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Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.
Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R; BAVCon Investigators, GenTAC Registry Investigators; Lemaire SA, Body SC, Milewicz DM. Prakash SK, et al. Among authors: silberbach m. Am J Med Genet A. 2016 Dec;170(12):3157-3164. doi: 10.1002/ajmg.a.37953. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27604636 Free PMC article.
Hand it to the skin in Costello syndrome.
Lin A, Harding C, Silberbach M. Lin A, et al. Among authors: silberbach m. J Pediatr. 2004 Jan;144(1):135. doi: 10.1016/S0022-3476(03)00346-9. J Pediatr. 2004. PMID: 14722534 No abstract available.
Focus on the heart and aorta in Turner syndrome.
Lin AE, Silberbach M. Lin AE, et al. Among authors: silberbach m. J Pediatr. 2007 Jun;150(6):572-4. doi: 10.1016/j.jpeds.2007.03.038. J Pediatr. 2007. PMID: 17517233 No abstract available.
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW. Lin AE, et al. Among authors: silberbach m. Am J Med Genet A. 2011 Mar;155A(3):486-507. doi: 10.1002/ajmg.a.33857. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344638
GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.
Holmes KW, Maslen CL, Kindem M, Kroner BL, Song HK, Ravekes W, Dietz HC, Weinsaft JW, Roman MJ, Devereux RB, Pyeritz RE, Bavaria J, Milewski K, Milewicz D, LeMaire SA, Hendershot T, Eagle KA, Tolunay HE, Desvigne-Nickens P, Silberbach M; GenTAC Registry Consortium. Holmes KW, et al. Among authors: silberbach m. Am J Med Genet A. 2013 Apr;161A(4):779-86. doi: 10.1002/ajmg.a.35836. Epub 2013 Feb 26. Am J Med Genet A. 2013. PMID: 23444191 Free PMC article.
80 results