Works matching AU Mazzanti, Laura

Results: 92
    1

    From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

    Published in:
    Human Mutation, 2016, v. 37, n. 2, p. 175, doi. 10.1002/humu.22922
    By:
    • 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
    Publication type:
    Article
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    Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair.

    Published in:
    Human Mutation, 2012, v. 33, n. 4, p. 703, doi. 10.1002/humu.22026
    By:
    • 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
    Publication type:
    Article
    3

    Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum.

    Published in:
    Human Mutation, 2009, v. 30, n. 4, p. 695, doi. 10.1002/humu.20955
    By:
    • Sarkozy, Anna;
    • Carta, Claudio;
    • Moretti, Sonia;
    • Zampino, Giuseppe;
    • Digilio, Maria C.;
    • Pantaleoni, Francesca;
    • Scioletti, Anna Paola;
    • Esposito, Giorgia;
    • Cordeddu, Viviana;
    • Lepri, Francesca;
    • Petrangeli, Valentina;
    • Dentici, Maria L.;
    • Mancini, Grazia M.S.;
    • Selicorni, Angelo;
    • Rossi, Cesare;
    • Mazzanti, Laura;
    • Marino, Bruno;
    • Ferrero, Giovanni B.;
    • Silengo, Margherita Cirillo;
    • Memo, Luigi
    Publication type:
    Article
    4

    Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.

    Published in:
    Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.761171
    By:
    • Libraro, Annachiara;
    • D'Ascanio, Vito;
    • Cappa, Marco;
    • Chiarito, Mariangela;
    • Digilio, Maria Cristina;
    • Einaudi, Silvia;
    • Grandone, Anna;
    • Maghnie, Mohamad;
    • Mazzanti, Laura;
    • Mussa, Alessandro;
    • Patti, Giuseppa;
    • Scarano, Emanuela;
    • Spinuzza, Antonietta;
    • Vannelli, Silvia;
    • Wasniewska, Malgorzata Gabriela;
    • Ferrero, Giovanni Battista;
    • Faienza, Maria Felicia
    Publication type:
    Article
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    A restricted spectrum of NRAS mutations causes Noonan syndrome.

    Published in:
    Nature Genetics, 2010, v. 42, n. 1, p. 27, doi. 10.1038/ng.497
    By:
    • Cirstea, Ion C.;
    • Kutsche, Kerstin;
    • Dvorsky, Radovan;
    • Gremer, Lothar;
    • Carta, Claudio;
    • Horn, Denise;
    • Roberts, Amy E.;
    • Lepri, Francesca;
    • Merbitz-Zahradnik, Torsten;
    • König, Rainer;
    • Kratz, Christian P.;
    • Pantaleoni, Francesca;
    • Dentici, Maria L.;
    • Joshi, Victoria A.;
    • Kucherlapati, Raju S.;
    • Mazzanti, Laura;
    • Mundlos, Stefan;
    • Patton, Michael A.;
    • Silengo, Margherita Cirillo;
    • Rossi, Cesare
    Publication type:
    Article
    8

    Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

    Published in:
    Nature Genetics, 2009, v. 41, n. 9, p. 1022, doi. 10.1038/ng.425
    By:
    • Cordeddu, Viviana;
    • Di Schiavi, Elia;
    • Pennacchio, Len A.;
    • Ma'ayan, Avi;
    • Sarkozy, Anna;
    • Fodale, Valentina;
    • Cecchetti, Serena;
    • Cardinale, Alessio;
    • Martin, Joel;
    • Schackwitz, Wendy;
    • Lipzen, Anna;
    • Zampino, Giuseppe;
    • Mazzanti, Laura;
    • Digilio, Maria C.;
    • Martinelli, Simone;
    • Flex, Elisabetta;
    • Lepri, Francesca;
    • Bartholdi, Deborah;
    • Kutsche, Kerstin;
    • Ferrero, Giovanni B
    Publication type:
    Article
    9

    Prevalence and Clinical Picture of Celiac Disease in Turner Syndrome.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 12, p. 5495, doi. 10.1210/jc.2002-020855
    By:
    • BONAMICO, MARGHERITA;
    • PASQUINO, ANNA M.;
    • MARIANI, PAOLO;
    • DANESI, HELENE M.;
    • CULASSO, FRANCO;
    • MAZZANTI, LAURA;
    • PETRI, ANTONELLA;
    • BONA, GIOVANNI
    Publication type:
    Article
    10
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    Reactive oxygen species plasmatic levels in ischemic stroke.

