Works by Maghnie, Mohamad

Results: 144
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    Neuromuscular and Neuroendocrinological Features Associated With ZC4H2 -Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.704747
    By:
    • Piccolo, Gianluca;
    • d'Annunzio, Giuseppe;
    • Amadori, Elisabetta;
    • Riva, Antonella;
    • Borgia, Paola;
    • Tortora, Domenico;
    • Maghnie, Mohamad;
    • Minetti, Carlo;
    • Gitto, Eloisa;
    • Iacomino, Michele;
    • Baldassari, Simona;
    • Fiorillo, Chiara;
    • Zara, Federico;
    • Striano, Pasquale;
    • Salpietro, Vincenzo
    Publication type:
    Article
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    European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.

    Published in:
    Advances in Therapy, 2024, v. 41, n. 7, p. 2545, doi. 10.1007/s12325-024-02880-3
    By:
    • Fredwall, Svein;
    • AlSayed, Moeenaldeen;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fauroux, Brigitte;
    • Guillén-Navarro, Encarna;
    • Innig, Florian;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.;
    • Irving, Melita
    Publication type:
    Article
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    An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus.

    Published in:
    International Journal of Environmental Research & Public Health, 2022, v. 19, n. 4, p. 2473, doi. 10.3390/ijerph19042473
    By:
    • Rigoli, Luciana;
    • Caruso, Valerio;
    • Aloi, Concetta;
    • Salina, Alessandro;
    • Maghnie, Mohamad;
    • d'Annunzio, Giuseppe;
    • Lamacchia, Olga;
    • Salzano, Giuseppina;
    • Lombardo, Fortunato;
    • Picca, Giuseppe
    Publication type:
    Article
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    Adenosine Blood Level: A Biomarker of White Matter Damage in Very Low Birth Weight Infants.

    Published in:
    Current Pediatric Reviews, 2022, v. 18, n. 2, p. 153
    By:
    • Colella, Marina;
    • Panfoli, Isabella;
    • Doglio, Matteo;
    • Cassanello, Michela;
    • Bruschi, Maurizio;
    • De Angelis, Laura C.;
    • Candiano, Giovanni;
    • Parodi, Alessandro;
    • Malova, Mariya;
    • Petretto, Andrea;
    • Morana, Giovanni;
    • Tortora, Domenico;
    • Severino, Mariasavina;
    • Maghnie, Mohamad;
    • Buonocore, Giuseppe;
    • Rossi, Andrea;
    • Baud, Oliver;
    • Ramenghi, Luca A.
    Publication type:
    Article
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    Abnormalities of pubertal development and gonadal function in Noonan syndrome.

    Published in:
    Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1213098
    By:
    • Patti, Giuseppa;
    • Scaglione, Marco;
    • Maiorano, Nadia Gabriella;
    • Rosti, Giulia;
    • Divizia, Maria Teresa;
    • Camia, Tiziana;
    • De Rose, Elena Lucia;
    • Zucconi, Alice;
    • Casalini, Emilio;
    • Napoli, Flavia;
    • Di Iorgi, Natascia;
    • Maghnie, Mohamad
    Publication type:
    Article
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    Abnormalities of pubertal development and gonadal function in Noonan syndrome.

    Published in:
    Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1213098
    By:
    • Patti, Giuseppa;
    • Scaglione, Marco;
    • Maiorano, Nadia Gabriella;
    • Rosti, Giulia;
    • Divizia, Maria Teresa;
    • Camia, Tiziana;
    • Lucia De Rose, Elena;
    • Zucconi, Alice;
    • Casalini, Emilio;
    • Napoli, Flavia;
    • Di Iorgi, Natascia;
    • Maghnie, Mohamad
    Publication type:
    Article
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    To sleep or not to sleep: An Italian Control-IQ-uestion.

