Anesi L - Search Results

1

Molecular characterization of large deletions in the von Hippel-Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangements.

Casarin A, Martella M, Polli R, Leonardi E, Anesi L, Murgia A. Casarin A, et al. Among authors: anesi l. Mol Diagn Ther. 2006;10(4):243-9. doi: 10.1007/BF03256463. Mol Diagn Ther. 2006. PMID: 16884328

2

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A. Sartori S, et al. Among authors: anesi l. J Child Neurol. 2008 Aug;23(8):912-5. doi: 10.1177/0883073808316367. Epub 2008 May 16. J Child Neurol. 2008. PMID: 18487518

3

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.

Anesi L, de Gemmis P, Pandolfo M, Hladnik U. Anesi L, et al. J Mol Neurosci. 2011 Mar;43(3):346-9. doi: 10.1007/s12031-010-9448-4. Epub 2010 Sep 18. J Mol Neurosci. 2011. PMID: 20852969

4

Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.

Anesi L, de Gemmis P, Galla D, Hladnik U. Anesi L, et al. Nephrol Dial Transplant. 2012 Oct;27(10):3705-12. doi: 10.1093/ndt/gfs359. Epub 2012 Aug 9. Nephrol Dial Transplant. 2012. PMID: 22879391 Review.

5

An Italian cohort study identifies four new pathologic mutations in the ARSA gene.

Galla D, de Gemmis P, Anesi L, Berto S, Dolcetta D, Hladnik U. Galla D, et al. Among authors: anesi l. J Mol Neurosci. 2013 Jun;50(2):284-90. doi: 10.1007/s12031-013-0006-8. Epub 2013 Apr 5. J Mol Neurosci. 2013. PMID: 23559313

6

Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.

de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan WL, Hladnik U. de Gemmis P, et al. Among authors: anesi l. Mutat Res. 2010 Oct 13;692(1-2):1-5. doi: 10.1016/j.mrfmmm.2010.07.003. Epub 2010 Jul 16. Mutat Res. 2010. PMID: 20638392

7

Nuclear GSK-3β segregation in desmoid-type fibromatosis.

Meneghello C, Ousghir B, Rastrelli M, Anesi L, Sommariva A, Montesco MC, Rossi CR, Hladnik U, Segat D. Meneghello C, et al. Among authors: anesi l. Histopathology. 2013 Jun;62(7):1098-108. doi: 10.1111/his.12133. Epub 2013 Apr 24. Histopathology. 2013. PMID: 23614534

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

7 results

Search Page

Filters