Reviews

	Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans K Hemminki and C Eng J Med Genet 2004; 41: 801-807. doi:10.1136/jmg.2004.022731 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	TLR4 and TNF- polymorphisms are associated with an increased risk for severe sepsis following burn injury R C Barber, C C Aragaki, F A Rivera-Chavez, G F Purdue, J L Hunt, and J W Horton J Med Genet 2004; 41: 808-813. doi:10.1136/jmg.2004.021600 [Abstract] [Full text] [PDF] [Request Permissions]
	Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility N Machev, N Saut, G Longepied, P Terriou, A Navarro, N Levy, M Guichaoua, C Metzler-Guillemain, P Collignon, A-M Frances, J Belougne, E Clemente, J Chiaroni, C Chevillard, C Durand, A Ducourneau, N Pech, K McElreavey, M-G Mattei, and M J Mitchell J Med Genet 2004; 41: 814-825. doi:10.1136/jmg.2004.022111 [Abstract] [Full text] [PDF] [Request Permissions]
	FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients T Rijkers, G Deidda, S van Koningsbruggen, M van Geel, R J L F Lemmers, J C T van Deutekom, D Figlewicz, J E Hewitt, G W Padberg, R R Frants, and S M van der Maarel J Med Genet 2004; 41: 826-836. doi:10.1136/jmg.2004.019364 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Neurofibromatous neuropathy in neurofibromatosis 1 (NF1) R E Ferner, R A C Hughes, S M Hall, M Upadhyaya, and M R Johnson J Med Genet 2004; 41: 837-841. doi:10.1136/jmg.2004.021683 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Missense mutations of ACTA1 cause dominant congenital myopathy with cores A M Kaindl, F Rüschendorf, S Krause, H-H Goebel, K Koehler, C Becker, D Pongratz, J Müller-Höcker, P Nürnberg, G Stoltenburg-Didinger, H Lochmüller, and A Huebner J Med Genet 2004; 41: 842-848. doi:10.1136/jmg.2004.020271 [Extract] [Full text] [PDF] [Request Permissions]
	A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33–q27.3 M Aslam, M H Chahrour, A Razzaq, S Haque, K Yan, S M Leal, and W Ahmad J Med Genet 2004; 41: 849-852. doi:10.1136/jmg.2004.019729 [Extract] [Full text] [PDF] [Request Permissions]
	Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK T S Scerri, S E Fisher, C Francks, I L MacPhie, S Paracchini, A J Richardson, J F Stein, and A P Monaco J Med Genet 2004; 41: 853-857. doi:10.1136/jmg.2004.018341 [Extract] [Full text] [PDF] [Request Permissions]
	A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15 G J Breedveld, B van Wetten, G D te Raa, E Brusse, J C van Swieten, B A Oostra, and J A Maat-Kievit J Med Genet 2004; 41: 858-866. doi:10.1136/jmg.2004.019232 [Extract] [Full text] [PDF] [Request Permissions]
	The ser9gly SNP in the dopamine D3 receptor causes a shift from cAMP related to PGE2 related signal transduction mechanisms in transfected CHO cells M Hellstrand, E A Danielsen, V M Steen, A Ekman, E Eriksson, and C L Nilsson J Med Genet 2004; 41: 867-871. doi:10.1136/jmg.2004.020941 [Extract] [Full text] [PDF] [Request Permissions]
	A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21 T B Kim, B Isaacson, T A Sivakumaran, A Starr, B J B Keats, and M M Lesperance J Med Genet 2004; 41: 872-876. doi:10.1136/jmg.2004.020628 [Extract] [Full text] [PDF] [Request Permissions]
	Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion E Schollen, S Kjaergaard, T Martinsson, S Vuillaumier-Barrot, M Dunoe, L Keldermans, N Seta, and G Matthijs J Med Genet 2004; 41: 877-880. doi:10.1136/jmg.2004.022350 [Extract] [Full text] [PDF] [Request Permissions]

Retraction

	Retraction statement J Med Genet 2004; 41: 813. [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Relation of type 2 diabetes to individual admixture and candidate gene polymorphisms in the Hispanic American population of San Luis Valley, Colorado E J Parra, C J Hoggart, C Bonilla, S Dios, J M Norris, J A Marshall, R F Hamman, R E Ferrell, P M McKeigue, and M D Shriver J Med Genet 2004; 41: e116. doi:10.1136/jmg.2004.018887 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience B Keren, A Hadchouel, S Saba, Y Sznajer, D Bonneau, B Leheup, O Boute, D Gaillard, D Lacombe, V Layet, S Marlin, G Mortier, A Toutain, C Beylot, C Baumann, A Verloes, H Cavé, for the French Collaborative Noonan Study Group J Med Genet 2004; 41: e117. doi:10.1136/jmg.2004.021451 [Extract] [Full text] [PDF] [Request Permissions]
	Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis F Niel, J Martin, F Dastot-Le Moal, B Costes, B Boissier, V Delattre, M Goossens, and E Girodon J Med Genet 2004; 41: e118. doi:10.1136/jmg.2004.022400 [Extract] [Full text] [Figure 1: Alternate version] [PDF] [Request Permissions]
	No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia A Karabegovic, M Shinawi, U Cymerman, and M Letarte J Med Genet 2004; 41: e119. doi:10.1136/jmg.2004.022079 [Extract] [Full text] [PDF] [Request Permissions]
	Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers J Huang, S M Domchek, M S Brose, T R Rebbeck, K L Nathanson, and B L Weber J Med Genet 2004; 41: e120. doi:10.1136/jmg.2004.022913 [Extract] [Full text] [PDF] [Request Permissions]