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Hutchinson-Gilford Progeria syndrome: Report of the first Togolese case.
Guedenon KM, Doubaj Y, Akolly DAE, Barry Moussa W, Saka B, Adjenou K, Belo M, Pio M, Mihluedo-Agbolan KA, Vonor K, Amedome KM, Tchaou M, Atakouma YD, Gbadoe AD, Dossou CF, Fiawoo M, Gnassingbe K, Pitche P, Agbèrè DA, Gnamey DK. Guedenon KM, et al. Among authors: doubaj y. Am J Med Genet A. 2020 Jun;182(6):1316-1320. doi: 10.1002/ajmg.a.61581. Epub 2020 Apr 16. Am J Med Genet A. 2020. PMID: 32297714
An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A. Doubaj Y, et al. Am J Med Genet A. 2012 Nov;158A(11):2881-7. doi: 10.1002/ajmg.a.35557. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991222
[Three cases of Hutchinson-Gilford progeria syndrome].
Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A. Doubaj Y, et al. Arch Pediatr. 2011 Feb;18(2):156-9. doi: 10.1016/j.arcped.2010.11.014. Epub 2011 Jan 19. Arch Pediatr. 2011. PMID: 21251803 French.
Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.
Cherkaoui Jaouad I, Lyahyai J, Guaoua S, El Alloussi M, Zrhidri A, Doubaj Y, Boulanouar A, Sefiani A. Cherkaoui Jaouad I, et al. Among authors: doubaj y. Eur J Med Genet. 2017 May;60(5):239-244. doi: 10.1016/j.ejmg.2017.02.004. Epub 2017 Feb 27. Eur J Med Genet. 2017. PMID: 28246031
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: doubaj y. Cells. 2016 Jul 11;5(3):31. doi: 10.3390/cells5030031. Cells. 2016. PMID: 27409638 Free PMC article.
14 results