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343 results

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Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands.
Suriano G, Oliveira C, Ferreira P, Machado JC, Bordin MC, De Wever O, Bruyneel EA, Moguilevsky N, Grehan N, Porter TR, Richards FM, Hruban RH, Roviello F, Huntsman D, Mareel M, Carneiro F, Caldas C, Seruca R. Suriano G, et al. Among authors: machado jc. Hum Mol Genet. 2003 Mar 1;12(5):575-82. doi: 10.1093/hmg/ddg048. Hum Mol Genet. 2003. PMID: 12588804
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J. Vissers LE, et al. Among authors: machado jc. Eur J Hum Genet. 2015 Mar;23(3):317-24. doi: 10.1038/ejhg.2014.115. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939586 Free PMC article.
Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL.
Deans ZC, Costa JL, Cree I, Dequeker E, Edsjö A, Henderson S, Hummel M, Ligtenberg MJ, Loddo M, Machado JC, Marchetti A, Marquis K, Mason J, Normanno N, Rouleau E, Schuuring E, Snelson KM, Thunnissen E, Tops B, Williams G, van Krieken H, Hall JA; IQN Path ASBL. Deans ZC, et al. Among authors: machado jc. Virchows Arch. 2017 Jan;470(1):5-20. doi: 10.1007/s00428-016-2025-7. Epub 2016 Sep 27. Virchows Arch. 2017. PMID: 27678269 Free PMC article. Review.
Simultaneous detection of lung fusions using a multiplex RT-PCR next generation sequencing-based approach: a multi-institutional research study.
Vaughn CP, Costa JL, Feilotter HE, Petraroli R, Bagai V, Rachiglio AM, Marino FZ, Tops B, Kurth HM, Sakai K, Mafficini A, Bastien RRL, Reiman A, Le Corre D, Boag A, Crocker S, Bihl M, Hirschmann A, Scarpa A, Machado JC, Blons H, Sheils O, Bramlett K, Ligtenberg MJL, Cree IA, Normanno N, Nishio K, Laurent-Puig P. Vaughn CP, et al. Among authors: machado jc. BMC Cancer. 2018 Aug 16;18(1):828. doi: 10.1186/s12885-018-4736-4. BMC Cancer. 2018. PMID: 30115026 Free PMC article.
Circulating Tumor DNA: A Step into the Future of Cancer Management.
Fernandes Marques J, Pereira Reis J, Fernandes G, Hespanhol V, Machado JC, Costa JL. Fernandes Marques J, et al. Among authors: machado jc. Acta Cytol. 2019;63(6):456-465. doi: 10.1159/000492917. Epub 2019 Mar 8. Acta Cytol. 2019. PMID: 30852572 Review.
Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation.
Fernandes MGO, Jacob M, Martins N, Moura CS, Guimarães S, Reis JP, Justino A, Pina MJ, Cirnes L, Sousa C, Pinto J, Marques JA, Machado JC, Hespanhol V, Costa JL. Fernandes MGO, et al. Among authors: machado jc. Cancers (Basel). 2019 Aug 22;11(9):1229. doi: 10.3390/cancers11091229. Cancers (Basel). 2019. PMID: 31443496 Free PMC article.
343 results