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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Among authors: hernandez a. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium; Lapunzina P. Tenorio J, et al. Among authors: hernandez a. Clin Genet. 2019 Jun;95(6):726-731. doi: 10.1111/cge.13504. Epub 2019 Apr 29. Clin Genet. 2019. PMID: 30628072
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S; SOGRI Consortium; Cigudosa JC, Pérez-Jurado LA, Lapunzina P. Tenorio J, et al. Among authors: hernandez a. Clin Genet. 2020 Mar;97(3):467-476. doi: 10.1111/cge.13689. Epub 2020 Jan 23. Clin Genet. 2020. PMID: 31972898
Feasibility and safety of transvaginal specimen extraction in deep endometriosis colorectal resectional surgery and analysis of risk factors for postoperative complications.
Spagnolo E, Marí-Alexandre J, Di Saverio S, Gilabert-Estellés J, Agababyan C, Garcia-Casarrubios P, López A, González-Cantó E, Pascual I, Hernández A. Spagnolo E, et al. Among authors: hernandez a. Tech Coloproctol. 2022 Apr;26(4):261-270. doi: 10.1007/s10151-021-02565-x. Epub 2022 Jan 29. Tech Coloproctol. 2022. PMID: 35091790
Clinicopathological features and prognostic significance of CTNNB1 mutation in low-grade, early-stage endometrial endometrioid carcinoma.
Ruz-Caracuel I, López-Janeiro Á, Heredia-Soto V, Ramón-Patino JL, Yébenes L, Berjón A, Hernández A, Gallego A, Ruiz P, Redondo A, Peláez-García A, Mendiola M, Hardisson D. Ruz-Caracuel I, et al. Among authors: hernandez a. Virchows Arch. 2021 Dec;479(6):1167-1176. doi: 10.1007/s00428-021-03176-5. Epub 2021 Aug 21. Virchows Arch. 2021. PMID: 34420090 Free PMC article.
Proteomic Analysis of Low-Grade, Early-Stage Endometrial Carcinoma Reveals New Dysregulated Pathways Associated with Cell Death and Cell Signaling.
López-Janeiro Á, Ruz-Caracuel I, Ramón-Patino JL, De Los Ríos V, Villalba Esparza M, Berjón A, Yébenes L, Hernández A, Masetto I, Kadioglu E, Goubert V, Heredia-Soto V, Barderas R, Casal JI, de Andrea CE, Redondo A, Mendiola M, Peláez-García A, Hardisson D. López-Janeiro Á, et al. Among authors: hernandez a. Cancers (Basel). 2021 Feb 14;13(4):794. doi: 10.3390/cancers13040794. Cancers (Basel). 2021. PMID: 33672863 Free PMC article.
5,385 results