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14 results

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Page 1
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.
Sanoguera-Miralles L, Llinares-Burguet I, Bueno-Martínez E, Ramadane-Morchadi L, Stuani C, Valenzuela-Palomo A, García-Álvarez A, Pérez-Segura P, Buratti E, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: bueno martinez e. J Pathol. 2024 Apr;262(4):395-409. doi: 10.1002/path.6243. Epub 2024 Feb 9. J Pathol. 2024. PMID: 38332730
Predominantly Pro-Inflammatory Phenotype with Mixed M1/M2 Polarization of Peripheral Blood Classical Monocytes and Monocyte-Derived Macrophages among Patients with Excessive Ethanol Intake.
Fernández-Regueras M, Carbonell C, Salete-Granado D, García JL, Gragera M, Pérez-Nieto MÁ, Morán-Plata FJ, Mayado A, Torres JL, Corchete LA, Usategui-Martín R, Bueno-Martínez E, Rojas-Pirela M, Sabio G, González-Sarmiento R, Orfao A, Laso FJ, Almeida J, Marcos M. Fernández-Regueras M, et al. Among authors: bueno martinez e. Antioxidants (Basel). 2023 Sep 1;12(9):1708. doi: 10.3390/antiox12091708. Antioxidants (Basel). 2023. PMID: 37760011 Free PMC article.
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Infante M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: bueno martinez e. Clin Chem. 2024 Jan 4;70(1):319-338. doi: 10.1093/clinchem/hvad125. Clin Chem. 2024. PMID: 37725924
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.
Valenzuela-Palomo A, Sanoguera-Miralles L, Bueno-Martínez E, Esteban-Sánchez A, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Gómez-Barrero S, de la Hoya M, Velasco-Sampedro EA. Valenzuela-Palomo A, et al. Among authors: bueno martinez e. Cancers (Basel). 2022 Sep 19;14(18):4541. doi: 10.3390/cancers14184541. Cancers (Basel). 2022. PMID: 36139699 Free PMC article.
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
Sanoguera-Miralles L, Bueno-Martínez E, Valenzuela-Palomo A, Esteban-Sánchez A, Llinares-Burguet I, Pérez-Segura P, García-Álvarez A, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: bueno martinez e. Cancers (Basel). 2022 Jun 15;14(12):2960. doi: 10.3390/cancers14122960. Cancers (Basel). 2022. PMID: 35740625 Free PMC article.
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco-Sampedro EA. Bueno-Martínez E, et al. J Pathol. 2022 Sep;258(1):83-101. doi: 10.1002/path.5979. Epub 2022 Jul 15. J Pathol. 2022. PMID: 35716007 Free PMC article.
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF, Papendieck P, Sobrero G, Balbi VA, Belforte FS, Martínez EB, Adrover E, Olcese MC, Chiesa A, Miras MB, González VG, Pio MG, González-Sarmiento R, Targovnik HM, Rivolta CM. Molina MF, et al. Among authors: martinez eb. Endocrine. 2022 Jun;77(1):86-101. doi: 10.1007/s12020-022-03054-3. Epub 2022 May 4. Endocrine. 2022. PMID: 35507000
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.
Zhu L, Miao B, Dymerska D, Kuswik M, Bueno-Martínez E, Sanoguera-Miralles L, Velasco EA, Paramasivam N, Schlesner M, Kumar A, Yuan Y, Lubinski J, Bandapalli OR, Hemminki K, Försti A. Zhu L, et al. Among authors: bueno martinez e. Cancers (Basel). 2022 Jan 28;14(3):670. doi: 10.3390/cancers14030670. Cancers (Basel). 2022. PMID: 35158942 Free PMC article.
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A, Bueno-Martínez E, Sanoguera-Miralles L, Lorca V, Fraile-Bethencourt E, Esteban-Sánchez A, Gómez-Barrero S, Carvalho S, Allen J, García-Álvarez A, Pérez-Segura P, Dorling L, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco EA. Valenzuela-Palomo A, et al. Among authors: bueno martinez e. J Pathol. 2022 Mar;256(3):321-334. doi: 10.1002/path.5839. Epub 2021 Dec 28. J Pathol. 2022. PMID: 34846068 Free PMC article.
14 results