Pancreas and biliary tract

Citations 11-20 of 82 total displayed.

Electronic letters
The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

Gen Nishimura, Eiji Nakashima, Yuichiro Hirose, Trevor Cole, Phillip Cox, Daniel H Cohn, David L Rimoin, Ralph S Lachman, Yoshinari Miyamoto, Bronwyn Kerr, Sheila Unger, Hirofumi Ohashi, Andrea Superti-Furga, Shiro Ikegawa
J. Med. Genet. 2007; 44: e73. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Variants in mannose-binding lectin and tumour necrosis factor affect survival in cystic fibrosis

Kitti Buranawuti, Michael P Boyle, Suzanne Cheng, Lori L Steiner, Kathryn McDougal, M Daniele Fallin, Christian Merlo, Pamela L Zeitlin, Beryl J Rosenstein, Peter J Mogayzel, Jr, Xinjing Wang, Garry R Cutting
J. Med. Genet. 2007 44: 209 -214; published online before print as 10.1136/jmg.2006.046318 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno, Donato Calista, Lisa A Cannon Albright, Valerie Chaudru, Agnes Chompret, Francisco Cuellar, David E Elder, Paola Ghiorzo, Elizabeth M Gillanders, Nelleke A Gruis, Johan Hansson, David Hogg, Elizabeth A Holland, Peter A Kanetsky, Richard F Kefford, Maria Teresa Landi, Julie Lang, Sancy A Leachman, Rona M MacKie, Veronica Magnusson, Graham J Mann, Julia Newton Bishop, Jane M Palmer, Susana Puig, Joan A Puig-Butille, Mitchell Stark, Hensin Tsao, Margaret A Tucker, Linda Whitaker, Emanuel Yakobson, The Lund Melanoma Study Group and the Melanoma Genetics Consortium (GenoMEL)
J. Med. Genet. 2007 44: 99 -106; published online before print as 10.1136/jmg.2006.043802 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice

R Jin, C A Hodges, M L Drumm, M R Palmert
J. Med. Genet. 2006; 43: e29. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Congenital hyperinsulinism and mosaic abnormalities of the ploidy

I Giurgea, D Sanlaville, J-C Fournet, C Sempoux, C Bellanné-Chantelot, G Touati, L Hubert, M-S Groos, F Brunelle, J Rahier, J-C Henquin, M J Dunne, F Jaubert, J-J Robert, C Nihoul-Fékété, M Vekemans, C Junien, P de Lonlay
J. Med. Genet. 2006 43: 248 -254; published online before print as 10.1136/jmg.2005.034116 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Mutations in hepatocyte nuclear factor-1ß and their related phenotypes

E L Edghill, C Bingham, S Ellard, A T Hattersley
J. Med. Genet. 2006 43: 84 -90; published online before print as 10.1136/jmg.2005.032854 [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]  

Letters to JMG
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary

C J van Asperen, R M Brohet, E J Meijers-Heijboer, N Hoogerbrugge, S Verhoef, H F A Vasen, M G E M Ausems, F H Menko, E B Gomez Garcia, J G M Klijn, F B L Hogervorst, J C van Houwelingen, L J van’t Veer, M A Rookus, F E van Leeuwen on behalf of the Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON)
J. Med. Genet. 2005; 42: 711-719. [Abstract] [Full text] [PDF] [Request Permissions] [ Erratum ]  

Original articles
STRA13 expression and subcellular localisation in normal and tumour tissues: implications for use as a diagnostic and differentiation marker

A Ivanova, S-Y Liao, M I Lerman, S Ivanov, E J Stanbridge
J. Med. Genet. 2005; 42: 565-576. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

V Schumacher, T Vogel, B Leube, C Driemel, T Goecke, G Möslein, B Royer-Pokora
J. Med. Genet. 2005; 42: 428-435. [Extract] [Full text] [PDF] [Request Permissions] [ Web-only figure ]