Works matching Li-Fraumeni syndrome and genetics

Results: 72
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    Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines.

    Published in:
    Hereditary Cancer in Clinical Practice, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s13053-025-00307-w
    By:
    • Danishevich, Anastasiia;
    • Fedorova, Daria;
    • Bodunova, Natalia;
    • Makarova, Maria;
    • Byakhova, Maria;
    • Semenova, Anna;
    • Galkin, Vsevolod;
    • Litvinova, Maria;
    • Nikolaev, Sergey;
    • Efimova, Irina;
    • Osinin, Pavel;
    • Lisitsa, Tatyana;
    • Khakhina, Anastasiya;
    • Shipulin, German;
    • Nasedkina, Tatiana;
    • Shumilova, Syuykum;
    • Gusev, Oleg;
    • Bilyalov, Airat;
    • Shagimardanova, Elena;
    • Shigapova, Leyla
    Publication type:
    Article
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    Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine.

    Published in:
    Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-020-00157-8
    By:
    • Sokolova, Tatiana N.;
    • Breder, Valeriy V.;
    • Shumskaya, Irina S.;
    • Suspitsin, Evgeny N.;
    • Aleksakhina, Svetlana N.;
    • Yanus, Grigoriy A.;
    • Tiurin, Vladislav I.;
    • Ivantsov, Alexandr O.;
    • Vona, Barbara;
    • Raskin, Grigoriy A.;
    • Gamajunov, Sergey V.;
    • Imyanitov, Evgeny N.
    Publication type:
    Article
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    Li–Fraumeni-szindróma.

    Published in:
    Hungarian Medical Journal / Orvosi Hetilap, 2019, v. 160, n. 6, p. 228, doi. 10.1556/650.2019.31290
    By:
    • Sejben, Anita;
    • Tiszlavicz, László;
    • Polyák, Kornélia;
    • Kovács, László;
    • Maráz, Anikó;
    • Török, Dóra;
    • Leprán, Ádám;
    • Ottlakán, Aurél;
    • Furák, József
    Publication type:
    Article
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    Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1369, doi. 10.1038/ejhg.2013.68
    By:
    • Aury-Landas, Juliette;
    • Bougeard, Gaëlle;
    • Castel, Hélène;
    • Hernandez-Vargas, Hector;
    • Drouet, Aurélie;
    • Latouche, Jean-Baptiste;
    • Schouft, Marie-Thérèse;
    • Férec, Claude;
    • Leroux, Dominique;
    • Lasset, Christine;
    • Coupier, Isabelle;
    • Caron, Olivier;
    • Herceg, Zdenko;
    • Frebourg, Thierry;
    • Flaman, Jean-Michel
    Publication type:
    Article
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    Clinical Course, Genetic, and Immunohistochemical Characterization of Solid Pseudopapillary Tumor of the Pancreas (Frantz Tumors) in a Brazilian Cohort.

    Published in:
    Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101809
    By:
    • Tostes, Francinne T.;
    • de Carvalho, Parisina Fraga Dutra Cabral;
    • Araújo, Raphael L. C.;
    • Ribeiro, Rodrigo Chaves;
    • Apodaca-Torrez, Franz Robert;
    • Lobo, Edson José;
    • Gomes, Diogo Bugano Diniz;
    • Callegaro-Filho, Donato;
    • Schvartsman, Gustavo;
    • Moura, Fernando;
    • Schraibman, Vladimir;
    • Goldenberg, Alberto;
    • de Lima, Fernanda Teresa;
    • Segatelli, Vanderlei;
    • Uson Junior, Pedro Luiz Serrano
    Publication type:
    Article
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    Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 1, p. 1, doi. 10.1101/mcs.a006245
    By:
    • de Oliveira Garcia, Felipe Antonio;
    • Feijó Evangelista, Adriane;
    • Minniti Mançano, Bruna;
    • Antunes Moreno, Daniel;
    • Noriz Berardinelli, Gustavo;
    • Escremim de Paula, Flávia;
    • Perazzolo Antoniazzi, Augusto;
    • Almeida Júnior, Carlos;
    • Lombardi, Ismael;
    • Santana, Iara;
    • Ramos Teixeira, Gustavo;
    • Evangelista Costa, Caio;
    • Manuel Reis, Rui
    Publication type:
    Article
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    Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report.

    Published in:
    Journal of Cancer Research & Clinical Oncology, 2025, v. 151, n. 1, p. 1, doi. 10.1007/s00432-024-06077-7
    By:
    • Seeling, Carolin;
    • Dahlum, Sonja;
    • Marienfeld, Ralf;
    • Jan, Vera;
    • Rack, Brigitte;
    • Gerstenmaier, Uwe;
    • Beer, Ambros J.;
    • Mayer-Steinacker, Regine;
    • Thaiss, Wolfgang;
    • Barth, Thomas F. E.;
    • Seufferlein, Thomas;
    • Gaisa, Nadine T.;
    • Stilgenbauer, Stephan;
    • Janni, Wolfgang;
    • Siebert, Reiner;
    • Döhner, Hartmut;
    • Gaidzik, Verena I.
    Publication type:
    Article
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    Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma.

    Published in:
    Cancers, 2020, v. 12, n. 9, p. 2503, doi. 10.3390/cancers12092503
    By:
    • Azzollini, Jacopo;
    • Schiavello, Elisabetta;
    • Buttarelli, Francesca Romana;
    • Clerici, Carlo Alfredo;
    • Tizzoni, Laura;
    • Vecchi, Giovanna De;
    • Capra, Fabio;
    • Pisati, Federica;
    • Biassoni, Veronica;
    • Runza, Letterio;
    • Carrabba, Giorgio;
    • Giangaspero, Felice;
    • Massimino, Maura;
    • Pensotti, Valeria;
    • Manoukian, Siranoush
    Publication type:
    Article
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    THE FORUM.

    Published in:
    1995
    Publication type:
    Case Study
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