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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.
Journal articles
istex
hal-02375848v1
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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.
Journal articles
istex
hal-02336367v1
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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 articles
istex
hal-02336393v1
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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.
Journal articles
istex
hal-02375844v1
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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.
Journal articles
istex
hal-02336380v1
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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
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