Pancreas and biliary tract

Citations 1-10 of 82 total displayed.

Letter to JMG
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

C Thauvin-Robinet, A Munck, F Huet, E Génin, G Bellis, E Gautier, M-P Audrézet, C Férec, G Lalau, M Des Georges, M Claustres, T Bienvenu, B Gérard, P Boisseau, F Cabet-Bey, D Feldmann, C Clavel, E Bieth, A Iron, B Simon-Bouy, C Costa, R Medina, J Leclerc, D Hubert, R Nové-Josserand, I Sermet-Gaudelus, G Rault, J Flori, S Leroy, N Wizla, G Bellon, A Haloun, S Perez-Martin, G d’Acremont, H Corvol, A Clément, E Houssin, C Binquet, C Bonithon-Kopp, C Alberti-Boulmé, M A Morris, L Faivre, M Goossens, M Roussey, the Collaborating Working Group on R117H and E Girodon
J. Med. Genet. 2009 46: 752 -758; published online before print as 10.1136/jmg.2009.067215 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy

Y Bacq, C Gendrot, F Perrotin, L Lefrou, S Chrétien, V Vie-Buret, M-C Brechot, C R Andres
J. Med. Genet. 2009 46: 711 -715; published online before print as 10.1136/jmg.2009.067397 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
The genetic basis of congenital hyperinsulinism

C James, R R Kapoor, D Ismail, K Hussain
J. Med. Genet. 2009 46: 289 -299; published online before print as 10.1136/jmg.2008.064337 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

S R Lalani, J V Thakuria, G F Cox, X Wang, W Bi, M S Bray, C Shaw, S W Cheung, A C Chinault, B A Boggs, Z Ou, E K Brundage, J R Lupski, J Gentile, S Waisbren, A Pursley, L Ma, M Khajavi, G Zapata, R Friedman, J J Kim, J A Towbin, P Stankiewicz, S Schnittger, I Hansmann, T Ai, S Sood, X H Wehrens, J F Martin, J W Belmont, L Potocki
J. Med. Genet. 2009 46: 168 -175; published online before print as 10.1136/jmg.2008.061002 [Abstract] [Full text] [PDF] [Request Permissions] [ web only statement ] [ web only appendices ]  

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]  

Letters to JMG
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
J. Med. Genet. 2008 45: 376 -383; published online before print as 10.1136/jmg.2007.056697 [Abstract] [Full text] [PDF] [Request Permissions] [ web only tables ]  

Original articles
CDKN2A mutations and melanoma risk in the Icelandic population

A M Goldstein, S N Stacey, J H Olafsson, G F Jonsson, A Helgason, P Sulem, B Sigurgeirsson, K R Benediktsdottir, K Thorisdottir, R Ragnarsson, J Kjartansson, J Kostic, G Masson, K Kristjansson, J R Gulcher, A Kong, U Thorsteinsdottir, T Rafnar, M A Tucker, K Stefansson
J. Med. Genet. 2008 45: 284 -289; published online before print as 10.1136/jmg.2007.055376 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, B Tümmler
J. Med. Genet. 2008; 45: 47-54. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls

P F Chinnery, C Mowbray, S K Patel, J L Elson, M Sampson, G A Hitman, M I McCarthy, A T Hattersley, M Walker
J. Med. Genet. 2007; 44: e80. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2007; 44: 341-346. [Abstract] [Full text] [PDF] [Request Permissions]