Tavian D - Search Results

1

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D. Redaelli C, et al. Among authors: tavian d. Orphanet J Rare Dis. 2010 Dec 1;5:33. doi: 10.1186/1750-1172-5-33. Orphanet J Rare Dis. 2010. PMID: 21122093 Free PMC article.

2

Improved cytochemical method for detecting Jordans' bodies in neutral lipid storage diseases.

Tavian D, Colombo R. Tavian D, et al. J Clin Pathol. 2007 Aug;60(8):956-8. doi: 10.1136/jcp.2006.044917. Epub 2007 Feb 9. J Clin Pathol. 2007. PMID: 17293389 Free PMC article. No abstract available.

3

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.

Ronchetti A, Prati D, Pezzotta MG, Tavian D, Colombo R, Callea F, Colli A. Ronchetti A, et al. Among authors: tavian d. J Hepatol. 2008 Sep;49(3):474-7. doi: 10.1016/j.jhep.2008.05.027. Epub 2008 Jul 9. J Hepatol. 2008. PMID: 18644654 Free article.

4

A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.

Tavian D, Degiorgio D, Roncaglia N, Vergani P, Cameroni I, Colombo R, Coviello DA. Tavian D, et al. Dig Liver Dis. 2009 Sep;41(9):671-5. doi: 10.1016/j.dld.2008.12.101. Epub 2009 Mar 3. Dig Liver Dis. 2009. PMID: 19261551

5

Fibroblast apoptosis in a patient affected by lamellar ichthyosis.

Tavian D, Colombo R, Misiti F, Ena P, Ena L, Sampaolese B, Giardina B, Clementi ME. Tavian D, et al. J Cutan Pathol. 2009 Apr;36(4):417-24. doi: 10.1111/j.1600-0560.2008.01078.x. J Cutan Pathol. 2009. PMID: 19278426

6

Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.

Colombo R, Tavian D, Baker MC, Richardson AM, Snowden JS, Neary D, Mann DM, Pickering-Brown SM. Colombo R, et al. Among authors: tavian d. Neurogenetics. 2009 Oct;10(4):313-8. doi: 10.1007/s10048-009-0189-x. Epub 2009 Apr 14. Neurogenetics. 2009. PMID: 19365643

7

Further evidence supporting the association between 5HTR2C gene and bipolar disorder.

Mazza M, Mandelli L, Martinotti G, Di Nicola M, Tavian D, Negri G, Colombo E, Missaglia S, De Ronchi D, Colombo R, Janiri L, Serretti A. Mazza M, et al. Among authors: tavian d. Psychiatry Res. 2010 Dec 30;180(2-3):151-2. doi: 10.1016/j.psychres.2009.12.006. Epub 2010 May 21. Psychiatry Res. 2010. PMID: 20494452

8

Nanotechnology advances in brain tumors: the state of the art.

Invernici G, Cristini S, Alessandri G, Navone SE, Canzi L, Tavian D, Redaelli C, Acerbi F, Parati EA. Invernici G, et al. Among authors: tavian d. Recent Pat Anticancer Drug Discov. 2011 Jan;6(1):58-69. doi: 10.2174/157489211793979990. Recent Pat Anticancer Drug Discov. 2011. PMID: 21110824 Review.

9

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.

Tavian D, Missaglia S, Redaelli C, Pennisi EM, Invernici G, Wessalowski R, Maiwald R, Arca M, Coleman RA. Tavian D, et al. Hum Mol Genet. 2012 Dec 15;21(24):5318-28. doi: 10.1093/hmg/dds388. Epub 2012 Sep 17. Hum Mol Genet. 2012. PMID: 22990388 Free PMC article.

10

Therapies currently in Phase II trials for malignant pleural mesothelioma.

Pinton G, Manente AG, Tavian D, Moro L, Mutti L. Pinton G, et al. Among authors: tavian d. Expert Opin Investig Drugs. 2013 Oct;22(10):1255-63. doi: 10.1517/13543784.2013.816281. Epub 2013 Jul 2. Expert Opin Investig Drugs. 2013. PMID: 23815672 Review.

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