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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. Among authors: milewicz dm. 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.
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G. Frédéric MY, et al. Hum Mutat. 2009 Feb;30(2):181-90. doi: 10.1002/humu.20794. Hum Mutat. 2009. PMID: 18767143 Free article.
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
Villamizar C, Regalado ES, Fadulu VT, Hasham SN, Gupta P, Willing MC, Kuang SQ, Guo D, Muilenburg A, Yee RW, Fan Y, Towbin J, Coselli JS, LeMaire SA, Milewicz DM. Villamizar C, et al. Among authors: milewicz dm. Eur J Med Genet. 2010 Mar-Apr;53(2):80-4. doi: 10.1016/j.ejmg.2009.11.001. Epub 2009 Nov 23. Eur J Med Genet. 2010. PMID: 19941982 Free PMC article.
339 results