Grand-Masson C - Search Results

1

Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for "Lynch-like syndrome" including young patients.

Lefol C, Sohier E, Baudet C, Naïbo P, Ruano E, Grand-Masson C, Viari A, Wang Q. Lefol C, et al. Among authors: grand masson c. Eur J Hum Genet. 2021 Mar;29(3):482-488. doi: 10.1038/s41431-020-00778-6. Epub 2020 Dec 5. Eur J Hum Genet. 2021. PMID: 33279946 Free PMC article.

2

Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients.

Joly MO, Attignon V, Saurin JC, Desseigne F, Leroux D, Martin-Denavit T, Giraud S, Bonnet-Dupeyron MN, Faivre L, Auclair J, Grand-Masson C, Audoynaud C, Wang Q. Joly MO, et al. Among authors: grand masson c. Hum Mutat. 2015 Mar;36(3):292-5. doi: 10.1002/humu.22740. Hum Mutat. 2015. PMID: 25504677

3

A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.

Bouras A, Naibo P, Legrand C, Marc'hadour FL, Ruano E, Grand-Masson C, Lefol C, Wang Q. Bouras A, et al. Among authors: grand masson c. Fam Cancer. 2023 Jul;22(3):303-306. doi: 10.1007/s10689-022-00323-y. Epub 2022 Nov 29. Fam Cancer. 2023. PMID: 36445599

4

From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene.

Bouras A, Legrand C, Kourda J, Ruano E, Grand-Masson C, Lefol C, Wang Q. Bouras A, et al. Among authors: grand masson c. Mol Genet Genomic Med. 2023 Sep;11(9):e2231. doi: 10.1002/mgg3.2231. Epub 2023 Jun 23. Mol Genet Genomic Med. 2023. PMID: 37350751 Free PMC article.

5

PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.

Bouras A, Lefol C, Ruano E, Grand-Masson C, Wang Q. Bouras A, et al. Among authors: grand masson c. Genes Chromosomes Cancer. 2024 Jan;63(1):e23193. doi: 10.1002/gcc.23193. Epub 2023 Aug 3. Genes Chromosomes Cancer. 2024. PMID: 37534630

6

Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.

Bouras A, Lefol C, Ruano E, Grand-Masson C, Auclair-Perrossier J, Wang Q. Bouras A, et al. Among authors: grand masson c. Hum Mol Genet. 2024 May 4;33(10):850-859. doi: 10.1093/hmg/ddae016. Hum Mol Genet. 2024. PMID: 38311346

7

Aberrant transcription caused by an intronic non-canonical CDH1 variant.

Bouras A, Grand-Masson C, Lefol C, Ruano E, Prieur F, Wang Q. Bouras A, et al. Among authors: grand masson c. Fam Cancer. 2024 Nov;23(4):671-673. doi: 10.1007/s10689-024-00361-8. Epub 2024 Feb 4. Fam Cancer. 2024. PMID: 38310587 No abstract available.

8

A chip-based assay for botulinum neurotoxin A activity in pharmaceutical preparations.

Lévêque C, Ferracci G, Maulet Y, Grand-Masson C, Seagar M, El Far O. Lévêque C, et al. Among authors: grand masson c. Appl Microbiol Biotechnol. 2015 May;99(10):4355-60. doi: 10.1007/s00253-015-6438-z. Epub 2015 Feb 12. Appl Microbiol Biotechnol. 2015. PMID: 25672850

9

A substrate sensor chip to assay the enzymatic activity of Botulinum neurotoxin A.

Lévêque C, Ferracci G, Maulet Y, Grand-Masson C, Blanchard MP, Seagar M, El Far O. Lévêque C, et al. Among authors: grand masson c. Biosens Bioelectron. 2013 Nov 15;49:276-81. doi: 10.1016/j.bios.2013.05.032. Epub 2013 May 29. Biosens Bioelectron. 2013. PMID: 23787358

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