Gastroenterology

The unfolding clinical spectrum of POLG mutations
M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, H J Smeets

Journal of Medical Genetics Nov 2009, 46 (11) 776-785; DOI: 10.1136/jmg.2009.067686
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia
Margaret J Wat, Victoria B Enciso, Wojciech Wiszniewski, Trevor Resnick, Patricia Bader, Elizabeth R Roeder, Debra Freedenberg, Chester Brown, Pawel Stankiewicz, Sau-Wai Cheung, Daryl A Scott

Journal of Medical Genetics Nov 2010, 47 (11) 777-781; DOI: 10.1136/jmg.2009.075903
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
Nobuyuki Shimozawa, Atsushi Imamura, Zhongyi Zhang, Yasuyuki Suzuki, Tadao Orii, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Ronald J A Wanders, Guy Besley, Naomi Kondo

Journal of Medical Genetics Oct 1999, 36 (10) 779-781; DOI: 10.1136/jmg.36.10.779
Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy
BONGANI M MAYOSI, SAIB S KHOGALI, BAIPING ZHANG, HUGH WATKINS

Journal of Medical Genetics Oct 1999, 36 (10) 796-797; DOI: 10.1136/jmg.36.10.796
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass

Journal of Medical Genetics Jan 2010, 47 (1) 8-21; DOI: 10.1136/jmg.2009.067249
Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6
M Huizing, B Pederson, R A Hess, A Griffin, A Helip-Wooley, W Westbroek, H Dorward, K J O’Brien, G Golas, E Tsilou, J G White, W A Gahl

Journal of Medical Genetics Dec 2009, 46 (12) 803-810; DOI: 10.1136/jmg.2008.065961
A full genome scan for gastric cancer
M Aoki, K Yamamoto, H Noshiro, K Sakai, J Yokota, T Kohno, T Tokino, S Ishida, S Ohyama, I Ninomiya, K Uesaka, M Kitajima, S Shimada, S Matsuno, M Yano, M Hiratsuka, H Sugimura, F Itoh, T Minamoto, Y Maehara, S Takenoshita, T Aikou, H Katai, K Yoshimura, T Takahashi, K Akagi, M Sairenji, Y Yamamura, T Sasazuki

Journal of Medical Genetics Jan 2005, 42 (1) 83-87; DOI: 10.1136/jmg.2004.021782
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation
A Wagner, C Tops, J T Wijnen, K Zwinderman, C van der Meer, M Kets, M F Niermeijer, J G M Klijn, A Tibben, H F A Vasen, H Meijers-Heijboer

Journal of Medical Genetics Nov 2002, 39 (11) 833-837; DOI: 10.1136/jmg.39.11.833
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations
Georgios Loudianos, Valeria Dessi, Mario Lovicu, Andrea Angius, Buket Altuntas, Raffaella Giacchino, Maria Marazzi, Matilde Marcellini, Maria Rita Sartorelli, Giacomo Carlo Sturniolo, Nurten Kocak, Aysel Yuce, Nejat Akar, Mario Pirastu, Antonio Cao

Journal of Medical Genetics Nov 1999, 36 (11) 833-836; DOI: 10.1136/jmg.36.11.833
Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations
V Annese, A Latiano, O Palmieri, H-H Li, P Forabosco, A Ferraris, A Andriulli, M Vecchi, S Ardizzone, M Cottone, B Dallapiccola, E Rappaport, P Fortina, M Devoto

Journal of Medical Genetics Nov 2003, 40 (11) 837-841; DOI: 10.1136/jmg.40.11.837

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