Pancreas and biliary tract

Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers
U Potočnik, M Ravnik-Glavač, R Golouh, D Glavač

Journal of Medical Genetics May 2002, 39 (5) 340-346; DOI: 10.1136/jmg.39.5.340
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, Lap-Chee Tsui

Journal of Medical Genetics May 2007, 44 (5) 341-346; DOI: 10.1136/jmg.2006.045880
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

Journal of Medical Genetics May 2002, 39 (5) 347-351; DOI: 10.1136/jmg.39.5.347
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations
Richárd Szmola, Miklós Sahin-Tóth

Journal of Medical Genetics May 2010, 47 (5) 348-350; DOI: 10.1136/jmg.2009.072751
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, F D Porter

Journal of Medical Genetics Apr 2005, 42 (4) 350-357; DOI: 10.1136/jmg.2004.022749
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome
Caroline Gaudy-Marqueste, Patrice Roll, Vera Esteves-Vieira, Pierre-Jean Weiller, Jean Jacques Grob, Pierre Cau, Nicolas Lévy, Annachiara De Sandre-Giovannoli

Journal of Medical Genetics Jun 2010, 47 (6) 361-370; DOI: 10.1136/jmg.2009.071696
Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes
E Marquis, J J Robert, C Bouvattier, C Bellanné-Chantelot, C Junien, C Diatloff-Zito

Journal of Medical Genetics May 2002, 39 (5) 370-374; DOI: 10.1136/jmg.39.5.370
Identification of a novel PEX14 mutation in Zellweger syndrome
S J Huybrechts, P P Van Veldhoven, I Hoffman, R Zeevaert, R de Vos, P Demaerel, M Brams, J Jaeken, M Fransen, D Cassiman

Journal of Medical Genetics Jun 2008, 45 (6) 376-383; DOI: 10.1136/jmg.2007.056697
Cystic fibrosis carrier frequencies in populations of African origin
Carolyn Padoa, Andrea Goldman, Trefor Jenkins, Michele Ramsay

Journal of Medical Genetics Jan 1999, 36 (1) 41-44; DOI: 10.1136/jmg.36.1.41
Prospective risk of cancer in CDKN2A germline mutation carriers
A M Goldstein, J P Struewing, M C Fraser, M W Smith, M A Tucker

Journal of Medical Genetics Jun 2004, 41 (6) 421-424; DOI: 10.1136/jmg.2004.019349

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