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Structure: Internal structure identifier : 572160

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method

Isabelle Tournier , Grégory Raux , Frédéric Di Fiore , Isabelle Maréchal , Carole Leclerc , et al.
Human Mutation, 2004, 23 (4), pp.379-384. ⟨10.1002/humu.20008⟩
Journal articles istex hal-02375848v1

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

Myriam Vezain , Bénédicte Gérard , Séverine Drunat , Benoît Funalot , Séverine Fehrenbach , et al.
Human Mutation, 2011, 32 (9), pp.989-994. ⟨10.1002/humu.21528⟩
Journal articles istex hal-02336367v1

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

C. Bonnet , S. Krieger , M Vezain , A Rousselin , I Tournier , et al.
Journal of Medical Genetics, 2008, 45 (7), pp.438-446. ⟨10.1136/jmg.2007.056895⟩
Journal articles istex hal-02336393v1

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 , Isabelle Tournier , Dominique Stoppa-Lyonnet , et al.
Human Mutation, 2002, 20 (3), pp.218-226. ⟨10.1002/humu.10108⟩
Journal articles istex hal-02375844v1

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 , Vã©ronique Manel , et al.
Human Mutation, 2010, 31 (1), pp.E1110-E1125. ⟨10.1002/humu.21173⟩
Journal articles istex hal-02336380v1

Magnetic resonance colonography for fibrosis assessment in rats with chronic colitis.

Chloé Melchior , Emilien Loeuillard , Rachel Marion-Letellier , Lionel Nicol , Paul Mulder , et al.
PLoS ONE, 2014, 9 (7), pp.e100921
Journal articles hal-01141072v1