Neurogastroenterology

Citations 1-10 of 18 total displayed.

Original articles
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

M J Lyons, J M Graham, Jr, G Neri, A G W Hunter, R D Clark, R C Rogers, M Moscarda, L Boccuto, R Simensen, J Dodd, S Robertson, B R DuPont, M J Friez, C E Schwartz, R E Stevenson
J. Med. Genet. 2009 46: 9 -13; published online before print as 10.1136/jmg.2008.060509 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation report
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

R Mineri, M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, V Tiranti
J. Med. Genet. 2008; 45: 473-478. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

U Hehr, A Hehr, G Uyanik, E Phelan, J Winkler, W Reardon
J. Med. Genet. 2006 43: 541 -544; published online before print as 10.1136/jmg.2005.038505 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

E Schollen, C G Frank, L Keldermans, R Reyntjens, C E Grubenmann, P T Clayton, B G Winchester, J Smeitink, R A Wevers, M Aebi, T Hennet, G Matthijs
J. Med. Genet. 2004; 41: 550-556. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome

V Fremeaux-Bacchi, M-A Dragon-Durey, J Blouin, C Vigneau, D Kuypers, B Boudailliez, C Loirat, E Rondeau, W H Fridman
J. Med. Genet. 2004; 41: e84. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
A germline mutation in KIT in familial diffuse cutaneous mastocytosis

X Tang, M Boxer, A Drummond, P Ogston, M Hodgins, A D Burden
J. Med. Genet. 2004; 41: e88. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy

H Ohmori, Y Ando, Y Makita, Y Onouchi, T Nakajima, M J M Saraiva, H Terazaki, O Suhr, G Sobue, M Nakamura, M Yamaizumi, M Munar-Ques, I Inoue, M Uchino, A Hata
J. Med. Genet. 2004; 41: e51. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Mowat–Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity

P Cerruti Mainardi, G Pastore, C Zweier, A Rauch
J. Med. Genet. 2004; 41: e16. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Chinese patients with sporadic Hirschsprung’s disease are predominantly represented by a single RET haplotype

M-M Garcia-Barceló, M-H Sham, V C-H Lui, B L-S Chen, Y-Q Song, W-S Lee, S-K Yung, G Romeo, P K-H Tam
J. Med. Genet. 2003; 40: e122. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

C Zweier, I K Temple, F Beemer, E Zackai, T Lerman-Sagie, B Weschke, C E Anderson, A Rauch
J. Med. Genet. 2003; 40: 601-605. [Extract] [Full text] [PDF] [Request Permissions]