Severini GM - Search Results

1

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

De Pieri C, Vuch J, De Martino E, Bianco AM, Ronfani L, Athanasakis E, Bortot B, Crovella S, Taddio A, Severini GM, Tommasini A. De Pieri C, et al. Among authors: severini gm. Pediatr Rheumatol Online J. 2015 Apr 10;13:11. doi: 10.1186/s12969-015-0006-z. eCollection 2015. Pediatr Rheumatol Online J. 2015. PMID: 25866490 Free PMC article.

2

Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs).

Biffi S, Tamaro G, Bortot B, Zamberlan S, Severini GM, Carrozzi M. Biffi S, et al. Among authors: severini gm. Clin Biochem. 2007 Dec;40(18):1431-4. doi: 10.1016/j.clinbiochem.2007.08.015. Epub 2007 Sep 6. Clin Biochem. 2007. PMID: 17920054

3

Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.

Bortot B, Barbi E, Biffi S, Lunazzi G, Bussani R, Burlina A, Norbedo S, Ventura A, Carrozzi M, Severini GM. Bortot B, et al. Among authors: severini gm. Dig Liver Dis. 2009 Jul;41(7):494-9. doi: 10.1016/j.dld.2008.11.013. Epub 2009 Feb 4. Dig Liver Dis. 2009. PMID: 19195941

4

Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.

Bortot B, Barbi E, Biffi S, Angelini C, Faleschini E, Severini GM, Carrozzi M. Bortot B, et al. Among authors: severini gm. Mitochondrion. 2009 Apr;9(2):123-9. doi: 10.1016/j.mito.2009.01.006. Epub 2009 Jan 21. Mitochondrion. 2009. PMID: 19460300

5

Quantification of heteroplasmic mitochondrial DNA mutations for DNA samples in the low picogram range by nested real-time ARMS-qPCR.

Biffi S, Bortot B, Carrozzi M, Severini GM. Biffi S, et al. Among authors: severini gm. Diagn Mol Pathol. 2011 Jun;20(2):117-22. doi: 10.1097/PDM.0b013e3181efe2c6. Diagn Mol Pathol. 2011. PMID: 21532488

6

High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy.

Bortot B, Athanasakis E, Brun F, Rizzotti D, Mestroni L, Sinagra G, Severini GM. Bortot B, et al. Among authors: severini gm. Diagn Mol Pathol. 2011 Sep;20(3):175-9. doi: 10.1097/PDM.0b013e31820b34fb. Diagn Mol Pathol. 2011. PMID: 21817903

7

Clinical genetic testing of periodic fever syndromes.

Marcuzzi A, Piscianz E, Kleiner G, Tommasini A, Severini GM, Monasta L, Crovella S. Marcuzzi A, et al. Among authors: severini gm. Biomed Res Int. 2013;2013:501305. doi: 10.1155/2013/501305. Epub 2013 Jan 1. Biomed Res Int. 2013. PMID: 23484126 Free PMC article. Review.

8

PMM2-CDG: phenotype and genotype in four affected family members.

Bortot B, Cosentini D, Faletra F, Biffi S, De Martino E, Carrozzi M, Severini GM. Bortot B, et al. Among authors: severini gm. Gene. 2013 Dec 1;531(2):506-9. doi: 10.1016/j.gene.2013.07.083. Epub 2013 Aug 26. Gene. 2013. PMID: 23988505

9

Detection of PLGA-based nanoparticles at a single-cell level by synchrotron radiation FTIR spectromicroscopy and correlation with X-ray fluorescence microscopy.

Pascolo L, Bortot B, Benseny-Cases N, Gianoncelli A, Tosi G, Ruozi B, Rizzardi C, De Martino E, Vandelli MA, Severini GM. Pascolo L, et al. Among authors: severini gm. Int J Nanomedicine. 2014 Jun 7;9:2791-801. doi: 10.2147/IJN.S58685. eCollection 2014. Int J Nanomedicine. 2014. PMID: 24944512 Free PMC article.

10

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls.

De Pieri C, Vuch J, Athanasakis E, Severini GM, Crovella S, Bianco AM, Tommasini A. De Pieri C, et al. Among authors: severini gm. Clin Exp Rheumatol. 2014 Nov-Dec;32(6):993-4. Epub 2014 Oct 20. Clin Exp Rheumatol. 2014. PMID: 25327218 No abstract available.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

57 results

Search Page