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

Emanuela Pappalardo, Marco Cicardi, Christiane Duponchel, +4

Journal of Allergy and Clinical Immunology

C1inhibitor GeneExon DeletionsGeneticsPathologyVascular Biology +2

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, +25

Human Mutation

Tissue-specific expression of mouse α-amylase genes

Ueli Schibler, Mario Tosi, Anne-Cécile Pittet, +2

Journal of Molecular Biology

Protein ExpressionCellular EnzymologyNatural SciencesMouse α-Amylase GenesCellular Biochemistry +3

Multiple polyadenylation sites in a mouse α-amylase gene

Mario Tosi, Richard A. Young, Otto Hagenbüchle, +1

Nucleic Acids Research

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

Dominique Stoppa‐Lyonnet, P E Carter, T Meo, +1

Proceedings of the National Academy of Sciences

Intragenic Alu RepeatsGeneticsMolecular BiologyPathologyMolecular Genetics +16

Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

Federica Casilli, Zorika Christiana Di Rocco, Sophie Gad, +4

Human Mutation

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

Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, +5

PLoS Genetics

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

Otto Hagenbüchle, Mario Tosi, Ueli Schibler, +3

Nature

Systems BiologyMouse LiverNon-translated SequencesGeneticsMolecular Genetics +3

A large fraction of unclassified variants of the mismatch repair genes<i>MLH1</i>and<i>MSH2</i>is associated with splicing defects

Isabelle Tournier, Myriam Vézain, Alexandra Martins, +9

Human Mutation

GeneticsRna SplicingMolecular BiologyPathologyMolecular Genetics +17

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

Marı́a-Luisa Gaspar, T Meo, P Bourgarel, +2

Proceedings of the National Academy of Sciences

Tfm GeneEngineeringGeneticsMolecular BiologyReproductive Biology +19