Journal of Medical Genetics: 43 (9)

Electronic letters

Novel NHLRC1 mutations and genotype–phenotype correlations in patients with Lafora’s progressive myoclonic epilepsy (1 September, 2006)
S Singh, I Sethi, S Francheschetti, C Riggio, G Avanzini, K Yamakawa, A V Delgado-Escueta, S Ganesh
The contribution of germline rearrangements to the spectrum of BRCA2 mutations (1 September, 2006)
F Casilli, I Tournier, O M Sinilnikova, F Coulet, F Soubrier, C Houdayer, A Hardouin, P Berthet, H Sobol, V Bourdon, D Muller, J P Fricker, C Capoulade-Metay, A Chompret, C Nogues, S Mazoyer, P Chappuis, P Maillet, C Philippe, A Lortholary, P Gesta, S Bézieau, C Toulas, L Gladieff, C M Maugard, D M Provencher, C Dugast, C Delvincourt, T D Nguyen, L Faivre, V Bonadona, T Frébourg, R Lidereau, D Stoppa-Lyonnet, M Tosi

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations (11 May, 2006)
N L Prigoda, S Savas, S A Abdalla, B Piovesan, D Rushlow, K Vandezande, E Zhang, H Ozcelik, B L Gallie, M Letarte
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients (12 April, 2006)
H L Archer, J Evans, S Edwards, J Colley, R Newbury-Ecob, F O’Callaghan, M Huyton, M O’Regan, J Tolmie, J Sampson, A Clarke, J Osborne
High incidence of SHOX anomalies in individuals with short stature (5 April, 2006)
C Huber, M Rosilio, A Munnich, V Cormier-Daire
Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation (12 April, 2006)
T Li, L A Lange, X Li, L Susswein, B Bryant, R Malone, E M Lange, T-Y Huang, D W Stafford, J P Evans
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course (29 March, 2006)
S Schön, V Schulz, C Prante, D Hendig, C Szliska, J Kuhn, K Kleesiek, C Götting