ni, Maria; Mazzanti, Laura; Boldrin, Valentina; Toromanovic, Alma; Spada, Anna; Mantovani, Giovanna* | 2016-01-01 | JOURNAL OF BONE AND MINERAL RESEARCH | - | 1.01 Articolo in rivista | - |
| Stories of experiences of care for growth hormone deficiency: the CRESCERE project | Marini, Maria G; Chesi, Paola; Mazzanti, Laura; Guazzarotti, Laura; Toni, Teresa D; Salerno, Mari...a C; Officioso, Annunziata; Parpagnoli, Maria; Angeletti, Cristina; Faienza, Maria F; Iezzi, Maria L; Aversa, Tommaso; Sacchetti, Cinzia | 2016-01-01 | FUTURE SCIENCE OA | - | 1.01 Articolo in rivista | - |