Brunetti-Pierri N - Search Results

1

Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.

Polishchuk EV, Concilli M, Iacobacci S, Chesi G, Pastore N, Piccolo P, Paladino S, Baldantoni D, van IJzendoorn SC, Chan J, Chang CJ, Amoresano A, Pane F, Pucci P, Tarallo A, Parenti G, Brunetti-Pierri N, Settembre C, Ballabio A, Polishchuk RS. Polishchuk EV, et al. Dev Cell. 2014 Jun 23;29(6):686-700. doi: 10.1016/j.devcel.2014.04.033. Epub 2014 Jun 5. Dev Cell. 2014. PMID: 24909901 Free PMC article.

2

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. Parenti G, et al. Am J Med Genet. 1997 Dec 12;73(2):139-43. doi: 10.1002/(sici)1096-8628(19971212)73:2<139::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9409863

3

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Brunetti-Pierri N, et al. Am J Hum Genet. 2002 Oct;71(4):952-8. doi: 10.1086/342668. Epub 2002 Aug 20. Am J Hum Genet. 2002. PMID: 12189593 Free PMC article.

4

X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. Brunetti-Pierri N, et al. Am J Med Genet A. 2003 Mar 1;117A(2):164-8. doi: 10.1002/ajmg.a.10950. Am J Med Genet A. 2003. PMID: 12567415

5

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G. Rossi M, et al. Am J Med Genet A. 2005 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. Am J Med Genet A. 2005. PMID: 15580635 Review.

6

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.

Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. Brunetti-Pierri N, et al. Am J Med Genet A. 2010 Jul;152A(7):1825-31. doi: 10.1002/ajmg.a.33470. Am J Med Genet A. 2010. PMID: 20583181 Free PMC article.

7

Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.

Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina D, Settembre C, Gavina M, Pulze L, Giardino I, Pettoello-Mantovani M, D'Apolito M, Guido S, Masliah E, Spencer B, Quaratino S, Raia V, Ballabio A, Maiuri L. Luciani A, et al. Nat Cell Biol. 2010 Sep;12(9):863-75. doi: 10.1038/ncb2090. Epub 2010 Aug 15. Nat Cell Biol. 2010. PMID: 20711182

8

Intrathecal injection of helper-dependent adenoviral vectors results in long-term transgene expression in neuroependymal cells and neurons.

Dindot S, Piccolo P, Grove N, Palmer D, Brunetti-Pierri N. Dindot S, et al. Hum Gene Ther. 2011 Jun;22(6):745-51. doi: 10.1089/hum.2010.147. Epub 2011 Mar 18. Hum Gene Ther. 2011. PMID: 21175294 Free PMC article.

9

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

Brunetti-Pierri N, Piccolo P, Morava E, Wevers RA, McGuirk M, Johnson YR, Urban Z, Dishop MK, Potocki L. Brunetti-Pierri N, et al. Clin Dysmorphol. 2011 Apr;20(2):77-81. doi: 10.1097/MCD.0b013e3283439676. Clin Dysmorphol. 2011. PMID: 21285876 Free PMC article.

10

Autosomal dominant Ménétrier-like disease.

Strisciuglio C, Corleto VD, Brunetti-Pierri N, Piccolo P, Sangermano R, Rindi G, Martini M, D'Armiento FP, Staiano A, Miele E. Strisciuglio C, et al. J Pediatr Gastroenterol Nutr. 2012 Dec;55(6):717-20. doi: 10.1097/MPG.0b013e3182645c2f. J Pediatr Gastroenterol Nutr. 2012. PMID: 22711003

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