Masson E - Search Results

1

Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.

Masson E, Le Maréchal C, Delcenserie R, Chen JM, Férec C. Masson E, et al. Hum Genet. 2008 Jun;123(5):521-9. doi: 10.1007/s00439-008-0508-6. Epub 2008 May 7. Hum Genet. 2008. PMID: 18461367

2

Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

Masson E, Le Maréchal C, Chen JM, Frebourg T, Lerebours E, Férec C. Masson E, et al. Eur J Hum Genet. 2006 Nov;14(11):1204-8. doi: 10.1038/sj.ejhg.5201684. Epub 2006 Jul 5. Eur J Hum Genet. 2006. PMID: 16823394

3

Hereditary pancreatitis caused by triplication of the trypsinogen locus.

Le Maréchal C, Masson E, Chen JM, Morel F, Ruszniewski P, Levy P, Férec C. Le Maréchal C, et al. Among authors: masson e. Nat Genet. 2006 Dec;38(12):1372-4. doi: 10.1038/ng1904. Epub 2006 Oct 29. Nat Genet. 2006. PMID: 17072318

4

Detection of two Alu insertions in the CFTR gene.

Chen JM, Masson E, Macek M Jr, Raguénès O, Piskackova T, Fercot B, Fila L, Cooper DN, Audrézet MP, Férec C. Chen JM, et al. Among authors: masson e. J Cyst Fibros. 2008 Jan;7(1):37-43. doi: 10.1016/j.jcf.2007.04.001. Epub 2007 May 24. J Cyst Fibros. 2008. PMID: 17531547 Free article.

5

Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.

Masson E, Le Maréchal C, Levy P, Chuzhanova N, Ruszniewski P, Cooper DN, Chen JM, Férec C. Masson E, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):168-75. doi: 10.1016/j.ymgme.2007.06.006. Epub 2007 Jul 27. Mol Genet Metab. 2007. PMID: 17681820

6

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

Masson E, Le Maréchal C, Chandak GR, Lamoril J, Bezieau S, Mahurkar S, Bhaskar S, Reddy DN, Chen JM, Férec C. Masson E, et al. Clin Gastroenterol Hepatol. 2008 Jan;6(1):82-8. doi: 10.1016/j.cgh.2007.10.004. Epub 2007 Dec 11. Clin Gastroenterol Hepatol. 2008. PMID: 18063422

7

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

Masson E, Chen JM, Scotet V, Le Maréchal C, Férec C. Masson E, et al. Hum Genet. 2008 Feb;123(1):83-91. doi: 10.1007/s00439-007-0459-3. Epub 2008 Jan 3. Hum Genet. 2008. PMID: 18172691

8

Absence of mesotrypsinogen gene (PRSS3) copy number variations in patients with chronic pancreatitis.

Masson E, Le Maréchal C, Chen JM, Férec C. Masson E, et al. Pancreas. 2008 Aug;37(2):227-8. doi: 10.1097/MPA.0b013e3181654b6a. Pancreas. 2008. PMID: 18665091 No abstract available.

9

Copy number variations in chronic pancreatitis.

Chen JM, Masson E, Le Maréchal C, Férec C. Chen JM, et al. Among authors: masson e. Cytogenet Genome Res. 2008;123(1-4):102-7. doi: 10.1159/000184697. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287144 Review.

10

Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

Chauvin A, Chen JM, Quemener S, Masson E, Kehrer-Sawatzki H, Ohmle B, Cooper DN, Le Maréchal C, Férec C. Chauvin A, et al. Among authors: masson e. Hum Mol Genet. 2009 Oct 1;18(19):3605-14. doi: 10.1093/hmg/ddp308. Epub 2009 Jul 7. Hum Mol Genet. 2009. PMID: 19584086

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