Works matching DE "GENETIC mutation"


Results: 5000
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    DR SPUR'S MYSTERY CASE.

    Published in:
    Current Allergy & Clinical Immunology, 2025, v. 38, n. 2, p. 118
    By:
    • van den Berg, Sylvia;
    • Brauer, Marieke;
    • van Niekerk, André
    Publication type:
    Article
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    Analytical and Clinical Validation of the Oncomine Dx Target Test to Assess HER2 Mutation Status in Tumor Tissue Samples From Patients With Non-Small Cell Lung Cancer Treated With Trastuzumab Deruxtecan in the DESTINY-Lung01 and DESTINY-Lung02 Studies.

    Published in:
    Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 6, p. 542, doi. 10.5858/arpa.2024-0014-OA
    By:
    • Zhenhao Qi;
    • Ha, Thomas;
    • Wenqin Feng;
    • Karnoub, Maha;
    • Pereira, Kaline;
    • Ryota Shiga;
    • Smit, Egbert F.;
    • Yasushi Goto;
    • De Langen, Adrianus Johannes;
    • Koichi Goto;
    • Velasco Roth, Anne Marie;
    • Khambata-Ford, Shirin
    Publication type:
    Article
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    VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

    Published in:
    Rheumatology, 2025, v. 64, n. 6, p. 3747, doi. 10.1093/rheumatology/keaf094
    By:
    • García-Escudero, Paula;
    • López-Gómez, Marta;
    • López, Berta Magallares;
    • Dorta, Alicia García;
    • Frade-Sosa, Beatriz;
    • Lizarzaburu, Meritxell Sallés;
    • Rúa-Figueroa, Íñigo;
    • Fiallo, Dolly Viviana;
    • Miera, Francisco Javier Toyos Sáenz de;
    • Melero-Gonzalez, Rafael Benito;
    • Santos, Diego Dios;
    • Miranda, José Alberto;
    • Belando, Clara García;
    • Boselli, Giuliano;
    • Boteanu, Alina Lucica;
    • Villalobos, Lourdes;
    • Selaya, Cristina Corrales;
    • Santos, Cristiana Sieiro;
    • Álvarez, Elvira Díez;
    • Font, Judit
    Publication type:
    Article
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    Vasculitis associated with VEXAS syndrome Open Access.

    Published in:
    Rheumatology, 2025, v. 64, n. 6, p. 3889, doi. 10.1093/rheumatology/keae550
    By:
    • Sullivan, Megan M;
    • Mead-Harvey, Carolyn;
    • Sartori-Valinotti, Julio C;
    • Kalantari, Kambiz;
    • Kusne, Yael N;
    • Patnaik, Mrinal M;
    • Mangaonkar, Abhishek A;
    • Go, Ronald S;
    • Montes, Daniel;
    • Reichard, Kaaren K;
    • Olteanu, Horatiu;
    • Bois, Melanie C;
    • Hines, Alexander S;
    • Warrington, Kenneth J;
    • Koster, Matthew J
    Publication type:
    Article
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    Clinical Characterization and Outcomes of Human Clade IIb Mpox Virus Disease: A European Multicenter Mpox Observational Cohort Study (MOSAIC) Open Access.

    Published in:
    Clinical Infectious Diseases, 2025, v. 80, n. 5, p. 1060, doi. 10.1093/cid/ciae657
    By:
    • Pesonel, Elise;
    • Laouénan, Cédric;
    • Guiraud, Laetitia;
    • Bourner, Josephine;
    • Hoffmann, Isabelle;
    • Molino, Diana;
    • Tardivon, Coralie;
    • Bachelet, Delphine;
    • Mentré, France;
    • Amstutz, Alain;
    • Merson, Laura;
    • Rojek, Amanda;
    • Gonzalez, Minerva Cervantes;
    • Antinori, Andrea;
    • Castagna, Antonella;
    • Nozza, Silvia;
    • Pourcher, Valérie;
    • Libois, Agnès;
    • Dunning, Jake;
    • Tacconelli, Evelina
    Publication type:
    Article
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    Primary adrenal insufficiency in patients with CPOX gene mutations.

