Works by Cappa, Marco


Results: 143
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    A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1155, doi. 10.1002/humu.22860
    By:
    • Zanni, Ginevra;
    • Kalscheuer, Vera M.;
    • Friedrich, Andreas;
    • Barresi, Sabina;
    • Alfieri, Paolo;
    • Di Capua, Matteo;
    • Haas, Stefan A.;
    • Piccini, Giorgia;
    • Karl, Thomas;
    • Klauck, Sabine M.;
    • Bellacchio, Emanuele;
    • Emma, Francesco;
    • Cappa, Marco;
    • Bertini, Enrico;
    • Breitenbach‐Koller, Lore
    Publication type:
    Article
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    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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    New compositional data on ancient mortars from Hagia Sophia (Istanbul, Turkey).

    Published in:
    Archaeological & Anthropological Sciences, 2017, v. 9, n. 4, p. 499, doi. 10.1007/s12520-016-0375-3
    By:
    • Miriello, Domenico;
    • Barba, Luis;
    • Blancas, Jorge;
    • Bloise, Andrea;
    • Cappa, Marco;
    • Cura, Murat;
    • De Angelis, Daniela;
    • De Luca, Raffaella;
    • Pecci, Alessandra;
    • Taranto, Mirco;
    • Yavuz, Hasan;
    • Crisci, Gino
    Publication type:
    Article
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    Endocrine autoimmunity in Turner syndrome.

    Published in:
    Italian Journal of Pediatrics, 2013, v. 39, n. 1, p. 79, doi. 10.1186/1824-7288-39-79
    By:
    • Grossi, Armando;
    • Crino¿, Antonino;
    • Luciano, Rosa;
    • Lombardo, Antonietta;
    • Cappa, Marco;
    • Fierabracci, Alessandra
    Publication type:
    Article
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    Use of metformin in pediatric age.

    Published in:
    Pediatric Diabetes, 2011, v. 12, n. 6, p. 580, doi. 10.1111/j.1399-5448.2010.00741.x
    By:
    • Brufani, Claudia;
    • Fintini, Danilo;
    • Nobili, Valerio;
    • Patera, Patrizia Ippolita;
    • Cappa, Marco;
    • Brufani, Mario
    Publication type:
    Article
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    Central adrenal insufficiency in young adults with Prader-Willi Syndrome.

    Published in:
    Clinical Endocrinology, 2013, v. 79, n. 3, p. 371, doi. 10.1111/cen.12150
    By:
    • Grugni, Graziano;
    • Beccaria, Luciano;
    • Corrias, Andrea;
    • Crinò, Antonino;
    • Cappa, Marco;
    • Medici, Clotilde;
    • Di Candia, Stefania;
    • Gargantini, Luigi;
    • Ragusa, Letizia;
    • Salvatoni, Alessandro;
    • Sartorio, Alessandro;
    • Spera, Sabrina;
    • Andrulli, Simeone;
    • Chiumello, Giuseppe;
    • Mussa, Alessandro
    Publication type:
    Article
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    KBG syndrome: Common and uncommon clinical features based on 31 new patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
    By:
    • Gnazzo, Maria;
    • Lepri, Francesca R;
    • Dentici, Maria Lisa;
    • Capolino, Rossella;
    • Pisaneschi, Elisa;
    • Agolini, Emanuele;
    • Rinelli, Martina;
    • Alesi, Viola;
    • Versacci, Paolo;
    • Genovese, Silvia;
    • Cesario, Claudia;
    • Sinibaldi, Lorenzo;
    • Baban, Anwar;
    • Bartuli, Andrea;
    • Marino, Bruno;
    • Cappa, Marco;
    • Dallapiccola, Bruno;
    • Novelli, Antonio;
    • Digilio, Maria Cristina
    Publication type:
    Article
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    Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2353, doi. 10.1002/ajmg.a.38308
    By:
    • Cambiaso, Paola;
    • Galassi, Stefania;
    • Palmiero, Melania;
    • Mastronuzzi, Angela;
    • Del Bufalo, Francesca;
    • Capolino, Rossella;
    • Cacchione, Antonella;
    • Buonuomo, Paola S.;
    • Gonfiantini, Michaela V.;
    • Bartuli, Andrea;
    • Cappa, Marco;
    • Macchiaiolo, Marina
    Publication type:
    Article
    45

    Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.

    Published in:
    European Journal of Endocrinology, 2025, v. 192, n. 4, p. 364, doi. 10.1093/ejendo/lvaf006
    By:
    • Carcavilla, Atilano;
    • Pereda, Arrate;
    • Miyado, Mami;
    • Fukami, Maki;
    • Kato, Fumiko;
    • Sengoku, Toru;
    • Ogata, Kazuhiro;
    • Clemente, María;
    • Valenzuela, Irene;
    • Mantovani, Giovanna;
    • Cappa, Marco;
    • Cavarzere, Paolo;
    • Vado, Yerai;
    • González-Casado, Isabel;
    • Ogata, Tsutomu;
    • Nanclares, Guiomar Perez de
    Publication type:
    Article
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    Towards an individualized management of pubertal induction in girls with hypogonadism: insight into the best replacement outcomes from a large multicentre registry.

    Published in:
    European Journal of Endocrinology, 2023, v. 188, n. 6, p. 467, doi. 10.1093/ejendo/lvad056
    By:
    • Rodari, Giulia;
    • Federici, Silvia;
    • Todisco, Tommaso;
    • Ubertini, Graziamaria;
    • Cattoni, Alessandro;
    • Pagano, Marta;
    • Giacchetti, Federico;
    • Profka, Eriselda;
    • Citterio, Valeria;
    • Messetti, Dario;
    • Collini, Valentina;
    • Soranna, Davide;
    • Carbone, Erika;
    • Arosio, Maura;
    • Mantovani, Giovanna;
    • Persani, Luca;
    • Cappa, Marco;
    • Bonomi, Marco;
    • Giavoli, Claudia
    Publication type:
    Article
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    Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.

    Published in:
    European Journal of Endocrinology, 2019, v. 181, n. 3, p. 233, doi. 10.1530/EJE-19-0299
    By:
    • Patti, Giuseppa;
    • Scianguetta, Saverio;
    • Roberti, Domenico;
    • Di Mascio, Alberto;
    • Balsamo, Antonio;
    • Brugnara, Milena;
    • Cappa, Marco;
    • Casale, Maddalena;
    • Cavarzere, Paolo;
    • Cipriani, Sarah;
    • Corbetta, Sabrina;
    • Gaudino, Rossella;
    • Iughetti, Lorenzo;
    • Martini, Lucia;
    • Napoli, Flavia;
    • Peri, Alessandro;
    • Salerno, Maria Carolina;
    • Salerno, Roberto;
    • Passeri, Elena;
    • Maghnie, Mohamad
    Publication type:
    Article
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    Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.

    Published in:
    European Journal of Endocrinology, 2011, v. 165, n. 2, p. 307, doi. 10.1530/EJE-11-0119
    By:
    • Ghizzoni, Lucia;
    • Cappa, Marco;
    • Vottero, Alessandra;
    • Ubertini, Graziamaria;
    • Carta, Daniela;
    • Iorgi, Natascia Di;
    • Gasco, Valentina;
    • Marchesi, Maddalena;
    • Raggi, Vera;
    • Ibba, Anastasia;
    • Napoli, Flavia;
    • Massimi, Arianna;
    • Maghnie, Mohamad;
    • Loche, Sandro;
    • Porzio, Ottavia
    Publication type:
    Article