Le Marechal C - Search Results

1

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN. Padhi EM, et al. Among authors: le marechal c. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. Hum Genomics. 2021. PMID: 34256850 Free PMC article.

2

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

Le Maréchal C, Audrézet MP, Quéré I, Raguénès O, Langonné S, Férec C. Le Maréchal C, et al. Hum Genet. 2001 Apr;108(4):290-8. doi: 10.1007/s004390100490. Hum Genet. 2001. PMID: 11379874

3

Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.

Audrézet MP, Chen JM, Le Maréchal C, Ruszniewski P, Robaszkiewicz M, Raguénès O, Quéré I, Scotet V, Férec C. Audrézet MP, et al. Among authors: le marechal c. Eur J Hum Genet. 2002 Feb;10(2):100-6. doi: 10.1038/sj.ejhg.5200786. Eur J Hum Genet. 2002. PMID: 11938439

4

"Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis.

Chen JM, Le Maréchal C, Lucas D, Raguénès O, Férec C. Chen JM, et al. Among authors: le marechal c. Mol Genet Metab. 2003 May;79(1):67-70. doi: 10.1016/s1096-7192(03)00050-7. Mol Genet Metab. 2003. PMID: 12765848

5

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.

Scotet V, Barton DE, Watson JB, Audrézet MP, McDevitt T, McQuaid S, Shortt C, De Braekeleer M, Férec C, Le Maréchal C. Scotet V, et al. Among authors: le marechal c. Hum Mutat. 2003 Jul;22(1):105. doi: 10.1002/humu.9158. Hum Mutat. 2003. PMID: 12815607

6

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.

Audrézet MP, Chen JM, Raguénès O, Chuzhanova N, Giteau K, Le Maréchal C, Quéré I, Cooper DN, Férec C. Audrézet MP, et al. Among authors: le marechal c. Hum Mutat. 2004 Apr;23(4):343-57. doi: 10.1002/humu.20009. Hum Mutat. 2004. PMID: 15024729

7

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. Among authors: le marechal c. 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

8

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. Nat Genet. 2006 Dec;38(12):1372-4. doi: 10.1038/ng1904. Epub 2006 Oct 29. Nat Genet. 2006. PMID: 17072318

9

Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis.

Le Maréchal C, Guerry C, Benech C, Burlot L, Cavelier B, Porra V, Delamaire M, Férec C, Chen JM. Le Maréchal C, et al. Transfusion. 2007 May;47(5):858-63. doi: 10.1111/j.1537-2995.2005.00631.x-i1. Transfusion. 2007. PMID: 17465951

10

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

Boulling A, Le Maréchal C, Trouvé P, Raguénès O, Chen JM, Férec C. Boulling A, et al. Among authors: le marechal c. Eur J Hum Genet. 2007 Sep;15(9):936-42. doi: 10.1038/sj.ejhg.5201873. Epub 2007 Jun 13. Eur J Hum Genet. 2007. PMID: 17568390

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