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Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS. Krakow D, et al. Am J Med Genet A. 2016 Oct;170(10):2652-61. doi: 10.1002/ajmg.a.37772. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240702 Free PMC article.
NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.
Duran I, Tenney J, Warren CM, Sarukhanov A, Csukasi F, Skalansky M, Iruela-Arispe ML, Krakow D. Duran I, et al. Among authors: krakow d. Am J Med Genet A. 2018 Mar;176(3):649-656. doi: 10.1002/ajmg.a.38600. Epub 2018 Jan 24. Am J Med Genet A. 2018. PMID: 29363855 Free PMC article.
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. Camacho N, et al. Among authors: krakow d. Am J Med Genet A. 2010 May;152A(5):1169-77. doi: 10.1002/ajmg.a.33392. Am J Med Genet A. 2010. PMID: 20425821 Free PMC article.
The skeletal dysplasias.
Krakow D, Rimoin DL. Krakow D, et al. Genet Med. 2010 Jun;12(6):327-41. doi: 10.1097/GIM.0b013e3181daae9b. Genet Med. 2010. PMID: 20556869 Free article. Review.
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.
Li B, Krakow D, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Chang Y, Lachman RS, Yilmaz A, Kayserili H, Cohn DH. Li B, et al. Among authors: krakow d. Am J Med Genet A. 2014 Sep;164A(9):2407-11. doi: 10.1002/ajmg.a.36640. Epub 2014 Jun 20. Am J Med Genet A. 2014. PMID: 24953221 Free PMC article. No abstract available.
260 results