Works matching DE "NOONAN syndrome"

Results: 569
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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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    Etiologies of Early-Onset Hearing Impairment in Rwanda.

    Published in:
    Genes, 2025, v. 16, n. 3, p. 257, doi. 10.3390/genes16030257
    By:
    • Uwibambe, Esther;
    • Mutesa, Leon;
    • Muhizi, Charles;
    • Ncogoza, Isaie;
    • Twumasi Aboagye, Elvis;
    • Dukuze, Norbert;
    • Adadey, Samuel M.;
    • DeKock, Carmen;
    • Wonkam, Ambroise
    Publication type:
    Article
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    Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.

    Published in:
    Genes, 2024, v. 15, n. 11, p. 1379, doi. 10.3390/genes15111379
    By:
    • Zepeda-Olmos, Paola Montserrat;
    • Esparza-García, Eduardo;
    • Robles-Espinoza, Kiabeth;
    • González-García, Juan Ramón;
    • Rodríguez Gutiérrez, Perla Graciela;
    • Magaña-Torres, María Teresa
    Publication type:
    Article
    39

    Cardiac Phenotype and Gene Mutations in RASopathies.

    Published in:
    Genes, 2024, v. 15, n. 8, p. 1015, doi. 10.3390/genes15081015
    By:
    • Faienza, Maria Felicia;
    • Meliota, Giovanni;
    • Mentino, Donatella;
    • Ficarella, Romina;
    • Gentile, Mattia;
    • Vairo, Ugo;
    • D'amato, Gabriele
    Publication type:
    Article
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    Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation.

    Published in:
    Genes, 2022, v. 13, n. 9, p. 1503, doi. 10.3390/genes13091503
    By:
    • Lioncino, Michele;
    • Fusco, Adelaide;
    • Monda, Emanuele;
    • Colonna, Diego;
    • Sibilio, Michelina;
    • Caiazza, Martina;
    • Magri, Daniela;
    • Borrelli, Angela Carla;
    • D'Onofrio, Barbara;
    • Mazzella, Maria Luisa;
    • Colantuono, Rossella;
    • Arienzo, Maria Rosaria;
    • Sarubbi, Berardo;
    • Russo, Maria Giovanna;
    • Chello, Giovanni;
    • Limongelli, Giuseppe
    Publication type:
    Article
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    MEK Inhibition in a Newborn with RAF1 -Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 6, doi. 10.3390/genes13010006
    By:
    • Mussa, Alessandro;
    • Carli, Diana;
    • Giorgio, Elisa;
    • Villar, Anna Maria;
    • Cardaropoli, Simona;
    • Carbonara, Caterina;
    • Campagnoli, Maria Francesca;
    • Galletto, Paolo;
    • Palumbo, Martina;
    • Olivieri, Simone;
    • Isella, Claudio;
    • Andelfinger, Gregor;
    • Tartaglia, Marco;
    • Botta, Giovanni;
    • Brusco, Alfredo;
    • Medico, Enzo;
    • Ferrero, Giovanni Battista
    Publication type:
    Article
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    Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

    Published in:
    Genes, 2019, v. 10, n. 9, p. 675, doi. 10.3390/genes10090675
    By:
    • Pinna, Valentina;
    • Daniele, Paola;
    • Calcagni, Giulio;
    • Mariniello, Lucio;
    • Criscione, Roberta;
    • Giardina, Chiara;
    • Lepri, Francesca Romana;
    • Hozhabri, Hossein;
    • Alberico, Angela;
    • Cavone, Stefania;
    • Morella, Annunziata Tina;
    • Mandile, Roberta;
    • Annunziata, Francesca;
    • Di Giosaffatte, Niccolò;
    • D'Asdia, Maria Cecilia;
    • Versacci, Paolo;
    • Capolino, Rossella;
    • Strisciuglio, Pietro;
    • Giustini, Sandra;
    • Melis, Daniela
    Publication type:
    Article
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