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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB. Lessel D, et al. Among authors: campbell se. Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19. Hum Genet. 2018. PMID: 30450527 Free PMC article.
Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome.
Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. Ullrich NJ, et al. Among authors: campbell se. AJNR Am J Neuroradiol. 2012 Sep;33(8):1512-8. doi: 10.3174/ajnr.A3088. Epub 2012 Mar 29. AJNR Am J Neuroradiol. 2012. PMID: 22460337 Free PMC article.
Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome.
Gordon LB, Massaro J, D'Agostino RB Sr, Campbell SE, Brazier J, Brown WT, Kleinman ME, Kieran MW; Progeria Clinical Trials Collaborative. Gordon LB, et al. Among authors: campbell se. Circulation. 2014 Jul 1;130(1):27-34. doi: 10.1161/CIRCULATIONAHA.113.008285. Epub 2014 May 2. Circulation. 2014. PMID: 24795390 Free PMC article.
194 results