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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. Among authors: da silva n. 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
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Lévy N, Bartoli M, De Sandre-Giovannoli A. Barthélémy F, et al. Among authors: da silva n. Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649378 Free PMC article.
Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.
Harhouri K, Navarro C, Baquerre C, Da Silva N, Bartoli C, Casey F, Mawuse GK, Doubaj Y, Lévy N, De Sandre-Giovannoli A. Harhouri K, et al. Among authors: da silva n. Cells. 2016 Jul 11;5(3):31. doi: 10.3390/cells5030031. Cells. 2016. PMID: 27409638 Free PMC article.
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dulioust E, Gacon G, Bienvenu T, Touré A. Dirami T, et al. Among authors: da silva n. Am J Hum Genet. 2013 May 2;92(5):760-6. doi: 10.1016/j.ajhg.2013.03.016. Epub 2013 Apr 11. Am J Hum Genet. 2013. PMID: 23582645 Free PMC article.
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Khaoula R, Cerino M, Da Silva N, Delague V, Nahili H, Kriouile Y, Gorokhova S, Bartoli M, Saïle R, Barakat A, Krahn M. Khaoula R, et al. Among authors: da silva n. Mol Biol Rep. 2021 Oct;48(10):6999-7006. doi: 10.1007/s11033-021-06530-7. Epub 2021 Sep 22. Mol Biol Rep. 2021. PMID: 34553317 Free article.
906 results