Mario Tosi

Overview

Best Publications

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

  Emanuela Pappalardo;Marco Cicardi;Christiane Duponchel;Anna Carugati

  285
  Citations

• Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

  Claude Houdayer;Virginie Caux-Moncoutier;Sophie Krieger;Michel Barrois

  270
  Citations

• Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

  Federica Casilli;Zorika Christiana Di Rocco;Sophie Gad;Isabelle Tournier

  259
  Citations

• Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

  Dominique Stoppa-Lyonnet;Philip E. Carter;Tommaso Meo;Mario Tosi

  243
  Citations

• Mouse liver and salivary gland α-amylase mRNAs differ only in 5′ non-translated sequences

  Otto Hagenbüchle;Mario Tosi;Ueli Schibler;Raymonde Bovey

  214
  Citations

• Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants

  Pascaline Gaildrat;Audrey Killian;Alexandra Martins;Isabelle Tournier

  204
  Citations

• Multiple polyadenylation sites in a mouse alpha-amylase gene.

  Mario Tosi;Richard A. Young;Otto Hagenbüchle;Ueli Schibler

  199
  Citations

• Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations.

  David Tougeron;Emilie Fauquembergue;Alexandre Rouquette;Florence Le Pessot

  190
  Citations

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

  Isabelle Tournier;Myriam Vezain;Alexandra Martins;Françoise Charbonnier

  190
  Citations

• Molecular genetics of C1 inhibitor.

  Mario Tosi

  189
  Citations

• Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

  C. Houdayer;M. Gauthier-Villars;A. Laugé;S. Pagès-Berhouet

  185
  Citations

• A single base deletion in the Tfm androgen receptor gene creates a short-lived messenger RNA that directs internal translation initiation.

  Maria-Luisa Gaspar;Tommaso Meo;Pierre Bourgarel;Jean-Louis Guenet

  174
  Citations

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

  Omar Soukarieh;Pascaline Gaildrat;Mohamad Hamieh;Aurélie Drouet

  165
  Citations

• A Rare SMN2 Variant in a Previously Unrecognized Composite Splicing Regulatory Element Induces Exon 7 Inclusion and Reduces the Clinical Severity of Spinal Muscular Atrophy

  Myriam Vezain;Pascale Saugier-Veber;Elisa Goina;Renaud Touraine

  159
  Citations

• Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r

  Mario Tosi;Christiane Duponchel;Tommaso Meo;Cecile Julier

  156
  Citations

• Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements

  Philip E. Carter;Christiane Duponchel;Mario Tosi;John E. Fothergill

  153
  Citations

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

  E. Verpy;M. Biasotto;M. Brai;G. Misiano

  150
  Citations

• Altered C1 inhibitor genes in type I hereditary angioedema

  Dominique Stoppa-Lyonnet;Mario Tosi;Jérôme Laurent;Alain Sobel

  142
  Citations

• Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype

  R. Veitia;A. Ion;S. Barbaux;M. A. Jobling

  139
  Citations

• Basic and clinical immunology Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema

  Emanuela Pappalardo;Marco Cicardi;Sylvain Choquet;Angelo Agostoni

  0
  Citations