Sfoglia per Autore
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.
2011 Wischmeijer A;Magini P;Giorda R;Gnoli M;Ciccone R;Cecconi L;Franzoni E;Mazzanti L;Romeo G;Zuffardi O;Seri M
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair
2012 Ferrero, Giovanni Battista; Picco, Gabriele; Baldassarre, Giuseppina; Flex, Elisabetta; Isella, Claudio; Cantarella, Daniela; Corà, Davide; Chiesa, Nicoletta; Crescenzio, Nicoletta; Timeus, Fabio; Merla, Giuseppe; Mazzanti, Laura; Zampino, Giuseppe; Rossi, Cesare; Silengo, Margherita; Tartaglia, Marco; Medico, Enzo
The empowerment of translational research: lessons from laminopathies.
2012 Benedetti S; Bernasconi P; Bertini E; Biagini E; Boriani G; Capanni C; Carboni N; Cenacchi G; Columbaro M; D'Adamo M; D'Amico A; D'Apice MR; Fontana M; Gambineri A; Lattanzi G; Liguori R; Maraldi NM; Mazzanti L; Mercuri E; Mongini T; Morandi LO; Neri I; Nigro G; Novelli G; Ortolani M; Pasquali R; Pini A; Petrini S; Politano L; Previtali S; Pucci L; Rapezzi C; Ricci G; Rodolico C; Sbraccia P; Scarano E; Siciliano G; Squarzoni S; Toscano A; Vercelli L; Ziacchi M
Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.
2012 Iughetti, L; Vannelli, S; Street, Me; Pirazzoli, P; Bertelloni, S; Radetti, G; Capone, L; Stasiowska, B; Mazzanti, L; Gastaldi, R; Maggio, Mc; Predieri, B.
Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques.
2012 Mazzanti L; Lovato L; Prandstraller D; Scarano E; Tamburrino F; Montanari F; Mineo GG; Perri A; Vestrucci B; Giardini A.
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche.
2012 Nicoletti A; Mazzanti L.; Menabò S.; Scarano E.; Tamburrino F.; Cangemi G.; Pirazzoli P.; Baldazzi L
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
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype.
2013 Cordelli DM; Garavelli L; Savasta S; Guerra A; Pellicciari A; Giordano L; Bonetti S; Cecconi I; Wischmeijer A; Seri M; Rosato S; Gelmini C; Della Giustina E; Ferrari AR; Zanotta N; Epifanio R; Grioni D; Malbora B; Mammi I; Mari F; Buoni S; Mostardini R; Grosso S; Pantaleoni C; Doz M; Poch-Olivé ML; Rivieri F; Sorge G; Simonte G; Licata F; Tarani L; Terazzi E; Mazzanti L; Cerruti Mainardi P; Boni A; Faravelli F; Grasso M; Bianchi P; Zollino M; Franzoni E.
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes kaufman oculocerebrofacial syndrome
2013 Flex, Elisabetta; Ciolfi, Andrea; Caputo, Viviana; Fodale, Valentina; Leoni, Chiara; Melis, Daniela; Bedeschi, Maria Francesca; Mazzanti, Laura; Pizzuti, Antonio; Tartaglia, Marco; Zampino, Giuseppe
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results.
2013 Balsamo A.; Menabò S.; Wasniewska M.; Mirabelli S.; Nicoletti A.; Marsigli A.; Rinaldini D.; De Luca F.; Mazzanti L.; Baldazzi L.
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
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).
2013 Mazzanti, L; Tamburrino, F; Scarano, E; Perri, A; Vestrucci, B; Guidetti, M; Rossi, C; Tartaglia, M
Epidemiology, presentation and long-term evolution of graves' disease in children, adolescents and young adults with turner syndrome
2014 Valenzise, Mariella; Aversa, Tommaso; Corrias, Andrea; Mazzanti, Laura; Cappa, Marco; Ubertini, Graziamaria; Scarano, Emanuela; Mussa, Alessandro; Messina, Maria Francesca; De Luca, Filippo; Wasniewska, Malgorzata
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.
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
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
2014 Micale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusco, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola; Lapi, Elisabetta; Neri, Marcella; Ferlini, Alessandra; Cavaliere, Maria Luigia; Chiurazzi, Pietro; Monica, Matteo Della; Scarano, Gioacchino; Faravelli, Francesca; Ferrari, Paola; Mazzanti, Laura; Pilotta, Alba; Patricelli, Maria Grazia; Bedeschi, Maria Francesca; Benedicenti, Francesco; Prontera, Paolo; Toschi, Benedetta; Salviati, Leonardo; Melis, Daniela; Di Battista, Eliana; Vancini, Alessandra; Garavelli, Livia; Zelante, Leopoldo; Merla, Giuseppe
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
2015 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
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data
2015 Tamburrino, Federica; Gibertoni, Dino; Rossi, Cesare; Scarano, Emanuela; Perri, Annamaria; Montanari, Francesca; Fantini, Maria Pia; Pession, Andrea; Tartaglia, Marco; Mazzanti, Laura
Growth hormone treatment of adolescents with growth hormone deficiency (GHD) during the transition period: Results of a survey among adult and paediatric endocrinologists from Italy. Endorsed by SIEDP/ISPED, AME, SIE, SIMA
2015 Aimaretti, G; Attanasio, R.; Cannavò, S.; Nicoletti, M.C.; Castello, R.; Di Somma, C.; Garofalo, P.; Iughetti, L.; Loche, S.; Maghnie, M.; Mazzanti, L.; Saggese, G.; Salerno, M.; Tonini, G.; Toscano, V.; Zucchini, S.; Cappa, M.
Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome
2015 Radetti, G; Mazzanti, L.; Di Somma, C.; Salerno, M.; Gottardi, E.; Capalbo, D.; Tamburrino, F.; Colao, A.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| 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 | - |
| Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair | Ferrero, Giovanni Battista; Picco, Gabriele; Baldassarre, Giuseppina; Flex, Elisabetta; Isella, C...laudio; Cantarella, Daniela; Corà, Davide; Chiesa, Nicoletta; Crescenzio, Nicoletta; Timeus, Fabio; Merla, Giuseppe; Mazzanti, Laura; Zampino, Giuseppe; Rossi, Cesare; Silengo, Margherita; Tartaglia, Marco; Medico, Enzo | 2012-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| The empowerment of translational research: lessons from laminopathies. | Benedetti S; Bernasconi P; Bertini E; Biagini E; Boriani G; Capanni C; Carboni N; Cenacchi G; Col...umbaro M; D'Adamo M; D'Amico A; D'Apice MR; Fontana M; Gambineri A; Lattanzi G; Liguori R; Maraldi NM; Mazzanti L; Mercuri E; Mongini T; Morandi LO; Neri I; Nigro G; Novelli G; Ortolani M; Pasquali R; Pini A; Petrini S; Politano L; Previtali S; Pucci L; Rapezzi C; Ricci G; Rodolico C; Sbraccia P; Scarano E; Siciliano G; Squarzoni S; Toscano A; Vercelli L; Ziacchi M | 2012-01-01 | ORPHANET JOURNAL OF RARE DISEASES | - | 1.01 Articolo in rivista | Lattanzi Orphanet 2012.pdf |
| Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy. | Iughetti, L; Vannelli, S; Street, Me; Pirazzoli, P; Bertelloni, S; Radetti, G; Capone, L; Stasiow...ska, B; Mazzanti, L; Gastaldi, R; Maggio, Mc; Predieri, B. | 2012-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 1.01 Articolo in rivista | - |
| Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques. | Mazzanti L; Lovato L; Prandstraller D; Scarano E; Tamburrino F; Montanari F; Mineo GG; Perri A; V...estrucci B; Giardini A. | 2012-01-01 | PEDIATRIC ENDOCRINOLOGY REVIEW | - | 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 | - |
| 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 | - |
| Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. | Cordelli DM; Garavelli L; Savasta S; Guerra A; Pellicciari A; Giordano L; Bonetti S; Cecconi I; W...ischmeijer A; Seri M; Rosato S; Gelmini C; Della Giustina E; Ferrari AR; Zanotta N; Epifanio R; Grioni D; Malbora B; Mammi I; Mari F; Buoni S; Mostardini R; Grosso S; Pantaleoni C; Doz M; Poch-Olivé ML; Rivieri F; Sorge G; Simonte G; Licata F; Tarani L; Terazzi E; Mazzanti L; Cerruti Mainardi P; Boni A; Faravelli F; Grasso M; Bianchi P; Zollino M; Franzoni E. | 2013-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Loss of function of the E3 ubiquitin-protein ligase UBE3B causes kaufman oculocerebrofacial syndrome | Flex, Elisabetta; Ciolfi, Andrea; Caputo, Viviana; Fodale, Valentina; Leoni, Chiara; Melis, Danie...la; Bedeschi, Maria Francesca; Mazzanti, Laura; Pizzuti, Antonio; Tartaglia, Marco; Zampino, Giuseppe | 2013-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | - |
| Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. | Balsamo A.; Menabò S.; Wasniewska M.; Mirabelli S.; Nicoletti A.; Marsigli A.; Rinaldini D.; De L...uca F.; Mazzanti L.; Baldazzi L. | 2013-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 1.06 Abstract 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 | - |
| 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 | - |
| Epidemiology, presentation and long-term evolution of graves' disease in children, adolescents and young adults with turner syndrome | Valenzise, Mariella; Aversa, Tommaso; Corrias, Andrea; Mazzanti, Laura; Cappa, Marco; Ubertini, G...raziamaria; Scarano, Emanuela; Mussa, Alessandro; Messina, Maria Francesca; De Luca, Filippo; Wasniewska, Malgorzata | 2014-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 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 | - |
| 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 | - |
| Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients | Micale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusc...o, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola; Lapi, Elisabetta; Neri, Marcella; Ferlini, Alessandra; Cavaliere, Maria Luigia; Chiurazzi, Pietro; Monica, Matteo Della; Scarano, Gioacchino; Faravelli, Francesca; Ferrari, Paola; Mazzanti, Laura; Pilotta, Alba; Patricelli, Maria Grazia; Bedeschi, Maria Francesca; Benedicenti, Francesco; Prontera, Paolo; Toschi, Benedetta; Salviati, Leonardo; Melis, Daniela; Di Battista, Eliana; Vancini, Alessandra; Garavelli, Livia; Zelante, Leopoldo; Merla, Giuseppe | 2014-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| 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; Sal...viati, 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 | - |
| 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; Montan...ari, 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 | - |
| Growth hormone treatment of adolescents with growth hormone deficiency (GHD) during the transition period: Results of a survey among adult and paediatric endocrinologists from Italy. Endorsed by SIEDP/ISPED, AME, SIE, SIMA | Aimaretti, G; Attanasio, R.; Cannavò, S.; Nicoletti, M.C.; Castello, R.; Di Somma, C.; Garofalo, ...P.; Iughetti, L.; Loche, S.; Maghnie, M.; Mazzanti, L.; Saggese, G.; Salerno, M.; Tonini, G.; Toscano, V.; Zucchini, S.; Cappa, M. | 2015-01-01 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | - | 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.; C...olao, A. | 2015-01-01 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | - | 1.01 Articolo in rivista | - |
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