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Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J. Menao S, et al. Among authors: ramos fj, ramos m. Hum Mutat. 2009 Mar;30(3):E520-9. doi: 10.1002/humu.20966. Hum Mutat. 2009. PMID: 19177531
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Puisac B, Ramos M, Arnedo M, Menao S, Gil-Rodríguez MC, Teresa-Rodrigo ME, Pié A, de Karam JC, Wesselink JJ, Giménez I, Ramos FJ, Casals N, Gómez-Puertas P, Hegardt FG, Pié J. Puisac B, et al. Among authors: ramos fj, ramos m. Mol Biol Rep. 2012 Apr;39(4):4777-85. doi: 10.1007/s11033-011-1270-8. Epub 2011 Sep 28. Mol Biol Rep. 2012. PMID: 21952825
Association between missense variants of uncertain significance in the CHEK2 gene and hereditary breast cancer: a cosegregation and bioinformatics analysis.
Alonso N, Menao S, Lastra R, Arruebo M, Bueso MP, Pérez E, Murillo ML, Álvarez M, Alonso A, Rebollar S, Cruellas M, Arribas D, Ramos M, Isla D, Galano-Frutos JJ, García-Cebollada H, Sancho J, Andrés R. Alonso N, et al. Among authors: ramos m. Front Genet. 2024 Feb 27;14:1274108. doi: 10.3389/fgene.2023.1274108. eCollection 2023. Front Genet. 2024. PMID: 38476463 Free PMC article.
Evaluation of type 1 diabetes' partial clinical remission after three years of heterologous adipose tissue derived stromal/stem cells transplantation associated with vitamin D supplementation.
Leão IS, Dantas JR, Araújo DB, Ramos MEN, Silva KR, Batista LS, Pereira MFC, Luiz RR, da Silva CC, Maiolino A, Rebelatto CLK, Daga DR, Senegaglia AC, Brofman PRS, de Oliveira JEP, Zajdenverg L, Rodacki M. Leão IS, et al. Among authors: ramos men. Diabetol Metab Syndr. 2024 May 24;16(1):114. doi: 10.1186/s13098-024-01302-2. Diabetol Metab Syndr. 2024. PMID: 38790009 Free PMC article.
2,964 results