Pancreatitis

Citations 1-10 of 11 total displayed.

Original articles
A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site

P Felderbauer, J Schnekenburger, R Lebert, K Bulut, M Parry, T Meister, V Schick, F Schmitz, W Domschke, W E Schmidt
J. Med. Genet. 2008 45: 507 -512; published online before print as 10.1136/jmg.2007.056481 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases

M Verlaan, J P H Drenth, K Truninger, M Koudova, H-U Schulz, M Bargetzi, B Künzli, H Friess, M Cerny, A Kage, O Landt, R H M te Morsche, J Rosendahl, W Luck, R Nickel, J Halangk, M Becker, M Macek, Jr, J B M J Jansen, H Witt
J. Med. Genet. 2005; 42: e62. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

F Niel, J Martin, F Dastot-Le Moal, B Costes, B Boissier, V Delattre, M Goossens, E Girodon
J. Med. Genet. 2004; 41: e118. [Extract] [Full text] [PDF] [Request Permissions] [ Figure 1: Alternate version ]  

Electronic letters
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis

K Fujiki, H Ishiguro, S BH Ko, N Mizuno, Y Suzuki, T Takemura, A Yamamoto, T Yoshikawa, M Kitagawa, T Hayakawa, Y Sakai, T Takayama, M Saito, T Kondo, S Naruse
J. Med. Genet. 2004; 41: e55. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis

V N Ninis, M O Kylynç, M Kandemir, E Daðly, A Tolun
J. Med. Genet. 2003; 40: 530-535. [Extract] [Full text] [PDF] [Request Permissions] [ Publisher's Correction ]  

Electronic letters
SPINK1 mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations

F U Weiss, P Simon, H Witt, J Mayerle, V Hlouschek, K P Zimmer, J Schnekenburger, W Domschke, J P Neoptolemos, M M Lerch
J. Med. Genet. 2003; 40: e40. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy

C Gendrot, Y Bacq, M-C Brechot, J Lansac, C Andres
J. Med. Genet. 2003; 40: e32. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis

G R Chandak, M M Idris, D N Reddy, S Bhaskar, P V J Sriram, L Singh
J. Med. Genet. 2002; 39: 347-351. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

JIAN-MIN CHEN, ODILE RAGUENES, CLAUDE FEREC, PIERRE H DEPREZ, CHRISTINE VERELLEN-DUMOULIN
J. Med. Genet. 2000; 37: e36. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia

MARIS TEDER, TIINA KLAASSEN, ENELI OITMAA, KRISTA KAASIK, ANDRES METSPALU
J. Med. Genet. 2000; 37: e16. [Extract] [Full text] [PDF] [Request Permissions]