    Published in:
    Molecular & Cellular Biochemistry, 2007, v. 303, n. 1/2, p. 19, doi. 10.1007/s11010-007-9451-4
    By:
    • Laura Nanetti;
    • Ruja Taffi;
    • Arianna Vignini;
    • Cinzia Moroni;
    • Francesca Raffaelli;
    • Tiziana Bacchetti;
    • Mauro Silvestrini;
    • Leandro Provinciali;
    • Laura Mazzanti
    Publication type:
    Article
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    Altered platelet membrane dynamic properties in type 1 diabetes.

    Published in:
    1997
    By:
    • Mazzanti, Laura;
    • Rabini, Rosa A.;
    • Fumelli, Paolo;
    • Martarelli, Daniela;
    • Staffolani, Roberto;
    • Salvolini, Eleonora;
    • Curatola, Giovanna;
    • Mazzanti, L;
    • Rabini, R A;
    • Fumelli, P;
    • Martarelli, D;
    • Staffolani, R;
    • Salvolini, E;
    • Curatola, G
    Publication type:
    journal article
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    A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 13, p. 3607, doi. 10.1093/hmg/ddu070
    By:
    • Magini, Pamela;
    • Pippucci, Tommaso;
    • Tsai, I-Chun;
    • Coppola, Simona;
    • Stellacci, Emilia;
    • Bartoletti-Stella, Anna;
    • Turchetti, Daniela;
    • Graziano, Claudio;
    • Cenacchi, Giovanna;
    • Neri, Iria;
    • Cordelli, Duccio Maria;
    • Marchiani, Valentina;
    • Bergamaschi, Rosalba;
    • Gasparre, Giuseppe;
    • Neri, Giovanni;
    • Mazzanti, Laura;
    • Patrizi, Annalisa;
    • Franzoni, Emilio;
    • Romeo, Giovanni;
    • Bordo, Domenico
    Publication type:
    Article
    24

    Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 517, doi. 10.1002/ajmg.a.62021
    By:
    • Botto, Lorenzo D.;
    • Meeths, Marie;
    • Campos‐Xavier, Belinda;
    • Bergamaschi, Rosalba;
    • Mazzanti, Laura;
    • Scarano, Emanuela;
    • Finocchi, Andrea;
    • Cancrini, Caterina;
    • Zirn, Birgit;
    • Kühnle, Ingrid;
    • Kramm, Christof Maria;
    • Alanay, Yasemin;
    • Jones, Wendy D.;
    • Irving, Melita;
    • Sabir, Ataf;
    • Henter, Jan‐Inge;
    • Borgström, Birgit;
    • Nordgren, Ann;
    • Hammarsjö, Anna;
    • Putti, Caterina
    Publication type:
    Article
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    Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).

    Published in:
    European Journal of Endocrinology, 2018, v. 178, n. 1, p. 23, doi. 10.1530/EJE-17-0065
    By:
    • Bonomi, Marco;
    • Vezzoli, Valeria;
    • Krausz, Csilla;
    • Guizzardi, Fabiana;
    • Vezzani, Silvia;
    • Simoni, Manuela;
    • Bassi, Ivan;
    • Duminuco, Paolo;
    • Di Iorgi, Natascia;
    • Giavoli, Claudia;
    • Pizzocaro, Alessandro;
    • Russo, Gianni;
    • Moro, Mirella;
    • Fatti, Letizia;
    • Ferlin, Alberto;
    • Mazzanti, Laura;
    • Zatelli, Maria Chiara;
    • Cannavò, Salvo;
    • Isidori, Andrea M.;
    • Pincelli, Angela Ida
    Publication type:
    Article
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    Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.

