Chen JM - Search Results

1

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: chen jm. Hum Mutat. 2004 Apr;23(4):343-57. doi: 10.1002/humu.20009. Hum Mutat. 2004. PMID: 15024729

2

Exclusion of anionic trypsinogen and mesotrypsinogen involvement in hereditary pancreatitis without cationic trypsinogen gene mutations.

Chen JM, Audrezet MP, Mercier B, Quere I, Ferec C. Chen JM, et al. Scand J Gastroenterol. 1999 Aug;34(8):831-2. doi: 10.1080/003655299750025796. Scand J Gastroenterol. 1999. PMID: 10499487 No abstract available.

3

The A16V signal peptide cleavage site mutation in the cationic trypsinogen gene and chronic pancreatitis.

Chen JM, Raguenes O, Ferec C, Deprez PH, Verellen-Dumoulin C, Andriulli A. Chen JM, et al. Gastroenterology. 1999 Dec;117(6):1508-9. doi: 10.1016/s0016-5085(99)70313-6. Gastroenterology. 1999. PMID: 10610343 No abstract available.

4

Strong evidence that the N21I substitution in the cationic trypsinogen gene causes disease in hereditary pancreatitis.

Chen JM, Mercier B, Ferec C. Chen JM, et al. Gut. 1999 Dec;45(6):916. doi: 10.1136/gut.45.6.916. Gut. 1999. PMID: 10644199 Free PMC article. No abstract available.

5

Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

Chen JM, Mercier B, Audrezet MP, Ferec C. Chen JM, et al. J Med Genet. 2000 Jan;37(1):67-9. doi: 10.1136/jmg.37.1.67. J Med Genet. 2000. PMID: 10691414 Free PMC article. No abstract available.

6

Genes, cloned cDNAs, and proteins of human trypsinogens and pancreatitis-associated cationic trypsinogen mutations.

Chen JM, Ferec C. Chen JM, et al. Pancreas. 2000 Jul;21(1):57-62. doi: 10.1097/00006676-200007000-00052. Pancreas. 2000. PMID: 10881933

7

Molecular basis of hereditary pancreatitis.

Chen JM, Ferec C. Chen JM, et al. Eur J Hum Genet. 2000 Jul;8(7):473-9. doi: 10.1038/sj.ejhg.5200492. Eur J Hum Genet. 2000. PMID: 10909845 Review.

8

Wanted: a consensus nomenclature for cationic trypsinogen mutations.

Chen JM, Ferec C. Chen JM, et al. Gastroenterology. 2000 Jul;119(1):277. doi: 10.1016/s0016-5085(00)70073-4. Gastroenterology. 2000. PMID: 10928834 No abstract available.

9

Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene.

Chen JM, Ferec C. Chen JM, et al. Hum Genet. 2000 Jan;106(1):125-6. doi: 10.1007/s004390051019. Hum Genet. 2000. PMID: 10982192

10

Definition of a "functional R domain" of the cystic fibrosis transmembrane conductance regulator.

Chen JM, Scotet V, Ferec C. Chen JM, et al. Mol Genet Metab. 2000 Sep-Oct;71(1-2):245-9. doi: 10.1006/mgme.2000.3041. Mol Genet Metab. 2000. PMID: 11001817 Review.

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