Clinical genetics

Citations 201-204 of 204 total displayed.

Original articles
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11

Petter Strømme, Kjetil Sundet, Cato Mørk, Jean-Jacques Cassiman, Jean-Pierre Fryns, Stephan Claes
J. Med. Genet. 1999; 36: 374-378. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

C Férec, O Raguénès, R Salomon, C Roche, J P Bernard, M Guillot, I Quéré, C Faure, B Mercier, M P Audrézet, P J Guillausseau, C Dupont, A Munnich, J D Bignon, L Le Bodic
J. Med. Genet. 1999; 36: 228-232. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

Ben C J Hamel, Pieter Wesseling, Willy O Renier, Bellinda van den Helm, Hans-Hilger Ropers, Hannie Kremer, Edwin C M Mariman
J. Med. Genet. 1999; 36: 140-143. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Homozygosity mapping to the USH2A locus in two isolated populations

T Fagerheim, P Raeymaekers, J Merren, K Mani, G K Jha, L Baumbach, V Brox, E Breines, B E Holdø, A Holdø, L Tranebjærg
J. Med. Genet. 1999; 36: 144-147. [Abstract] [Full text] [PDF] [Request Permissions]