    Published in:
    2008
    By:
    • Zollino, Marcella;
    • Lecce, Rosetta;
    • Murdolo, Marina;
    • Orteschi, Daniela;
    • Marangi, Giuseppe;
    • Selicorni, Angelo;
    • Midro, Alina;
    • Sorge, Giovanni;
    • Zampino, Giuseppe;
    • Memo, Luigi;
    • Battaglia, Domenica;
    • Petersen, Michael;
    • Pandelia, Effie;
    • Gyftodimou, Yolanda;
    • Faravelli, Francesca;
    • Tenconi, Romano;
    • Garavelli, Livia;
    • Mazzanti, Laura;
    • Fischetto, Rita;
    • Cavalli, Pietro
    Publication type:
    Correction Notice
    37

    Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.

    Published in:
    Human Genetics, 2007, v. 122, n. 5, p. 423, doi. 10.1007/s00439-007-0412-5
    By:
    • Zollino, Marcella;
    • Lecce, Rosetta;
    • Murdolo, Marina;
    • Orteschi, Daniela;
    • Marangi, Giuseppe;
    • Selicorni, Angelo;
    • Midro, Alina;
    • Sorge, Giovanni;
    • Zampino, Giuseppe;
    • Memo, Luigi;
    • Battaglia, Domenica;
    • Petersen, Michael;
    • Pandelia, Effie;
    • Gyftodimou, Yolanda;
    • Faravelli, Francesca;
    • Tenconi, Romano;
    • Garavelli, Livia;
    • Mazzanti, Laura;
    • Fischetto, Rita;
    • Cavalli, Pietro
    Publication type:
    Article
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    Endocrinological manifestations in RASopathies.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 471, doi. 10.1002/ajmg.c.32013
    By:
    • Tamburrino, Federica;
    • Scarano, Emanuela;
    • Schiavariello, Concetta;
    • Perri, Annamaria;
    • Pession, Andrea;
    • Mazzanti, Laura
    Publication type:
    Article
    42

    The empowerment of translational research: lessons from laminopathies.

    Published in:
    2012
    By:
    • Benedetti, Sara;
    • Bernasconi, Pia;
    • Bertini, Enrico;
    • Biagini, Elena;
    • Boriani, Giuseppe;
    • Capanni, Cristina;
    • Carboni, Nicola;
    • Cenacchi, Giovanna;
    • Columbaro, Marta;
    • D'Adamo, Monica;
    • D'Amico, Adele;
    • D'Apice, Maria Rosaria;
    • Fontana, Marianna;
    • Gambineri, Alessandra;
    • Lattanzi, Giovanna;
    • Liguori, Rocco;
    • Maraldi, Nadir M;
    • Mazzanti, Laura;
    • Mercuri, Eugenio;
    • Mongini, Tiziana
    Publication type:
    Letter
    43

    The empowerment of translational research: lessons from laminopathies.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 37, doi. 10.1186/1750-1172-7-37
    By:
    • Benedetti, Sara;
    • Bernasconi, Pia;
    • Bertini, Enrico;
    • Biagini, Elena;
    • Boriani, Giuseppe;
    • Capanni, Cristina;
    • Carboni, Nicola;
    • Cenacchi, Giovanna;
    • Columbaro, Marta;
    • D'Adamo, Monica;
    • D'Amico, Adele;
    • D'Apice, Maria Rosaria;
    • Fontana, Marianna;
    • Gambineri, Alessandra;
    • Lattanzi, Giovanna;
    • Liguori, Rocco;
    • Maraldi, Nadir M.;
    • Mazzanti, Laura;
    • Mercuri, Eugenio;
    • Mongini, Tiziana
    Publication type:
    Article
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    Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 6, p. 753, doi. 10.1038/ejhg.2014.165
    By:
    • 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
    Publication type:
    Article
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    Oxidative stress in ischaemic stroke.

    Published in:
    European Journal of Clinical Investigation, 2011, v. 41, n. 12, p. 1318, doi. 10.1111/j.1365-2362.2011.02546.x
    By:
    • Nanetti, Laura;
    • Raffaelli, Francesca;
    • Vignini, Arianna;
    • Perozzi, Cecilia;
    • Silvestrini, Mauro;
    • Bartolini, Marco;
    • Provinciali, Leandro;
    • Mazzanti, Laura
    Publication type:
    Article
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