Tosi M - Search Results

1

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.

2

Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.

Verpy E, Couture-Tosi E, Eldering E, Lopez-Trascasa M, Späth P, Meo T, Tosi M. Verpy E, et al. Among authors: tosi m. J Clin Invest. 1995 Jan;95(1):350-9. doi: 10.1172/JCI117663. J Clin Invest. 1995. PMID: 7814636 Free PMC article.

3

COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization.

Eldering E, Verpy E, Roem D, Meo T, Tosi M. Eldering E, et al. Among authors: tosi m. J Biol Chem. 1995 Feb 10;270(6):2579-87. doi: 10.1074/jbc.270.6.2579. J Biol Chem. 1995. PMID: 7852321 Free article.

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

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

6

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

7

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

8

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

9

Molecular defects of the C1-inhibitor gene in hereditary angioedema.

Tosi M, Stoppa-Lyonnet D, Carter P, Meo T. Tosi M, et al. Behring Inst Mitt. 1989 Jul;(84):173-9. Behring Inst Mitt. 1989. PMID: 2572212 Review.

10

Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M. Verpy E, et al. Among authors: tosi m. Am J Hum Genet. 1996 Aug;59(2):308-19. Am J Hum Genet. 1996. PMID: 8755917 Free PMC article.

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