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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Milewicz DM, Østergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Adès L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. Milewicz DM, et al. Among authors: guo d. Am J Med Genet A. 2010 Oct;152A(10):2437-43. doi: 10.1002/ajmg.a.33657. Am J Med Genet A. 2010. PMID: 20734336 Free PMC article.
A novel mutation in human PAX9 causes molar oligodontia.
Frazier-Bowers SA, Guo DC, Cavender A, Xue L, Evans B, King T, Milewicz D, D'Souza RN. Frazier-Bowers SA, et al. Among authors: guo dc, d souza rn. J Dent Res. 2002 Feb;81(2):129-33. J Dent Res. 2002. PMID: 11827258
Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.
Boccalandro C, De Mattia F, Guo DC, Xue L, Orlander P, King TM, Gupta P, Deen PM, Lavis VR, Milewicz DM. Boccalandro C, et al. J Am Soc Nephrol. 2004 May;15(5):1223-31. doi: 10.1097/01.asn.0000125248.85135.43. J Am Soc Nephrol. 2004. PMID: 15100362 Free article.
7,915 results