Sangiorgi L - Search Results

1

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.

Sgariglia F, Pedrini E, Bradfield JP, Bhatti TR, D'Adamo P, Dormans JP, Gunawardena AT, Hakonarson H, Hecht JT, Sangiorgi L, Pacifici M, Enomoto-Iwamoto M, Grant SF. Sgariglia F, et al. Among authors: sangiorgi l. Bone. 2015 Mar;72:123-7. doi: 10.1016/j.bone.2014.11.024. Epub 2014 Dec 9. Bone. 2015. PMID: 25498973 Free PMC article.

2

Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutation.

Capponcelli S, Pedrini E, Cerone MA, Corti V, Fontanesi S, Alessio M, Bachi A, Soddu S, Ribatti D, Picci P, Helman LJ, Cantelli-Forti G, Sangiorgi L. Capponcelli S, et al. Among authors: sangiorgi l. Hum Mutat. 2005 Aug;26(2):94-103. doi: 10.1002/humu.20192. Hum Mutat. 2005. PMID: 15977174

3

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.

Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi L, Dallapiccola B. Pedrini E, et al. Among authors: sangiorgi l. Hum Mutat. 2005 Sep;26(3):280. doi: 10.1002/humu.9359. Hum Mutat. 2005. PMID: 16088908

4

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W. Jennes I, et al. Among authors: sangiorgi l. Hum Mutat. 2009 Dec;30(12):1620-7. doi: 10.1002/humu.21123. Hum Mutat. 2009. PMID: 19810120 Review.

5

Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation.

Zuntini M, Pedrini E, Parra A, Sgariglia F, Gentile FV, Pandolfi M, Alberghini M, Sangiorgi L. Zuntini M, et al. Among authors: sangiorgi l. Oncogene. 2010 Jul 1;29(26):3827-34. doi: 10.1038/onc.2010.135. Epub 2010 Apr 26. Oncogene. 2010. PMID: 20418910

6

MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures.

Zuntini M, Salvatore M, Pedrini E, Parra A, Sgariglia F, Magrelli A, Taruscio D, Sangiorgi L. Zuntini M, et al. Among authors: sangiorgi l. Clin Genet. 2010 Dec;78(6):507-16. doi: 10.1111/j.1399-0004.2010.01490.x. Clin Genet. 2010. PMID: 20662852

7

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML. Bowen ME, et al. Among authors: sangiorgi l. PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14. PLoS Genet. 2011. PMID: 21533187 Free PMC article.

8

Identification and functional characterization of the human EXT1 promoter region.

Jennes I, Zuntini M, Mees K, Palagani A, Pedrini E, De Cock G, Fransen E, Vanden Berghe W, Sangiorgi L, Wuyts W. Jennes I, et al. Among authors: sangiorgi l. Gene. 2012 Jan 15;492(1):148-59. doi: 10.1016/j.gene.2011.10.034. Epub 2011 Oct 19. Gene. 2012. PMID: 22037484

9

Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors.

Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, Sgariglia F, Zuntini M, Campanacci L, Fabbri N, Pignotti E, Wuyts W, Sangiorgi L. Pedrini E, et al. Among authors: sangiorgi l. J Bone Joint Surg Am. 2011 Dec 21;93(24):2294-302. doi: 10.2106/JBJS.J.00949. J Bone Joint Surg Am. 2011. PMID: 22258776

10

Validation of a new multiple osteochondromas classification through Switching Neural Networks.

Mordenti M, Ferrari E, Pedrini E, Fabbri N, Campanacci L, Muselli M, Sangiorgi L. Mordenti M, et al. Among authors: sangiorgi l. Am J Med Genet A. 2013 Mar;161A(3):556-60. doi: 10.1002/ajmg.a.35819. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401177

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