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Page 1
The presence of germ line mosaicism in cleidocranial dysplasia.
Pal T, Napierala D, Becker TA, Loscalzo M, Baldridge D, Lee B, Sutphen R. Pal T, et al. Among authors: napierala d. Clin Genet. 2007 Jun;71(6):589-91. doi: 10.1111/j.1399-0004.2007.00812.x. Clin Genet. 2007. PMID: 17539909
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.
Purandare SM, Mendoza-Londono R, Yatsenko SA, Napierala D, Scott DA, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard JC, Ramji FG, Lachman R, Li S, Stankiewicz P, Lee B, Mulvihill JJ. Purandare SM, et al. Among authors: napierala d. Am J Med Genet A. 2008 Feb 15;146A(4):453-8. doi: 10.1002/ajmg.a.31750. Am J Med Genet A. 2008. PMID: 18203189 Free PMC article.
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. Kelley BP, et al. Among authors: napierala d. J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250. J Bone Miner Res. 2011. PMID: 20839288 Free PMC article.
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Mendoza-Londono R, et al. Among authors: napierala d. Am J Hum Genet. 2005 Jul;77(1):161-8. doi: 10.1086/431654. Epub 2005 May 27. Am J Hum Genet. 2005. PMID: 15924278 Free PMC article.
Mutations in SERPINF1 cause osteogenesis imperfecta type VI.
Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B. Homan EP, et al. Among authors: napierala d. J Bone Miner Res. 2011 Dec;26(12):2798-803. doi: 10.1002/jbmr.487. J Bone Miner Res. 2011. PMID: 21826736 Free PMC article.
28 results