    Published in:
    Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.996453
    By:
    • Bassi, Marta;
    • Strati, Marina Francesca;
    • Andreottola, Valentina;
    • Calevo, Maria Grazia;
    • d'Annunzio, Giuseppe;
    • Maghnie, Mohamad;
    • Minuto, Nicola
    Publication type:
    Article
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    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
    By:
    • Irving, Melita;
    • AlSayed, Moeenaldeen;
    • Arundel, Paul;
    • Baujat, Geneviève;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Hoyer-Kuhn, Heike;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Sousa, Sérgio B.
    Publication type:
    Article
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    Real-world evidence in achondroplasia: considerations for a standardized data set.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w
    By:
    • Alanay, Yasemin;
    • Mohnike, Klaus;
    • Nilsson, Ola;
    • Alves, Inês;
    • AlSayed, Moeenaldeen;
    • Appelman-Dijkstra, Natasha M.;
    • Baujat, Genevieve;
    • Ben-Omran, Tawfeg;
    • Breyer, Sandra;
    • Cormier-Daire, Valerie;
    • Gregersen, Pernille Axél;
    • Guillén-Navarro, Encarna;
    • Högler, Wolfgang;
    • Maghnie, Mohamad;
    • Mukherjee, Swati;
    • Cohen, Shelda;
    • Pimenta, Jeanne;
    • Selicorni, Angelo;
    • Semler, J. Oliver;
    • Sigaudy, Sabine
    Publication type:
    Article
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    Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02652-2
    By:
    • Maghnie, Mohamad;
    • Semler, Oliver;
    • Guillen-Navarro, Encarna;
    • Selicorni, Angelo;
    • Heath, Karen E.;
    • Haeusler, Gabriele;
    • Hagenäs, Lars;
    • Merker, Andrea;
    • Leiva-Gea, Antonio;
    • González, Vanesa López;
    • Raimann, Adalbert;
    • Rehberg, Mirko;
    • Santos-Simarro, Fernando;
    • Ertl, Diana-Alexandra;
    • Gregersen, Pernille Axél;
    • Onesimo, Roberta;
    • Landfeldt, Erik;
    • Jarrett, James;
    • Quinn, Jennifer;
    • Rowell, Richard
    Publication type:
    Article
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    The Italian registry for patients with Prader–Willi syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02633-5
    By:
    • Salvatore, Marco;
    • Torreri, Paola;
    • Grugni, Graziano;
    • Rocchetti, Adele;
    • Maghnie, Mohamad;
    • Patti, Giuseppa;
    • Crinò, Antonino;
    • Elia, Maurizio;
    • Greco, Donatella;
    • Romano, Corrado;
    • Franzese, Adriana;
    • Mozzillo, Enza;
    • Colao, Annamaria;
    • Pugliese, Gabriella;
    • Pagotto, Uberto;
    • Lo Preiato, Valentina;
    • Scarano, Emanuela;
    • Schiavariello, Concetta;
    • Tornese, Gianluca;
    • Fintini, Danilo
    Publication type:
    Article
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    Precocious Puberty Diagnoses Spike, COVID-19 Pandemic, and Body Mass Index: Findings From a 4-year Study.

    Published in:
    Journal of the Endocrine Society, 2023, v. 7, n. 9, p. 1, doi. 10.1210/jendso/bvad094
    By:
    • Fava, Daniela;
    • Pepino, Carlotta;
    • Tosto, Valentina;
    • Gastaldi, Roberto;
    • Pepe, Alessia;
    • Paoloni, Dalila;
    • Strati, Marina Francesca;
    • Angelelli, Alessia;
    • Calandrino, Andrea;
    • Tedesco, Caterina;
    • Camia, Tiziana;
    • Allegri, Anna Elsa Maria;
    • Patti, Giuseppa;
    • Casalini, Emilio;
    • Bassi, Marta;
    • Calevo, Maria Grazia;
    • Napoli, Flavia;
    • Maghnie, Mohamad
    Publication type:
    Article
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    One-Year Effect of Elexacaftor/Tezacaftor/Ivacaftor Therapy on HbA1c Levels and Insulin Requirement in Patients with Insulin-Dependent Cystic Fibrosis-Related Diabetes: A Retrospective Observational Study.

    Published in:
    Life (2075-1729), 2024, v. 14, n. 10, p. 1309, doi. 10.3390/life14101309
    By:
    • Bassi, Marta;
    • Strati, Marina Francesca;
    • Spiandorello, Gaia;
    • Scalas, Marta;
    • Cresta, Federico;
    • Calevo, Maria Grazia;
    • d'Annunzio, Giuseppe;
    • Castellani, Carlo;
    • Minuto, Nicola;
    • Maghnie, Mohamad;
    • Casciaro, Rosaria
    Publication type:
    Article
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    Endothelial Dysfunction in Childhood Cancer Survivors: A Narrative Review.

    Published in:
    Life (2075-1729), 2022, v. 12, n. 1, p. 45, doi. 10.3390/life12010045
    By:
    • Crocco, Marco;
    • d'Annunzio, Giuseppe;
    • La Valle, Alberto;
    • Piccolo, Gianluca;
    • Chiarenza, Decimo Silvio;
    • Bigatti, Carolina;
    • Molteni, Marta;
    • Milanaccio, Claudia;
    • Garrè, Maria Luisa;
    • Di Iorgi, Natascia;
    • Maghnie, Mohamad
    Publication type:
    Article
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    Combined Therapy with Insulin and Growth Hormone in 17 Patients with Type-1 Diabetes and Growth Disorders.

    Published in:
    Hormone Research in Paediatrics, 2014, v. 82, n. 1, p. 53, doi. 10.1159/000360856
    By:
    • Zucchini, Stefano;
    • Iafusco, Dario;
    • Vannelli, Silvia;
    • Rabbone, Ivana;
    • Salzano, Giuseppina;
    • Pozzobon, Gabriella;
    • Maghnie, Mohamad;
    • Cherubini, Valentino;
    • Bizzarri, Carla;
    • Bonfanti, Riccardo;
    • D'annunzio, Giuseppe;
    • Lenzi, Lorenzo;
    • Maggio, Maria Cristina;
    • Marigliano, Marco;
    • Scaramuzza, andrea;
    • Tumini, Stefano;
    • Iughetti, Lorenzo
    Publication type:
    Article
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    Diabetes Insipidus - Diagnosis and Management.

    Published in:
    Hormone Research in Paediatrics, 2012, v. 77, n. 2, p. 69, doi. 10.1159/000336333
    By:
    • Di Iorgi, Natascia;
    • Napoli, Flavia;
    • Allegri, Anna Elsa Maria;
    • Olivieri, Irene;
    • Bertelli, Enrica;
    • Gallizia, Annalisa;
    • Rossi, Andrea;
    • Maghnie, Mohamad
    Publication type:
    Article
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    Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.

    Published in:
    Genes, 2021, v. 12, n. 4, p. 588, doi. 10.3390/genes12040588
    By:
    • Tannorella, Pierpaola;
    • Minervino, Daniele;
    • Guzzetti, Sara;
    • Vimercati, Alessandro;
    • Calzari, Luciano;
    • Patti, Giuseppa;
    • Maghnie, Mohamad;
    • Allegri, Anna Elsa Maria;
    • Milani, Donatella;
    • Scuvera, Giulietta;
    • Mariani, Milena;
    • Modena, Piergiorgio;
    • Selicorni, Angelo;
    • Larizza, Lidia;
    • Russo, Silvia
    Publication type:
    Article
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    Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6185, doi. 10.3390/ijms21176185
    By:
    • Katharopoulos, Efstathios;
    • Di Iorgi, Natascia;
    • Fernandez-Alvarez, Paula;
    • Pandey, Amit V.;
    • Groessl, Michael;
    • Dubey, Shraddha;
    • Camats, Núria;
    • Napoli, Flavia;
    • Patti, Giuseppa;
    • Lezzi, Marilea;
    • Maghnie, Mohamad;
    • Flück, Christa E.
    Publication type:
    Article
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    Sleep disturbances in craniopharyngioma: a challenging diagnosis.

    Published in:
    Journal of Neurology, 2021, v. 268, n. 11, p. 4362, doi. 10.1007/s00415-021-10794-1
    By:
    • Cordani, Ramona;
    • Veneruso, Marco;
    • Napoli, Flavia;
    • Milanaccio, Claudia;
    • Verrico, Antonio;
    • Consales, Alessandro;
    • Cataldi, Matteo;
    • Fava, Daniela;
    • Di Iorgi, Natascia;
    • Maghnie, Mohamad;
    • Mancardi, Maria Margherita;
    • Nobili, Lino
    Publication type:
    Article
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    Prognostic factors in children and adolescents with differentiated thyroid carcinoma treated with total thyroidectomy and RAI: a real-life multicentric study.

    Published in:
    European Journal of Nuclear Medicine & Molecular Imaging, 2022, v. 49, n. 4, p. 1374, doi. 10.1007/s00259-021-05586-8
    By:
    • Cistaro, Angelina;
    • Quartuccio, Natale;
    • Garganese, Maria Carmen;
    • Villani, Maria Felicia;
    • Altini, Claudio;
    • Pizzoferro, Milena;
    • Piccardo, Arnoldo;
    • Cabria, Manlio;
    • Massollo, Michela;
    • Maghnie, Mohamad;
    • Campennì, Alfredo;
    • Siracusa, Massimiliano;
    • Baldari, Sergio;
    • Panareo, Stefano;
    • Urso, Luca;
    • Bartolomei, Mirco;
    • De Palma, Diego;
    • Grossi, Armando;
    • Mazzoletti, Angelica;
    • Dondi, Francesco
    Publication type:
    Article
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    A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

    Published in:
    Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0183-8
    By:
    • Russo, Silvia;
    • Calzari, Luciano;
    • Mainini, Ester;
    • Guzzetti, Sara;
    • Finelli, Palma;
    • Larizza, Lidia;
    • Calcagno, Annalisa;
    • Maghnie, Mohamad;
    • Divizia, Maria Teresa;
    • Melis, Daniela;
    • Manfredini, Emanuela;
    • Pecile, Vanna;
    • Mussa, Alessandro;
    • Battista Ferrero, Giovanni;
    • Cassina, Matteo;
    • Clementi, Maurizio;
    • Di Candia, Stefania;
    • Tabano, Silvia;
    • Miozzo, Monica;
    • Sirchia, Silvia
    Publication type:
    Article
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    Deterioration of Growth Hormone (GH) Response and Anterior Pituitary Function in Young Adults with Childhood-Onset GH Deficiency and Ectopic Posterior Pituitary: A Two-Year Prospective Follow-Up Study.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 10, p. 3875, doi. 10.1210/jc.2007-1081
    By:
    • di Iorgi, Natascia;
    • Secco, Andrea;
    • Napoli, Flavia;
    • Tinelli, Carmine;
    • Calcagno, Annalisa;
    • Fratangeli, Nadia;
    • Ambrosini, Linda;
    • Rossi, Andrea;
    • Lorini, Renata;
    • Maghnie, Mohamad
    Publication type:
    Article
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