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Page 1
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Merrill AE, et al. Among authors: sebald et. Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015. Am J Hum Genet. 2009. PMID: 19361615 Free PMC article.
GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D. Dawson K, et al. Am J Hum Genet. 2006 Apr;78(4):708-12. doi: 10.1086/503204. Epub 2006 Feb 24. Am J Hum Genet. 2006. PMID: 16532400 Free PMC article.
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: sebald et. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29. Nat Genet. 2004. PMID: 14991055
A transcriptional profile of human fetal cartilage.
Pogue R, Sebald E, King L, Kronstadt E, Krakow D, Cohn DH. Pogue R, et al. Matrix Biol. 2004 Aug;23(5):299-307. doi: 10.1016/j.matbio.2004.07.003. Matrix Biol. 2004. PMID: 15464362
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.
Steiner C, Ehtesham N, Taylor KD, Sebald E, Cantor R, King LM, Guo X, Hang T, Hu MS, Cui JR, Friedman B, Norato D, Allanson J, Honeywell C, Mettler G, Field F, Lachman R, Cohn DH, Krakow D. Steiner C, et al. J Med Genet. 2004 Apr;41(4):266-9. doi: 10.1136/jmg.2003.012252. J Med Genet. 2004. PMID: 15060099 Free PMC article.
Dominance of SOX9 function over RUNX2 during skeletogenesis.
Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Zhou G, et al. Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19004-9. doi: 10.1073/pnas.0605170103. Epub 2006 Dec 1. Proc Natl Acad Sci U S A. 2006. PMID: 17142326 Free PMC article.
11 results