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Nonsyndromic craniosynostosis: novel coding variants.
Sewda A, White SR, Erazo M, Hao K, García-Fructuoso G, Fernández-Rodriguez I, Heuzé Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW, Peter I. Sewda A, et al. Among authors: richtsmeier jt. Pediatr Res. 2019 Mar;85(4):463-468. doi: 10.1038/s41390-019-0274-2. Epub 2019 Jan 14. Pediatr Res. 2019. PMID: 30651579 Free PMC article.
Brain phenotypes in two FGFR2 mouse models for Apert syndrome.
Aldridge K, Hill CA, Austin JR, Percival C, Martinez-Abadias N, Neuberger T, Wang Y, Jabs EW, Richtsmeier JT. Aldridge K, et al. Among authors: richtsmeier jt. Dev Dyn. 2010 Mar;239(3):987-97. doi: 10.1002/dvdy.22218. Dev Dyn. 2010. PMID: 20077479 Free PMC article.
p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
Wang Y, Zhou X, Oberoi K, Phelps R, Couwenhoven R, Sun M, Rezza A, Holmes G, Percival CJ, Friedenthal J, Krejci P, Richtsmeier JT, Huso DL, Rendl M, Jabs EW. Wang Y, et al. Among authors: richtsmeier jt. J Clin Invest. 2012 Jun;122(6):2153-64. doi: 10.1172/JCI62644. Epub 2012 May 15. J Clin Invest. 2012. PMID: 22585574 Free PMC article.
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. Justice CM, et al. Among authors: richtsmeier jt. Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18. Nat Genet. 2012. PMID: 23160099 Free PMC article.
137 results