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Year Number of Results
2017 1
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2019 1
2020 2
2021 2
2022 7
2023 2
2024 2

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14 results

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Page 1
Multiple familial trichoepitheliomas: Ultrasonographic findings.
Capusan TM, Noguera-Morel L, Bueno-Martínez E, Colmenero I, Torrelo A, González-Sarmiento R, Hernández-Martin A. Capusan TM, et al. Among authors: bueno martinez e. Skin Res Technol. 2020 Jan;26(1):137-139. doi: 10.1111/srt.12746. Epub 2019 Jul 23. Skin Res Technol. 2020. PMID: 31338873 No abstract available.
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
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.
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.
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.
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.
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.
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.
Siffo S, Adrover E, Citterio CE, Miras MB, Balbi VA, Chiesa A, Weill J, Sobrero G, González VG, Papendieck P, Martinez EB, Gonzalez-Sarmiento R, Rivolta CM, Targovnik HM. Siffo S, et al. Among authors: martinez eb. Mol Cell Endocrinol. 2018 Sep 15;473:1-16. doi: 10.1016/j.mce.2017.12.009. Epub 2017 Dec 22. Mol Cell Endocrinol. 2018. PMID: 29275168
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
14 results