MAZZANTI, LAURA

MAZZANTI, LAURA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

Mazzanti L; LAURA MAZZANTI; L.MAZZANTI  

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Risultati 1 - 20 di 84 (tempo di esecuzione: 0.055 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review Garavelli L; Rosato S; Wischmeijer A; Gelmini C; Esposito A; Mazzanti L; Franchi F; De Crescenzo ...A; Palumbo O; Carella M; Riccio A. 2011-01-01 MOLECULAR SYNDROMOLOGY - 1.01 Articolo in rivista -
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cena...cchi G;Neri I;Cordelli DM;Marchiani V;Bergamaschi R;Gasparre G;Neri G;Mazzanti L;Patrizi A;Franzoni E;Romeo G;Bordo D;Tartaglia M;Katsanis N;Seri M 2014-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis Nicoletti A.; Baldazzi L.; Antelli A.; Mazzanti L.; Baronio F.; Menabò S.; Pirazzoli P.; Cicognan...i A. 2005-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
A restricted spectrum of NRAS mutations causes Noonan syndrome. Cirstea IC; Kutsche K; Dvorsky R; Gremer L; Carta C; Horn D; Roberts AE; Lepri F; Merbitz-Zahradn...ik T; König R; Kratz CP; Pantaleoni F; Dentici ML; Joshi VA; Kucherlapati RS; Mazzanti L; Mundlos S; Patton MA; Silengo MC; Rossi C; Zampino G; Digilio C; Stuppia L; Seemanova E; Pennacchio LA; Gelb BD; Dallapiccola B; Wittinghofer A; Ahmadian MR; Tartaglia M; Zenker M. 2010-01-01 NATURE GENETICS - 1.01 Articolo in rivista -
Acanthosis Nigricans (AN), Glucose Tolerance and Turner Syndrome: Influence of GH-Therapy R. Bergamaschi; L. Mazzanti; E. Scarano; I. Neri; S. Strocchi;
V. Rosetti; L. Castiglioni; F. Za...
ppulla; A. Cicognani; E. Cacciari
2004-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose Wasniewska, Malgorzata; Aversa, Tommaso; Mazzanti, Laura; Pia Guarneri, Maria; Matarazzo, Patrizi...a; De Luca, Filippo; Lombardo, Fortunato; Messina, Maria Francesca; Valenzise, Mariella 2013-01-01 EUROPEAN JOURNAL OF ENDOCRINOLOGY - 1.01 Articolo in rivista -
The association with Turner syndrome significantly affects the course of Hashimoto’s thyroiditis in children, irrespective of karyotype Aversa, Tommaso; Messina, Maria Francesca; Mazzanti, Laura; Salerno, Mariacarolina; Mussa, Alessa...ndro; Faienza, Maria Felicia; Scarano, Emanuela; De Luca, Filippo*; Wasniewska, Malgorzata 2015-01-01 ENDOCRINE - 1.01 Articolo in rivista -
AUTOIMMUNE DISEASE IN TURNER SYNDROME. Mazzanti L.; Naeraa R.W. 2006-01-01 - Elsevier 2.01 Capitolo / saggio in libro -
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 -
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 -
Cardiofaciocutaneous Syndrome (CFC): A New Case with GH-Deficit and without Mental Retardation (MR) E. Scarano; L. Mazzanti; F. Mencarelli; V. Rosetti; F. Tamburrino;
A. Cicognani; E. Cacciari
2004-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
CARE OF GIRLS AND WOMEN WITH TURNER SYNDROME: A GUIDLINE OF THE TURNER SYNDROME STUDY GROUP. TURNER SYNDROME STUDY GROUP.
Bondy CA and Turner Sindrome Study Group: Turner Sindrome Consensus...
Study Group: Neus Baena; V. K. Bakalov; B.B. Biesecker; J.C. Carel; G.Conway; M. Davenport; C. Disteche; M. F. Karnis; J. A. Germak; C.H. Gravholt; J. Foodim; D. Gunther; O. Hovatta; A.M. Kappelgard; W. Kiess; K. Landin-Wilhelmsen; A. Lin; B. Lippe; M. Loscalzo; K. Lynch; L. Mazzanti; M. M. M. Mazzocco; E. McCauley; P. McDonough; S.M.P.F. de Muinck Keizer-Schrama; R. W. Naeraa; C. Quigley; R. Rosenfield; D. Rosing; J. Ross; D. Roulot; K. Rubin; P. Saenger; P. Schmidt; M. Silberbach; V. Sybert; D. L. Van Dyke; A. Zinn.
2007-01-01 THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM - 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 -
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 -
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 -
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 -
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 -
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 -
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 cts.12908.pdf
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation Graziano C.; D'Elia AV.; Mazzanti L.; Moscano F.; Guidelli Guidi S.; Scarano E.; Turchetti D.; Fr...anzoni E.; Romeo G.; Damante G.; Seri M. 2007-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -