Liver disease

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
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
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
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib
S Vuillaumier-Barrot, C Le Bizec, P de Lonlay, A Barnier, G Mitchell, V Pelletier, C Prevost, J M Saudubray, G Durand, N Seta

Journal of Medical Genetics Nov 2002, 39 (11) 849-851; DOI: 10.1136/jmg.39.11.849
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion
E Schollen, S Kjaergaard, T Martinsson, S Vuillaumier-Barrot, M Dunoe, L Keldermans, N Seta, G Matthijs

Journal of Medical Genetics Nov 2004, 41 (11) 877-880; DOI: 10.1136/jmg.2004.022350
Consequences of JAG1 mutations
B M Kamath, L Bason, D A Piccoli, I D Krantz, N B Spinner

Journal of Medical Genetics Dec 2003, 40 (12) 891-895; DOI: 10.1136/jmg.40.12.891
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
Geneviève Baujat, Céline Huber, Joyce El Hokayem, Roseline Caumes, Claire Do Ngoc Thanh, Albert David, Anne-Lise Delezoide, Anne Dieux-Coeslier, Brigitte Estournet, Christine Francannet, Honorine Kayirangwa, Florence Lacaille, Muriel Le Bourgeois, Jelena Martinovic, Rémi Salomon, Sabine Sigaudy, Valérie Malan, Arnold Munnich, Martine Le Merrer, Kim Hanh Le Quan Sang, Valérie Cormier-Daire

Journal of Medical Genetics Feb 2013, 50 (2) 91-98; DOI: 10.1136/jmedgenet-2012-101282
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
S D Whatley, N G Mason, M Khan, M Zamiri, M N Badminton, W N Missaoui, T A Dailey, H A Dailey, W S Douglas, N J Wainwright, G H Elder

Journal of Medical Genetics Aug 2004, 41 (8) e105; DOI: 10.1136/jmg.2003.016121
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
C Gendrot, Y Bacq, M-C Brechot, J Lansac, C Andres

Journal of Medical Genetics Mar 2003, 40 (3) e32; DOI: 10.1136/jmg.40.3.e32
Divergent phenotypes in Gaucher disease implicate the role of modifiers
O Goker-Alpan, K S Hruska, E Orvisky, P S Kishnani, B K Stubblefield, R Schiffmann, E Sidransky

Journal of Medical Genetics Jun 2005, 42 (6) e37; DOI: 10.1136/jmg.2004.028019

Main menu

Liver disease

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Liver disease

Pages