MAZZANTI, LAURA
MAZZANTI, LAURA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Mazzanti L; LAURA MAZZANTI; L.MAZZANTI
22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review
2011 Garavelli L; Rosato S; Wischmeijer A; Gelmini C; Esposito A; Mazzanti L; Franchi F; De Crescenzo A; Palumbo O; Carella M; Riccio A.
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation
2007 Graziano C.; D'Elia AV.; Mazzanti L.; Moscano F.; Guidelli Guidi S.; Scarano E.; Turchetti D.; Franzoni E.; Romeo G.; Damante G.; Seri M.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
2014 Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cenacchi 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
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS.
2005 Nicoletti A.; Baldazzi L.; Antelli A.; Mazzanti L.; Baronio F.; Menabò S.; Pirazzoli P.
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis
2005 Nicoletti A.; Baldazzi L.; Antelli A.; Mazzanti L.; Baronio F.; Menabò S.; Pirazzoli P.; Cicognani A.
A restricted spectrum of NRAS mutations causes Noonan syndrome.
2010 Cirstea IC; Kutsche K; Dvorsky R; Gremer L; Carta C; Horn D; Roberts AE; Lepri F; Merbitz-Zahradnik 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.
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
2014 Ansari, Morad; Rainger, Jacqueline K.; Murray, Jennie E.; Hanson, Isabel; Firth, Helen V.; Mehendale, Felicity; Amiel, Jeanne; Gordon, Christopher T.; Percesepe, Antonio; Mazzanti, Laura; Fryer, Alan; Ferrari, Paola; Devriendt, Koenraad; Temple, I. Karen; Fitzpatrick, David R.
Acanthosis Nigricans (AN), Glucose Tolerance and Turner Syndrome: Influence of GH-Therapy
2004 R. Bergamaschi; L. Mazzanti; E. Scarano; I. Neri; S. Strocchi; V. Rosetti; L. Castiglioni; F. Zappulla; A. Cicognani; E. Cacciari
Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose
2013 Wasniewska, Malgorzata; Aversa, Tommaso; Mazzanti, Laura; Pia Guarneri, Maria; Matarazzo, Patrizia; De Luca, Filippo; Lombardo, Fortunato; Messina, Maria Francesca; Valenzise, Mariella
AUTOIMMUNE DISEASE IN TURNER SYNDROME.
2006 Mazzanti L.; Naeraa R.W.
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.
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview
2016 De Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.*
Cardiofaciocutaneous Syndrome (CFC): A New Case with GH-Deficit and without Mental Retardation (MR)
2004 E. Scarano; L. Mazzanti; F. Mencarelli; V. Rosetti; F. Tamburrino; A. Cicognani; E. Cacciari
CARE OF GIRLS AND WOMEN WITH TURNER SYNDROME: A GUIDLINE OF THE TURNER SYNDROME STUDY GROUP.
2007 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.
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
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;]
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.
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
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
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
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 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 | - |
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 LERI-WEIL DYSCHONDROSTEOSIS. | Nicoletti A.; Baldazzi L.; Antelli A.; Mazzanti L.; Baronio F.; Menabò S.; Pirazzoli P. | 2005-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
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 | - |
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX | Ansari, Morad; Rainger, Jacqueline K.; Murray, Jennie E.; Hanson, Isabel; Firth, Helen V.; Mehend...ale, Felicity; Amiel, Jeanne; Gordon, Christopher T.; Percesepe, Antonio; Mazzanti, Laura; Fryer, Alan; Ferrari, Paola; Devriendt, Koenraad; Temple, I. Karen; Fitzpatrick, David R. | 2014-01-01 | EUROPEAN JOURNAL OF MEDICAL 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 | - |
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 | - |