Liver disease

Citations 31-36 of 36 total displayed.

Original articles
The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis

M Gabolde, D Hubert, M Guilloud-Bataille, C Lenaerts, J Feingold, C Besmond
J. Med. Genet. 2001; 38: 310-311. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

P de Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, B M Gabriel, H Journel, M Kretz, J Laurent, M Le Merrer, A Leroy, D Pedespan, P Sarda, N Villeneuve, J Schmitz, E van Schaftingen, G Matthijs, J Jaeken, C Korner, A Munnich, J M Saudubray, V Cormier-Daire
J. Med. Genet. 2001; 38: 14-19. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype

E A Jones, M Clement-Jones, D I Wilson
J. Med. Genet. 2000; 37: 658-662. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 1999; 36: 833-836. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
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
J. Med. Genet. 1999; 36: 779-781. [Abstract] [Full text] [PDF] [Request Permissions]  

Review articles
Clinical mitochondrial genetics

Patrick F Chinnery, Neil Howell, Richard M Andrews, Douglass M Turnbull
J. Med. Genet. 1999; 36: 425-436. [Abstract] [Full text] [PDF] [Request Permissions]