S. Pagès‐Berhouet

发表

Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations

D. Papadopoulo, D. Stoppa-Lyonnet, I. Coupier, 2004, Oncogene.

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

M. Klinger, A. Aurias, D. Stoppa-Lyonnet, 2002, Journal of medical genetics.

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2004, Human mutation.

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

B. Asselain, D. Stoppa-Lyonnet, C. Houdayer, 2009, European Journal of Human Genetics.

Evaluation of in silico splice tools for decision‐making in molecular diagnosis

Dominique Stoppa-Lyonnet, Laurent Castera, D. Stoppa-Lyonnet, 2008, Human mutation.

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

A. Aurias, D. Stoppa-Lyonnet, P. Pujol, 2002, Oncogene.

Identification of a large rearrangement of theBRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

A. Aurias, D. Stoppa-Lyonnet, A. Bensimon, 2001, Journal of medical genetics.

TO JMG Bar code screening on combed DNA for large rearrangements of the BRCA 1 and BRCA 2 genes in French breast cancer families

M. Klinger, A. Aurias, A. Bensimon, 2002 .

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast‐ovarian cancer family

I. Bièche, A. Aurias, R. Lidereau, 2003, Human mutation.

A high-throughput mutation detection method based on heteroduplex analysis using graft copolymer matrixes: application to Brca1 and Brca2 analysis.

D. Stoppa-Lyonnet, J. Viovy, V. Caux‐Moncoutier, 2004, Analytical chemistry.

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene.

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2004, Nucleic acids research.

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2007, European Journal of Human Genetics.