    Published in:
    European Journal of Endocrinology, 2025, v. 192, n. 5, p. K31, doi. 10.1093/ejendo/lvaf089
    By:
    • Kelestemur, Elif;
    • Yarar, Murat Hakki;
    • Tosun, Busra Gurpinar;
    • Karaca, Meryem;
    • Goler, Ayse Mine Yilmaz;
    • Yilmaz, Betul Karademir;
    • Yapici, Ozge;
    • Gokcay, Gulden;
    • Guran, Tulay
    Publication type:
    Article
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    RNA‐sequencing: A reliable tool to unveil transcriptional landscape of paediatric B‐other acute lymphoblastic leukaemia.

    Published in:
    British Journal of Haematology, 2025, v. 206, n. 5, p. 1355, doi. 10.1111/bjh.20056
    By:
    • Vicente‐Garcés, Clara;
    • Fernández, Guerau;
    • Esperanza‐Cebollada, Elena;
    • Richarte‐Franqués, Mercè;
    • Crespo‐Carrasco, Alba;
    • Montesdeoca, Sara;
    • Isola, Ignacio;
    • Sarrate, Edurne;
    • Cuatrecasas, Esther;
    • Rives, Susana;
    • Dapena, José Luis;
    • Camós, Mireia;
    • Vega‐García, Nerea
    Publication type:
    Article
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    Evaluation of the effectiveness and safety of avapritinib in real-world Spanish cases with gastrointestinal stromal tumor and D842V-PDGFRA mutation.

    Published in:
    Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf062
    By:
    • Hernández, Isaac Nuñez;
    • Palmero, Cristina Gómez;
    • Delgado, Juan Ramón;
    • Nuño, Ana;
    • González, Maria Ángeles Sala;
    • Ageitos, Ana González;
    • Aguilar, Héctor;
    • Miguel, Pablo Ayala de;
    • Condori, Elizabeth;
    • Beveridge, Roberto Díaz;
    • García, Jerónimo Martínez;
    • Marquina, Gloria;
    • Varela-Pose, Vanesa;
    • Rodríguez, Joel Veas;
    • Serrano, César
    Publication type:
    Article
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    Exploring the promoter regions of cancer predisposition genes in patients with triple-negative breast cancer reveals the presence of rare germline variants.

    Published in:
    Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf052
    By:
    • Palleschi, Michela;
    • Virga, Alessandra;
    • Scarpi, Emanuela;
    • Fonzi, Eugenio;
    • Musolino, Antonino;
    • Merloni, Filippo;
    • Sarti, Samanta;
    • Danesi, Rita;
    • Ravegnani, Mila;
    • Casadei, Chiara;
    • Sirico, Marianna;
    • Gianni, Caterina;
    • Maltoni, Roberta;
    • Bravaccini, Sara;
    • Calistri, Daniele;
    • Arcangeli, Valentina;
    • Zampiga, Valentina;
    • Cangini, Ilaria;
    • Bandini, Erika;
    • Mannozzi, Francesca
    Publication type:
    Article
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    Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.

    Published in:
    Respirology, 2025, v. 30, n. 6, p. 523, doi. 10.1111/resp.70039
    By:
    • Franco, Giovanni;
    • Ba, Ibrahima;
    • Nathan, Nadia;
    • Guerin, Cécile;
    • Lassus, Albane;
    • Kannengiesser, Caroline;
    • Froidure, Antoine;
    • Manali, Effrosyni;
    • Bunel, Vincent;
    • Bonniaud, Philippe;
    • Bouvry, Diane;
    • Debray, Marie Pierre;
    • Juge, Pierre Antoine;
    • Epaud, Ralph;
    • Louvrier, Camille;
    • Plessier, Aurélie;
    • de Fontbrune, Flore Sicre;
    • Wémeau‐Stervinou, Lidwine;
    • Adam, Sylvain Marchand;
    • Chabrol, Alexandre
    Publication type:
    Article
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    Rapid diagnosis of adult-type diffuse glioma using a layered scheme.

    Published in:
    BMC Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12916-025-04124-9
    By:
    • Wu, Jinsong;
    • Wu, Shuai;
    • Cao, Dandan;
    • Xiong, Zhang;
    • Zhang, Jianhua;
    • Zou, Yourui;
    • Wu, Zanyi;
    • Nie, Yanli;
    • Luo, Chen;
    • Yao, Ye;
    • Song, Yanyan;
    • Jiao, Yuchen;
    • Chen, Hong;
    • Ma, Hui;
    • Kang, Dezhi;
    • Mao, Ying;
    • Yan, Hai
    Publication type:
    Article
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