Liver disease

Citations 1-10 of 36 total displayed.

Mutation reports
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
J. Med. Genet. 2009 46: 776 -785; published online before print as 10.1136/jmg.2009.067686 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

E A Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, E L Wise, M T F Wolf, B Utsch, C Becker, G Nürnberg, P Nürnberg, A Nayir, S Saunier, C Antignac, F Hildebrandt
J. Med. Genet. 2009 46: 663 -670; published online before print as 10.1136/jmg.2009.066613 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

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]  

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 ]  

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 ]  

Review
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

P de Bie, P Muller, C Wijmenga, L W J Klomp
J. Med. Genet. 2007 44: 673 -688; published online before print as 10.1136/jmg.2007.052746 [Abstract] [Full text] [PDF] [Request Permissions]  

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]  

Letters to JMG
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia

Enza Di Leo, Lucia Magnolo, Sandra Lancellotti, Lory Crocè, Luca Visintin, Claudio Tiribelli, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi
J. Med. Genet. 2007 44: 219 -224; published online before print as 10.1136/jmg.2006.046359 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection

R Dawes, B Hennig, W Irving, S Petrova, S Boxall, V Ward, D Wallace, D C Macallan, M Thursz, A Hill, W Bodmer, P C L Beverley, E Z Tchilian
J. Med. Genet. 2006 43: 678 -684; published online before print as 10.1136/jmg.2005.040485 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

M A Parisi, D Doherty, M L Eckert, D W W Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan, E Bakhsh, O S Indridason, W B Dobyns, C L Bennett, P F Chance, I A Glass
J. Med. Genet. 2006 43: 334 -339; published online before print as 10.1136/jmg.2005.036608 [Abstract] [Full text] [PDF] [Request Permissions]