Mario Tosi

Mario Tosi

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Mario Tosi

Mario Tosi

Publications by authors named "Mario Tosi"

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SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Hum Mutat 2019 Sep 13. Epub 2019 Sep 13.

Centre de Référence des Angioedèmes (CREAK), Filière MaRIH, CHU Grenoble France.

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http://dx.doi.org/10.1002/humu.23917DOI Listing
September 2019

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

PLoS Genet 2016 Jan 13;12(1):e1005756. Epub 2016 Jan 13.

Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1371/journal.pgen.1005756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711968PMC
January 2016

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.

Hum Mutat 2013 Nov 18;34(11):1547-57. Epub 2013 Sep 18.

Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Italy.

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http://dx.doi.org/10.1002/humu.22428DOI Listing
November 2013

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

Methods Mol Biol 2010 ;653:249-57

Faculty of Medicine Department of Genetics and Institute for Biomedical Research, Rouen University Hospital, Inserm U614, IFRMP, University of Rouen, Northwest Canceropole, Rouen, France.

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http://dx.doi.org/10.1007/978-1-60761-759-4_15DOI Listing
December 2010

RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.

Eur J Hum Genet 2010 Jun 24;18(6):737-8. Epub 2010 Feb 24.

Inserm U614, Faculty of Medicine, Rouen Institute for Biomedical Research, Rouen, France.

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http://dx.doi.org/10.1038/ejhg.2010.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987332PMC
June 2010

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Hum Mutat 2008 Dec;29(12):1412-24

Inserm U614, Federate Institute for Multidisciplinary Research on Peptides, Faculty of Medicine, University of Rouen, Department of Genetics and Institute for Biomedical Research, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/humu.20796DOI Listing
December 2008

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Eur J Hum Genet 2007 Oct 4;15(10):1054-62. Epub 2007 Jul 4.

Department of Genetics, Rouen University Hospital and INSERM U614, Institute for Biomedical Research, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201885DOI Listing
October 2007

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

Mol Immunol 2006 Jul 10;43(14):2161-8. Epub 2006 Mar 10.

INSERM U607 and Laboratoire de Biochimie Génétique et Moléculaire, CHU de Grenoble, F-38043 Grenoble, France.

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http://linkinghub.elsevier.com/retrieve/pii/S016158900600017
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http://dx.doi.org/10.1016/j.molimm.2006.01.006DOI Listing
July 2006

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

Hum Mutat 2006 Mar;27(3):295-6

Inserm U614, IFRMP, Faculté de Médecine et Pharmacie, Rouen, France.

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http://dx.doi.org/10.1002/humu.9414DOI Listing
March 2006

Phase-transition regularities in critical constants, fusion temperatures and enthalpies of chemically similar chainlike structures.

Chemphyschem 2005 Sep;6(9):1741-5

Texas A&M University at Galveston, 5007 Avenue U, Galveston, TX 77551, USA.

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http://dx.doi.org/10.1002/cphc.200400411DOI Listing
September 2005

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

Hum Mutat 2005 Aug;26(2):135-44

Unidad de Inmunología, Hospital Universitario La Paz, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.20197DOI Listing
August 2005

Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.

Haematologica 2005 Jan;90(1):25-30

Laboratoire de Biochimie Génétique, AP-HP, et INSERM U468, Hôpital Henri Mondor 94010 Créteil, France.

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January 2005

A particle-dynamics study of dissipation in colliding clouds of ultracold fermions.

Philos Trans A Math Phys Eng Sci 2004 Aug;362(1821):1605-12

Istituto per le Applicazioni del Calcolo, CNR, Roma, Italy.

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http://dx.doi.org/10.1098/rsta.2004.1412DOI Listing
August 2004

In vivo biosynthesis of endogenous and of human C1 inhibitor in transgenic mice: tissue distribution and colocalization of their expression.

J Immunol 2002 Nov;169(10):5948-54

Institut National de la Santé et de la Recherche Médicale E0021, Département d'Immunologie, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.

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http://dx.doi.org/10.4049/jimmunol.169.10.5948DOI Listing
November 2002