To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

Review

	Recent advances in the molecular pathology, cell biology and genetics of ciliopathies M Adams, U M Smith, C V Logan, and C A Johnson J Med Genet 2008; 45: 257-267. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 4 January 2008. doi:10.1136/jmg.2007.054999

Original articles

	Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform E Aston, H Whitby, T Maxwell, N Glaus, B Cowley, D Lowry, X L Zhu, B Issa, S T South, and A R Brothman J Med Genet 2008; 45: 268-274. [Abstract] [Full text] [web only table] [PDF] [Request Permissions]   Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055319
	Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3 G De Mars, A Windelinckx, W Huygens, M W Peeters, G P Beunen, J Aerssens, R Vlietinck, and M A I Thomis J Med Genet 2008; 45: 275-283. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055277
	CDKN2A mutations and melanoma risk in the Icelandic population 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, and K Stefansson J Med Genet 2008; 45: 284-289. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055376
	Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery E G Allen, J Juncos, R Letz, M Rusin, D Hamilton, G Novak, L Shubeck, S W Tinker, and S L Sherman J Med Genet 2008; 45: 290-297. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 30 January 2008. doi:10.1136/jmg.2007.054676

Letters to JMG

	CYLD mutations in familial skin appendage tumours S Saggar, K A Chernoff, S Lodha, L Horev, S Kohl, R S Honjo, H R C Brandt, K Hartmann, and J T Celebi J Med Genet 2008; 45: 298-302. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 30 January 2008. doi:10.1136/jmg.2007.056127
	A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family Z Fan, J Li, J Du, H Zhang, Y Shen, C-Y Wang, and S Wang J Med Genet 2008; 45: 303-308. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 19 February 2008. doi:10.1136/jmg.2007.055343
	Comparison of X-chromosome inactivation patterns in multiple tissues from human females D C Bittel, M F Theodoro, N Kibiryeva, W Fischer, Z Talebizadeh, and M G Butler J Med Genet 2008; 45: 309-313. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]   Published Online First: 21 December 2007. doi:10.1136/jmg.2007.055244
	Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome B Chabrol, K Martens, S Meulemans, A Cano, J Jaeken, G Matthijs, and J W M Creemers J Med Genet 2008; 45: 314-318. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 30 January 2008. doi:10.1136/jmg.2007.055475

PostScript

	Response to Stenson et al on the review of general mutation databases R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, and R G H Cotton J Med Genet 2008; 45: 319-320. [Extract] [Full text] [PDF] [Request Permissions]
	We need a detailed phenome in the phenomenon of genetics and congenital heart disease M G Posch, F Berger, A Perrot, and C Özcelik J Med Genet 2008; 45: 320. doi:10.1136/jmg.2007.057117 [Extract] [Full text] [PDF] [Request Permissions]

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.