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Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.
Patti G, Scianguetta S, Roberti D, Di Mascio A, Balsamo A, Brugnara M, Cappa M, Casale M, Cavarzere P, Cipriani S, Corbetta S, Gaudino R, Iughetti L, Martini L, Napoli F, Peri A, Salerno MC, Salerno R, Passeri E, Maghnie M, Perrotta S, Di Iorgi N. Patti G, et al. Among authors: brugnara m. Eur J Endocrinol. 2019 Sep;181(3):233-244. doi: 10.1530/EJE-19-0299. Eur J Endocrinol. 2019. PMID: 31238300 Free article.
Clinical and radiographic delineation of odontochondrodysplasia.
Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A. Unger S, et al. Among authors: brugnara m. Am J Med Genet A. 2008 Mar 15;146A(6):770-8. doi: 10.1002/ajmg.a.32214. Am J Med Genet A. 2008. PMID: 18241073 Free article.
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Morimoto M, Myung C, Beirnes K, Choi K, Asakura Y, Bokenkamp A, Bonneau D, Brugnara M, Charrow J, Colin E, Davis A, Deschenes G, Gentile M, Giordano M, Gormley AK, Govender R, Joseph M, Keller K, Lerut E, Levtchenko E, Massella L, Mayfield C, Najafian B, Parham D, Spranger J, Stenzel P, Yis U, Yu Z, Zonana J, Hendson G, Boerkoel CF. Morimoto M, et al. Among authors: brugnara m. Orphanet J Rare Dis. 2016 Nov 5;11(1):149. doi: 10.1186/s13023-016-0519-7. Orphanet J Rare Dis. 2016. PMID: 27816064 Free PMC article.
54 results