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Genetics of craniosynostosis.
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Kimonis V, et al. Among authors: boyadjiev sa. Semin Pediatr Neurol. 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. Semin Pediatr Neurol. 2007. PMID: 17980312 Review.
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA. Yagnik G, et al. Among authors: boyadjiev sa. Hum Mutat. 2012 Dec;33(12):1626-9. doi: 10.1002/humu.22166. Epub 2012 Aug 13. Hum Mutat. 2012. PMID: 22829454 Free PMC article.
Brain morphology in nonsyndromic unicoronal craniosynostosis.
Aldridge K, Kane AA, Marsh JL, Panchal J, Boyadjiev SA, Yan P, Govier D, Ahmad W, Richtsmeier JT. Aldridge K, et al. Among authors: boyadjiev sa. Anat Rec A Discov Mol Cell Evol Biol. 2005 Aug;285(2):690-8. doi: 10.1002/ar.a.20201. Anat Rec A Discov Mol Cell Evol Biol. 2005. PMID: 15977220 Free 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: boyadjiev sa. 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.
Genetic analysis of non-syndromic craniosynostosis.
Boyadjiev SA; International Craniosynostosis Consortium. Boyadjiev SA, et al. Orthod Craniofac Res. 2007 Aug;10(3):129-37. doi: 10.1111/j.1601-6343.2007.00393.x. Orthod Craniofac Res. 2007. PMID: 17651129 Review.
Genetic advances in craniosynostosis.
Lattanzi W, Barba M, Di Pietro L, Boyadjiev SA. Lattanzi W, et al. Among authors: boyadjiev sa. Am J Med Genet A. 2017 May;173(5):1406-1429. doi: 10.1002/ajmg.a.38159. Epub 2017 Feb 4. Am J Med Genet A. 2017. PMID: 28160402 Free PMC article. Review.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium; Boyadjiev SA, Wilkie AOM. Calpena E, et al. Among authors: boyadjiev sa. Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499606 Free PMC article.
79 results