Works matching DE "NOONAN syndrome"

Results: 539
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    From Stem to Sternum: The Role of Shp2 in the Skeleton.

    Published in:
    Calcified Tissue International, 2023, v. 112, n. 4, p. 403, doi. 10.1007/s00223-022-01042-3
    By:
    • Jensen, Nathaniel R.;
    • Kelly, Ryan R.;
    • Kelly, Kirsten D.;
    • Khoo, Stephanie K.;
    • Sidles, Sara J.;
    • LaRue, Amanda C.
    Publication type:
    Article
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    Neurosurgical aspects of Noonan syndrome.

    Published in:
    Child's Nervous System, 2023, v. 39, n. 4, p. 849, doi. 10.1007/s00381-023-05888-2
    By:
    • Saragosti, Eldad;
    • Fattal-Valevski, Aviva;
    • Levin, Dror;
    • Hausman-Kedem, Moran;
    • Constantini, Shlomi;
    • Mecica, Noa;
    • Zarour, Shiri;
    • Roth, Jonathan
    Publication type:
    Article
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    Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.

    Published in:
    Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 233, doi. 10.3390/brainsci11020233
    By:
    • Alfieri, Paolo;
    • Cumbo, Francesca;
    • Serra, Giulia;
    • Trasolini, Monia;
    • Frattini, Camilla;
    • Scibelli, Francesco;
    • Licchelli, Serena;
    • Cirillo, Flavia;
    • Caciolo, Cristina;
    • Casini, Maria Pia;
    • D'Amico, Adele;
    • Tartaglia, Marco;
    • Digilio, Maria Cristina;
    • Capolino, Rossella;
    • Vicari, Stefano;
    • Nitta, Atsumi
    Publication type:
    Article
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    Recognition Memory in Noonan Syndrome.

    Published in:
    Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 169, doi. 10.3390/brainsci11020169
    By:
    • Costanzo, Floriana;
    • Alfieri, Paolo;
    • Caciolo, Cristina;
    • Bergonzini, Paola;
    • Perrino, Francesca;
    • Zampino, Giuseppe;
    • Leoni, Chiara;
    • Menghini, Deny;
    • Digilio, Maria Cristina;
    • Tartaglia, Marco;
    • Vicari, Stefano;
    • Carlesimo, Giovanni Augusto;
    • Zoccolotti, Pierluigi
    Publication type:
    Article
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    Long-Term Effectiveness and Safety of Childhood Growth Hormone Treatment in Noonan Syndrome.

    Published in:
    Hormone Research in Paediatrics, 2020, v. 93, n. 6, p. 380, doi. 10.1159/000512429
    By:
    • Rohrer, Tilman R.;
    • Abuzzahab, Jennifer;
    • Backeljauw, Philippe;
    • Birkegård, Anna Camilla;
    • Blair, Joanne;
    • Dahlgren, Jovanna;
    • Júlíusson, Pétur Benedikt;
    • Ostrow, Vlady;
    • Pietropoli, Alberto;
    • Polak, Michel;
    • Romano, Alicia;
    • Ross, Judith;
    • Sävendahl, Lars;
    • Miller, Bradley S.
    Publication type:
    Article
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    LZTR1: Genotype Expansion in Noonan Syndrome.

    Published in:
    Hormone Research in Paediatrics, 2019, v. 92, n. 4, p. 269, doi. 10.1159/000502741
    By:
    • Güemes, María;
    • Martín-Rivada, Álvaro;
    • Ortiz-Cabrera, Neimar Valentina;
    • Martos-Moreno, Gabriel Ángel;
    • Pozo-Román, Jesús;
    • Argente, Jesús
    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
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    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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    Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.

    Published in:
    Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00865-x
    By:
    • Inoue, Takanobu;
    • Nakamura, Akie;
    • Iwahashi-Odano, Megumi;
    • Tanase-Nakao, Kanako;
    • Matsubara, Keiko;
    • Nishioka, Junko;
    • Maruo, Yoshihiro;
    • Hasegawa, Yukihiro;
    • Suzumura, Hiroshi;
    • Sato, Seiji;
    • Kobayashi, Yoshiyuki;
    • Murakami, Nobuyuki;
    • Nakabayashi, Kazuhiko;
    • Yamazawa, Kazuki;
    • Fuke, Tomoko;
    • Narumi, Satoshi;
    • Oka, Akira;
    • Ogata, Tsutomu;
    • Fukami, Maki;
    • Kagami, Masayo
    Publication type:
    Article
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