Neurogastroenterology

Citations 11-18 of 18 total displayed.

Letters to JMG
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
J. Med. Genet. 2002; 39: 849-851. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
A rare case of a de novo dup(19q) associated with a mild phenotype

M Qorri, P Oei, H Dockery, J McGaughran
J. Med. Genet. 2002; 39: e61. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Relationship between genotype and phenotype for the CFTR gene W846X mutation

I Duguépéroux, G Bellis, C Férec, D Gillet, V Scotet, M De Braekeleer
J. Med. Genet. 2002; 39: e32. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?

R M W Hofstra, P Elfferich, J Osinga, E Verlind, E Fransen, J López Pisón, C E M de Die-Smulders, I Stolte-Dijkstra, C H C M Buys
J. Med. Genet. 2002; 39: e11. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome

Delphine Héron, Christian Bonnard, Claude Moraine, Annick Toutain
J. Med. Genet. 2001; 38: e27. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

MICHEALA A ALDRED, R JANE BAGSHAW, KAY MACDERMOT, DAVID CASSON, SIMON H MURCH, J A WALKER-SMITH, RICHARD C TREMBATH
J. Med. Genet. 2000; 37: e35. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation

MARCELLA COSTA, MONICA FAVA, MARCO SERI, ROBERTO CUSANO, MONICA SANCANDI, PAOLA FORABOSCO, MARGHERITA LERONE, GIUSEPPE MARTUCCIELLO, GIOVANNI ROMEO, ISABELLA CECCHERINI
J. Med. Genet. 2000; 37: e9. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
Cystic fibrosis carrier frequencies in populations of African origin

Carolyn Padoa, Andrea Goldman, Trefor Jenkins, Michele Ramsay
J. Med. Genet. 1999; 36: 41-44. [Abstract] [Full text] [PDF] [Request Permissions]