Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Denis Boidin"'
Autor:
Marie‐Hélène Rebergue, Denis Boidin, Francis Vasseur, Sylvie Manouvrier, Marie-Pierre Buisine, Catherine Vermaut, Agnès Wacrenier, Stéphane Cattan, Julie Leclerc, Sophie Lejeune, Tonio Lovecchio
Publikováno v:
Genes, Chromosomes and Cancer. 59:111-118
Interpretation of missense variants remains a major challenge for genetic diagnosis, even in well-known genes such as the DNA-mismatch repair (MMR) genes involved in Lynch syndrome. We report the characterization of a variant in MSH2: c.1022T>C, whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c097edfff7a9fdab7b97f640d95ffd2d
https://doi.org/10.1002/gcc.22804
https://doi.org/10.1002/gcc.22804
Autor:
Cedrick Lefol, Gaëlle Bougeard, Julie Leclerc, Thierry Frebourg, Marie Pierre Buisine, Sylviane Olschwang, Kévin Cassinari, Qing Wang, Stéphanie Baert-Desurmont, Pierre Naïbo, Denis Boidin, Stéphanie Vasseur
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩
Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩
Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩
BackgroundHeterozygous germline PMS2 variants are responsible for about 5% of Lynch syndrome (LS) but their prevalence is most likely underestimated because of complicated routine screening caused by highly homologous pseudogenes. Consequently, there
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc56912f0a897e0808a1fb43ab4b7e9
https://hal-normandie-univ.archives-ouvertes.fr/hal-02460716
https://hal-normandie-univ.archives-ouvertes.fr/hal-02460716
Autor:
Qing, Wang, Julie, Leclerc, Gaëlle, Bougeard, Sylviane, Olschwang, Stéphanie, Vasseur, Kévin, Cassinari, Denis, Boidin, Cédrick, Lefol, Pierre, Naïbo, Thierry, Frébourg, Marie Pierre, Buisine, Stéphanie, Baert-Desurmont
Publikováno v:
Journal of medical genetics. 57(7)
Heterozygous germlineWe report 200Genomic rearrangements account for 18% of alterations. The c.137GT variant was observed in 18% of the patients, but a founder effect could not be clearly identified by haplotype analysis. Among class-4/5 variant carr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::566aedb4ae4b6448e121b1e87a2f85b8
https://pubmed.ncbi.nlm.nih.gov/31992580
https://pubmed.ncbi.nlm.nih.gov/31992580
Autor:
Denis Boidin, Michèle Mathieu, Michel Crépin, Fabienne Escande, Marie-Pierre Buisine, Marie-Claire Dieu, Gilles Morin, Sylvie Manouvrier, Sophie Lejeune, Nicole Porchet
Publikováno v:
Human mutation. 33(1)
Constitutional epimutations of DNA mismatch repair (MMR) genes have been recently reported as a possible cause of Lynch syndrome. However, little is known about their prevalence, the risk of transmission through the germline and the risk for carriers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c46f1cfa7af5528710540166e4de77f
https://pubmed.ncbi.nlm.nih.gov/21953887
https://pubmed.ncbi.nlm.nih.gov/21953887