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288 results

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Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Delea M, Espeche LD, Bruque CD, Bidondo MP, Massara LS, Oliveri J, Brun P, Cosentino VR, Martinoli C, Tolaba N, Picon C, Ponce Zaldua ME, Ávila S, Gutnisky V, Perez M, Furforo L, Buzzalino ND, Liascovich R, Groisman B, Rittler M, Rozental S, Barbero P, Dain L. Delea M, et al. Among authors: avila s. Genes (Basel). 2018 Sep 11;9(9):454. doi: 10.3390/genes9090454. Genes (Basel). 2018. PMID: 30208644 Free PMC article.
RENAC: National Registry of Congenital Anomalies of Argentina.
Groisman B, Bidondo MP, Barbero P, Gili JA, Liascovich R; RENAC Task Force. Groisman B, et al. Arch Argent Pediatr. 2013 Dec;111(6):484-94. doi: 10.5546/aap.2013.eng.484. Arch Argent Pediatr. 2013. PMID: 24196761 Free article. English, Spanish.
Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.
Solano AR, Cardoso FC, Romano V, Perazzo F, Bas C, Recondo G, Santillan FB, Gonzalez E, Abalo E, Viniegra M, Michel JD, Nuñez LM, Noblia CM, Mc Lean I, Canton ED, Chacon RD, Cortese G, Varela EB, Greco M, Barrientos ML, Avila SA, Vuotto HD, Lorusso A, Podesta EJ, Mando OG. Solano AR, et al. Oncotarget. 2016 Jul 24;8(36):60487-60495. doi: 10.18632/oncotarget.10814. eCollection 2017 Sep 1. Oncotarget. 2016. PMID: 28947987 Free PMC article.
PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
Gonzalez A, Del Greco F, Vargas-Roig L, Brun B, Tabares G, Mampel A, Montes C, Martin C, Lopez M, Rossi N, Bruno L, Ponce C, Quaglio P, Yanzi A, Acevedo S, Lugo L, Lopez Breccia P, Avila S, Sisterna S, Del Castillo MS, Vazquez M, Nuñez LM. Gonzalez A, et al. Among authors: avila s. Breast Cancer Res Treat. 2022 Jul;194(2):403-412. doi: 10.1007/s10549-022-06620-5. Epub 2022 May 24. Breast Cancer Res Treat. 2022. PMID: 35610400
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG, Luna JD, Labat N, Yadarola MB, Bainttein S, Esposito E, Ibañez A, Barbaro EI, Álvarez Mendiara A, Picotti CP, Chirino Misisian A, Andreussi L, Gras J, Capalbo L, Visotto M, Dipierri JE, Alcoba E, Fernández Gabrielli L, Ávila S, Aucar ME, Martin DM, Ormaechea GJ, Inga ME, Francone AA, Charles M, Zompa T, Pérez PJ, Lotersztein V, Nuova PJ, Canonero IB, Mahroo OA, Michaelides M, Arno G, Daich Varela M. Schlottmann PG, et al. Among authors: avila s. NPJ Genom Med. 2023 May 22;8(1):8. doi: 10.1038/s41525-023-00352-1. NPJ Genom Med. 2023. PMID: 37217489 Free PMC article.
288 results