Journal of Medical Genetics: 45 (5)

Review

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform (4 January, 2008)
E Aston, H Whitby, T Maxwell, N Glaus, B Cowley, D Lowry, X L Zhu, B Issa, S T South, A R Brothman
Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3 (4 January, 2008)
G De Mars, A Windelinckx, W Huygens, M W Peeters, G P Beunen, J Aerssens, R Vlietinck, M A I Thomis
CDKN2A mutations and melanoma risk in the Icelandic population
(4 January, 2008)
A M Goldstein, S N Stacey, J H Olafsson, G F Jonsson, A Helgason, P Sulem, B Sigurgeirsson, K R Benediktsdottir, K Thorisdottir, R Ragnarsson, J Kjartansson, J Kostic, G Masson, K Kristjansson, J R Gulcher, A Kong, U Thorsteinsdottir, T Rafnar, M A Tucker, K Stefansson
Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery (30 January, 2008)
E G Allen, J Juncos, R Letz, M Rusin, D Hamilton, G Novak, L Shubeck, S W Tinker, S L Sherman

CYLD mutations in familial skin appendage tumours
(30 January, 2008)
S Saggar, K A Chernoff, S Lodha, L Horev, S Kohl, R S Honjo, H R C Brandt, K Hartmann, J T Celebi
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family
(19 February, 2008)
Z Fan, J Li, J Du, H Zhang, Y Shen, C-Y Wang, S Wang
Comparison of X-chromosome inactivation patterns in multiple tissues from human females (21 December, 2007)
D C Bittel, M F Theodoro, N Kibiryeva, W Fischer, Z Talebizadeh, M G Butler
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome
(30 January, 2008)
B Chabrol, K Martens, S Meulemans, A Cano, J Jaeken, G Matthijs, J W M Creemers

Response to Stenson et al on the review of general mutation databases
(28 April, 2008)
R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, R G H Cotton
We need a detailed phenome in the phenomenon of genetics and congenital heart disease
(28 April, 2008)
M G Posch, F Berger, A Perrot, C Özcelik