Brunetti-Pierri N - Search Results

1

von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development.

Brunetti-Pierri N, Mendoza-Londono R, Shah MR, Karaviti L, Lee B. Brunetti-Pierri N, et al. Am J Med Genet A. 2004 Apr 30;126A(3):299-302. doi: 10.1002/ajmg.a.20593. Am J Med Genet A. 2004. PMID: 15054846 Review.

2

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.

Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Scaglia F, et al. J Nutr. 2004 Oct;134(10 Suppl):2775S-2782S; discussion 2796S-2797S. doi: 10.1093/jn/134.10.2775S. J Nutr. 2004. PMID: 15465784 Free article. Review.

3

Gene therapy for inborn errors of liver metabolism.

Brunetti-Pierri N, Lee B. Brunetti-Pierri N, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):13-24. doi: 10.1016/j.ymgme.2005.07.015. Mol Genet Metab. 2005. PMID: 16154372 Review.

4

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

Lanpher B, Brunetti-Pierri N, Lee B. Lanpher B, et al. Nat Rev Genet. 2006 Jun;7(6):449-60. doi: 10.1038/nrg1880. Nat Rev Genet. 2006. PMID: 16708072 Review.

5

Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors.

Cerullo V, Seiler MP, Mane V, Brunetti-Pierri N, Clarke C, Bertin TK, Rodgers JR, Lee B. Cerullo V, et al. Mol Ther. 2007 Feb;15(2):378-85. doi: 10.1038/sj.mt.6300031. Mol Ther. 2007. PMID: 17235317 Free article.

6

Generalized metabolic bone disease in Neurofibromatosis type I.

Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, O'Brian Smith E, Ellis KJ, Lee B. Brunetti-Pierri N, et al. Mol Genet Metab. 2008 May;94(1):105-11. doi: 10.1016/j.ymgme.2007.12.004. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18289904 Free PMC article.

7

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M. Brunetti-Pierri N, et al. Am J Med Genet A. 2008 May 1;146A(9):1230-3. doi: 10.1002/ajmg.a.32303. Am J Med Genet A. 2008. PMID: 18386804 Free PMC article. No abstract available.

8

Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors.

Brunetti-Pierri N, Clarke C, Mane V, Palmer DJ, Lanpher B, Sun Q, O'Brien W, Lee B. Brunetti-Pierri N, et al. J Gene Med. 2008 Aug;10(8):890-6. doi: 10.1002/jgm.1218. J Gene Med. 2008. PMID: 18563850 Free PMC article.

9

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA. Brunetti-Pierri N, et al. Am J Med Genet A. 2008 Nov 1;146A(21):2804-9. doi: 10.1002/ajmg.a.32530. Am J Med Genet A. 2008. PMID: 18831060

10

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Brunetti-Pierri N, et al. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Nat Genet. 2008. PMID: 19029900 Free PMC article.

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