Tosi M - Search Results

1

Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.

Duponchel C, Djenouhat K, Frémeaux-Bacchi V, Monnier N, Drouet C, Tosi M. Duponchel C, et al. Among authors: tosi m. Hum Mutat. 2006 Mar;27(3):295-6. doi: 10.1002/humu.9414. Hum Mutat. 2006. PMID: 16470590

2

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D, Gaboriaud C, Charignon D, Ghannam A, Wagenaar-Bos IGA, Roem D, López-Lera A, López-Trascasa M, Tosi M, Drouet C. Ponard D, et al. Among authors: tosi m. Hum Mutat. 2020 Jan;41(1):38-57. doi: 10.1002/humu.23917. Epub 2019 Oct 22. Hum Mutat. 2020. PMID: 31517426 Free article. Review.

3

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

Roche O, Blanch A, Duponchel C, Fontán G, Tosi M, López-Trascasa M. Roche O, et al. Among authors: tosi m. Hum Mutat. 2005 Aug;26(2):135-44. doi: 10.1002/humu.20197. Hum Mutat. 2005. PMID: 15971231

4

Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients.

Duponchel C, Di Rocco C, Cicardi M, Tosi M. Duponchel C, et al. Among authors: tosi m. Hum Mutat. 2001;17(1):61-70. doi: 10.1002/1098-1004(2001)17:1<61::AID-HUMU7>3.0.CO;2-9. Hum Mutat. 2001. PMID: 11139243

5

Characterisation of a new C1 inhibitor mutant in a patient with hepatocellular carcinoma.

Monnier N, Ponard D, Duponchel C, Csopaki F, Bouillet L, Tosi M, Lunardi J, Drouet C. Monnier N, et al. Among authors: tosi m. Mol Immunol. 2006 Jul;43(14):2161-8. doi: 10.1016/j.molimm.2006.01.006. Epub 2006 Mar 10. Mol Immunol. 2006. PMID: 16529817

6

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine MP, Killian A, Duponchel C, Rousselin A, Vaur D, Peyrat JP, Berthet P, Frébourg T, Martins A, Hardouin A, Tosi M. Théry JC, et al. Among authors: tosi m. Eur J Hum Genet. 2011 Oct;19(10):1052-8. doi: 10.1038/ejhg.2011.100. Epub 2011 Jun 15. Eur J Hum Genet. 2011. PMID: 21673748 Free PMC article.

7

Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema.

Pappalardo E, Cicardi M, Duponchel C, Carugati A, Choquet S, Agostoni A, Tosi M. Pappalardo E, et al. Among authors: tosi m. J Allergy Clin Immunol. 2000 Dec;106(6):1147-54. doi: 10.1067/mai.2000.110471. J Allergy Clin Immunol. 2000. PMID: 11112899

8

Molecular cloning, gene structure and expression profile of mouse C1 inhibitor.

Lener M, Vinci G, Duponchel C, Meo T, Tosi M. Lener M, et al. Among authors: tosi m. Eur J Biochem. 1998 May 15;254(1):117-22. doi: 10.1046/j.1432-1327.1998.2540117.x. Eur J Biochem. 1998. PMID: 9652403 Free article.

9

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.

Vezain M, Gérard B, Drunat S, Funalot B, Fehrenbach S, N'Guyen-Viet V, Vallat JM, Frébourg T, Tosi M, Martins A, Saugier-Veber P. Vezain M, et al. Among authors: tosi m. Hum Mutat. 2011 Sep;32(9):989-94. doi: 10.1002/humu.21528. Hum Mutat. 2011. PMID: 21542063

10

Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.

Di Giacomo D, Gaildrat P, Abuli A, Abdat J, Frébourg T, Tosi M, Martins A. Di Giacomo D, et al. Among authors: tosi m. Hum Mutat. 2013 Nov;34(11):1547-57. doi: 10.1002/humu.22428. Epub 2013 Sep 18. Hum Mutat. 2013. PMID: 23983145

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

642 results

Search Page