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Page 1
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A. Saadi A, et al. Am J Med Genet A. 2023 Sep;191(9):2274-2289. doi: 10.1002/ajmg.a.63335. Epub 2023 Jun 30. Am J Med Genet A. 2023. PMID: 37387251
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA, de Souza CFM, Kubaski F, Trapp FB, Burin MG, Michelin-Tirelli K, Leistner-Segal S, Facchin ACB, Medeiros FS, Giugliani L, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Moreira MLC, Montano HQ, Baldo G, Giugliani R. Montenegro YHA, et al. Am J Med Genet A. 2022 Mar;188(3):760-767. doi: 10.1002/ajmg.a.62572. Epub 2021 Nov 22. Am J Med Genet A. 2022. PMID: 34806811
Recent developments on occupational and environmental toxicology.
Mendes AS, Costa C, Costa S, Pereira C, Fraga S, Barbosa F Jr, Teixeira JP. Mendes AS, et al. J Toxicol Environ Health A. 2017;80(13-15):595. doi: 10.1080/15287394.2017.1382124. Epub 2017 Oct 2. J Toxicol Environ Health A. 2017. PMID: 28968178 No abstract available.
Bioactive glass-based surfaces induce differential gene expression profiling of osteoblasts.
Ferraz EP, Oliveira FS, de Oliveira PT, Crovace MC, Peitl-Filho O, Beloti MM, Rosa AL. Ferraz EP, et al. J Biomed Mater Res A. 2017 Feb;105(2):419-423. doi: 10.1002/jbm.a.35915. Epub 2016 Oct 21. J Biomed Mater Res A. 2017. PMID: 27682446
Most of the regulated genes by both BioS-2P and 45S5 are associated with the process of mineralization highlighting their osteostimulation property that is, at least in part, derived from the ability to modulate the intracellular machinery to promote osteoblast genotype expressio …
Most of the regulated genes by both BioS-2P and 45S5 are associated with the process of mineralization highlighting their osteostimulation p …
168 results