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Mostrati risultati da 21 a 40 di 86
Titolo Autore(i) Anno Periodico Editore Tipo File
Rare Syndromes and Hormones Noonan syndrome and PTPN11 mutations: clinical findings and growth follow-up with long-term GH therapy L. Mazzanti; E. Scarano; R. Bergamaschi;
C.Rossi; C. Matteucci; F. Tamburrino;
P. Pirazzoli; F.... Mencarelli; A. Cicognani 		2007-01-01 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 -
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Zollino M; Murdolo M; Marangi G; Pecile V; Galasso C; Mazzanti L; Neri G. 2008-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS - 1.01 Articolo in rivista -
Hearing loss in Turner syndrome: results of a multicentric study. Bergamaschi R; Bergonzoni C; Mazzanti L; Scarano E; Mencarelli F; Messina F;Rosano M; Iughetti L;... Cicognani A. 2008-01-01 JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION - 1.01 Articolo in rivista -
GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM. A. Sarkozy; C. Carta; S. Moretti; G. Zampino; M.C. Digilio; F. Pantaleoni; A.P. Scioletti; G. Esp...osito; V. Cordeddu; F. Lepri; V. Petrangeli; M.L. Dentici; G.M. Mancini; A. Selicorni; C. Rossi; L. Mazzanti; B. Marino; G:B. Ferrero; M.C. Silengo; L. Memo; F. Stanzial; F. Faravelli; L. Stuppia; E. Puxeddu; B.D. Gelb; B. Dallapiccola; M. Tartaglia. 2009-01-01 HUMAN MUTATION - 1.01 Articolo in rivista -
Gastro-intestinal disease in Turner syndrome Mazzanti L 2009-01-01 - Claus H. Gravholt 2.01 Capitolo / saggio in libro -
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature Garavelli L.; Zollino M.; Cerruti Mainardi P.; Gurrieri F.; Rivieri F.; Soli F.; Verri R.; Albert...ini E.; Favaron E.; Zignani M.; Orteschi D.; Bianchi P.; Faravelli F.; Forzano F.; Seri M.; Wischmeijer A.; Turchetti D.; Pompilii E.; Gnoli M.; Cocchi G.; Mazzanti L.; Bergamaschi R.; De Brasi D.; Sperandeo M.P.; Mari F.; Uliana V.; Mostardini R.; Cecconi M.; Grasso M.; Sassi S.; Sebastio G.; Renieri A.; Silengo M.; Bernasconi S.; Wakamatsu N.; Neri G. 2009-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 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 -
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 -
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Cordeddu V.; Di Schiavi E.; Pennacchio L.A.; Ma'ayan A.; Sarkozy A.; Fodale V.; Cecchetti S.; Car...dinale A.; Martin J.; Schackwitz W.; Lipzen A.; Zampino G.; Mazzanti L.; Digilio M.C.; Martinelli S.; Flex E.; Lepri F.; Bartholdi D.; Kutsche K.; Ferrero G.B.; Anichini C.; Selicorni A.; Rossi C.; Tenconi R.; Zenker M.; Merlo D.; Dallapiccola B.; Iyengar R.; Bazzicalupo P.; Gelb B.D.; Tartaglia M. 2009-01-01 NATURE GENETICS - 1.01 Articolo in rivista -
TUTELA DELLA FERTILITÀ NELLE PAZIENTI AFFETTA DA SINDROME DI TURNER Porcu E; Mazzanti L; Cipriani L; Damiano G; Bianchi A; Albonetti F; Zorzi C; Dirodi M; Amicucci S...; Landolfo C; Venturoli S. T 2010-01-01 - Editors Foresta, Lenzi, Ferlin, Garolla 4.01 Contributo in Atti di convegno -
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Martinelli S; De Luca A; Stellacci E; Rossi C; Checquolo S; Lepri F; Caputo V; Silvano M; Buscher...ini F; Consoli F; Ferrara G; Digilio MC; Cavaliere ML; van Hagen JM; Zampino G; van der Burgt I; Ferrero GB; Mazzanti L; Screpanti I; Yntema HG; Nillesen WM; Savarirayan R; Zenker M; Dallapiccola B; Gelb BD; Tartaglia M. 2010-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
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 -
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) -
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. Wischmeijer A;Magini P;Giorda R;Gnoli M;Ciccone R;Cecconi L;Franzoni E;Mazzanti L;Romeo G;Zuffard...i O;Seri M 2011-01-01 MOLECULAR SYNDROMOLOGY - 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 Angel...is C.; Cicognani A. 2011-01-01 HORMONE RESEARCH IN PAEDIATRICS Karger 4.02 Riassunto (Abstract) -
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). Nicoletti A.; Mazzanti L.; Pirazzoli P.; Menabò S.; Boccone L.; Scarano E.; Cicognani A. 2011-01-01 HORMONE RESEARCH IN PAEDIATRICS Karger 4.02 Riassunto (Abstract) -
Laminopathies: Many diseases, one gene. Report of the first Italian meeting course on laminopathies Lattanzi G; Benedetti S; Bertini E; Boriani G; Mazzanti L; Novelli G; Pasquali R; Pini A; Politan...o L. 2011-01-01 ACTA MYOLOGICA - 1.01 Articolo in rivista -
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Lepri F; De Luca A; Stella L; Rossi C; Baldassarre G; Pantaleoni F; Cordeddu V; Williams BJ; Dent...ici ML; Caputo V; Venanzi S; Bonaguro M; Kavamura I; Faienza MF; Pilotta A; Stanzial F; Faravelli F; Gabrielli O; Marino B; Neri G; Silengo MC; Ferrero GB; Torrrente I; Selicorni A; Mazzanti L; Digilio MC; Zampino G; Dallapiccola B; Gelb BD; Tartaglia M. 2011-01-01 HUMAN MUTATION - 1.01 Articolo in rivista -
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 -
Mostrati risultati da 21 a 40 di 86
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