Journal of Medical Genetics: 46 (11)

Review

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery (7 May, 2009)
D Furniss, S-h Kan, I B Taylor, D Johnson, P S Critchley, H P Giele, A O M Wilkie
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1 (11 June, 2009)
U Hüffmeier, J Lascorz, T Becker, F Schürmeier-Horst, A Magener, A B Ekici, S Endele, C T Thiel, S Thoma-Uszynski, R Mössner, K Reich, W Kurrat, T F Wienker, H Traupe, A Reis
Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting (18 June, 2009)
D Ramsoekh, M E van Leerdam, A Wagner, E J Kuipers, E W Steyerberg

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening (29 June, 2009) Free
C Thauvin-Robinet, A Munck, F Huet, E Génin, G Bellis, E Gautier, M-P Audrézet, C Férec, G Lalau, M Des Georges, M Claustres, T Bienvenu, B Gérard, P Boisseau, F Cabet-Bey, D Feldmann, C Clavel, E Bieth, A Iron, B Simon-Bouy, C Costa, R Medina, J Leclerc, D Hubert, R Nové-Josserand, I Sermet-Gaudelus, G Rault, J Flori, S Leroy, N Wizla, G Bellon, A Haloun, S Perez-Martin, G d’Acremont, H Corvol, A Clément, E Houssin, C Binquet, C Bonithon-Kopp, C Alberti-Boulmé, M A Morris, L Faivre, M Goossens, M Roussey

Deregulation of EIF4E: a novel mechanism for autism
(25 June, 2009)
M Neves-Pereira, B Müller, D Massie, J H G Williams, P C M O’Brien, A Hughes, S-B Shen, David St Clair, Z Miedzybrodzka
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis
(18 June, 2009)
V Marcel, E I Palmero, P Falagan-Lotsch, G Martel-Planche, P Ashton-Prolla, M Olivier, R R Brentani, P Hainaut, M I Achatz
A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis
(25 June, 2009)
A Pyle, I M Ibbett, C Gordon, S M Keers, M Walker, P F Chinnery, S V Baudouin

The unfolding clinical spectrum of POLG mutations
(2 July, 2009)
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
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing (7 July, 2009)
R W Labrum, S Rajakulendran, T D Graves, L H Eunson, R Bevan, M G Sweeney, S R Hammans, N Tubridy, T Britton, L J Carr, J R Ostergaard, C R Kennedy, A Al-Memar, D M Kullmann, S Schorge, K Temple, M B Davis, M G Hanna