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Germ-line mutations in epidermal growth factor receptor (EGFR) are rare but may contribute to oncogenesis: a novel germ-line mutation in EGFR detected in a patient with lung adenocarcinoma.
Centeno I, Blay P, Santamaría I, Astudillo A, Pitiot AS, Osorio FG, González-Arriaga P, Iglesias F, Menéndez P, Tardón A, Freije JM, Balbín M. Centeno I, et al. Among authors: santamaria i. BMC Cancer. 2011 May 16;11:172. doi: 10.1186/1471-2407-11-172. BMC Cancer. 2011. PMID: 21575252 Free PMC article.
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree.
Fernández-Martínez L, Villegas JA, Santamaría Í, Pitiot AS, Alvarado MG, Fernández S, Torres H, Paredes Á, Blay P, Balbín M. Fernández-Martínez L, et al. Among authors: santamaria i. BMC Cancer. 2017 Feb 21;17(1):146. doi: 10.1186/s12885-017-3136-5. BMC Cancer. 2017. PMID: 28222777 Free PMC article.
TP53 p.R72P genotype is a marker of poor prognosis in lung cancer.
Neumann MP, González MV, Pitiot AS, Santamaría Í, Martínez C, Tardón A, Astudillo A, Balbín M. Neumann MP, et al. Among authors: santamaria i. Cancer Biomark. 2018;21(4):747-754. doi: 10.3233/CBM-170230. Cancer Biomark. 2018. PMID: 29286914
Transplacental transfer of essential thrombocythemia in monozygotic twins.
Valdés-Mas R, Gutiérrez-Abril J, Pitiot AS, Santamaría I, Puente DA, Muñiz Lobato S, Balbín M, Puente XS. Valdés-Mas R, et al. Among authors: santamaria i. Blood. 2016 Oct 6;128(14):1894-1896. doi: 10.1182/blood-2016-06-724252. Epub 2016 Aug 10. Blood. 2016. PMID: 27512155 Free article. No abstract available.
Quantifying mutated and unmutated BCR-ABL transcripts confirms suitability of direct sequencing sensitivity in mutation analysis of patients with chronic myeloid leukemia with secondary resistance to tyrosine kinase inhibitors, regardless of ratio values.
Santamaría I, Payer AR, Pitiot AS, Alvarado MG, Balbín M. Santamaría I, et al. Leuk Lymphoma. 2010 Feb;51(2):350-4. doi: 10.3109/10428190903470349. Leuk Lymphoma. 2010. PMID: 20038222 No abstract available.
A t(1;9) translocation involving CSF3R as a novel mechanism in unclassifiable chronic myeloproliferative neoplasm.
Gutiérrez-Abril J, Santamaría I, Pitiot AS, Gutiérrez-Fernández A, Alvarez-Eguiluz Á, Vicente JM, Sanzo C, González-Muñiz S, Balbín M, Puente XS. Gutiérrez-Abril J, et al. Among authors: santamaria i. Haematologica. 2017 Dec;102(12):e510-e513. doi: 10.3324/haematol.2017.176693. Epub 2017 Sep 21. Haematologica. 2017. PMID: 28935846 Free PMC article. No abstract available.
94 results