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Page 1
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Farrington-Rock C, et al. Among authors: lachman rs. Hum Mutat. 2006 Jul;27(7):705-10. doi: 10.1002/humu.20348. Hum Mutat. 2006. PMID: 16752402
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: lachman rs. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29. Nat Genet. 2004. PMID: 14991055
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Krakow D, et al. Among authors: lachman rs. Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19. Am J Hum Genet. 2009. PMID: 19232556 Free PMC article.
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. Lee H, et al. Among authors: lachman rs. Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464252 Free PMC article.
Occipital projections in the skeletal dysplasias.
Takamine Y, Lachman RS, Field FM, Rimoin DL. Takamine Y, et al. Among authors: lachman rs. Pediatr Radiol. 2004 Jul;34(7):530-4. doi: 10.1007/s00247-004-1191-y. Epub 2004 Apr 24. Pediatr Radiol. 2004. PMID: 15107965
Hand involvement in Schmid metaphyseal chondrodysplasia.
Elliott AM, Field FM, Rimoin DL, Lachman RS. Elliott AM, et al. Among authors: lachman rs. Am J Med Genet A. 2005 Jan 15;132A(2):191-3. doi: 10.1002/ajmg.a.30433. Am J Med Genet A. 2005. PMID: 15578582
281 results