Original articles

	Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome M Witsch-Baumgartner, M Gruber, H G Kraft, M Rossi, P Clayton, M Giros, D Haas, R I Kelley, M Krajewska-Walasek, and G Utermann J Med Genet 2004; 41: 577-584. doi:10.1136/jmg.2004.018085 [Abstract] [Full text] [PDF] [Request Permissions]
	Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China T-W Guo, F-C Zhang, M-S Yang, X-C Gao, L Bian, S-W Duan, Z-J Zheng, J-J Gao, H Wang, R-L Li, G-Y Feng, D St Clair, and L He J Med Genet 2004; 41: 585-590. doi:10.1136/jmg.2004.019190 [Abstract] [Full text] [Erratum] [PDF] [Request Permissions]

Short reports

	Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction S Naz, A J Griffith, S Riazuddin, L L Hampton, J F Battey, Jr, S N Khan, S Riazuddin, E R Wilcox, and T B Friedman J Med Genet 2004; 41: 591-595. doi:10.1136/jmg.2004.018523 [Abstract] [Full text] [PDF] [Request Permissions]
	A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus I Bossis, A Voutetakis, L Matyakhina, S Pack, M Abu-Asab, I Bourdeau, K J Griffin, N Courcoutsakis, S Stergiopoulos, D Batista, M Tsokos, and C A Stratakis J Med Genet 2004; 41: 596-600. doi:10.1136/jmg.2004.020214 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues K Nakabayashi, S Makino, S Minagawa, A C Smith, J S Bamforth, P Stanier, M Preece, L Parker-Katiraee, T Paton, M Oshimura, P Mill, Y Yoshikawa, C C Hui, D Monk, G E Moore, and S W Scherer J Med Genet 2004; 41: 601-608. doi:10.1136/jmg.2003.014142 [Extract] [Full text] [PDF] [Request Permissions]
	Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome M Plasilova, C Chattopadhyay, P Pal, N A Schaub, S A Buechner, Hj Mueller, P Miny, A Ghosh, and K Heinimann J Med Genet 2004; 41: 609-614. doi:10.1136/jmg.2004.019661 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss R Li, J H Greinwald, Jr, L Yang, D I Choo, R J Wenstrup, and M-X Guan J Med Genet 2004; 41: 615-620. doi:10.1136/jmg.2004.020230 [Extract] [Full text] [Erratum] [PDF] [Request Permissions]
	A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood M T Bassi, N Bresolin, A Tonelli, K Nazos, F Crippa, C Baschirotto, C Zucca, A Bersano, D Dolcetta, F M Boneschi, V Barone, and G Casari J Med Genet 2004; 41: 621-628. doi:10.1136/jmg.2003.017863 [Extract] [Full text] [Erratum] [PDF] [Request Permissions]
	Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype J Yarden, D Radojkovic, K De Boeck, M Macek, Jr, D Zemkova, V Vavrova, R Vlietinck, J-J Cassiman, and H Cuppens J Med Genet 2004; 41: 629-633. doi:10.1136/jmg.2003.017947 [Extract] [Full text] [PDF] [Request Permissions]
	A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12–8q12.1 P N Valdmanis, A A Simões Lopes, F Gros-Louis, J D Stewart, G A Rouleau, and N Dupré J Med Genet 2004; 41: 634-639. doi:10.1136/jmg.2004.019711 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Corneal dystrophies and degenerations: a molecular genetics approach G C M Black J Med Genet 2004; 41: 640. doi:10.1136/jmg.2003.017038 [Extract] [Full text] [PDF] [Request Permissions]
	Nucleotide and protein expansions and human disease D C Rubinsztein J Med Genet 2004; 41: 640. doi:10.1136/jmg.2003.017236 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Gene effects in environmentally determined subgroups J Med Genet 2004; 41: 628. [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction J Med Genet 2004; 41: 640. doi:10.1136/jmg.2002.005546corr1 [Extract] [Full text] [PDF] [Request Permissions]
	Correction J Med Genet 2004; 41: 640. doi:10.1136/jmg.2004.016089corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR C G Woods, E M Valente, J Bond, and E Roberts J Med Genet 2004; 41: e101. doi:10.1136/jmg.2003.016873 [Extract] [Full text] [PDF] [Request Permissions]
	Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum W Borozdin, M J Wright, R C M Hennekam, M C Hannibal, Y J Crow, T E Neumann, and J Kohlhase J Med Genet 2004; 41: e102. doi:10.1136/jmg.2004.019505 [Extract] [Full text] [PDF] [Request Permissions]
	Ratio of female to male offspring of women tested for BRCA1 and BRCA2 mutations K Kotar, J-S Brunet, P Møller, L Hugel, E Warner, J McLaughlin, N Wong, S A Narod, and W D Foulkes J Med Genet 2004; 41: e103. doi:10.1136/jmg.2004.019687 [Extract] [Full text] [PDF] [Request Permissions]
	The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder J S Müller, A Abicht, G Burke, J Cossins, P Richard, S K Baumeister, R Stucka, B Eymard, D Hantaï, D Beeson, and H Lochmüller J Med Genet 2004; 41: e104. doi:10.1136/jmg.2004.021139 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease S D Whatley, N G Mason, M Khan, M Zamiri, M N Badminton, W N Missaoui, T A Dailey, H A Dailey, W S Douglas, N J Wainwright, and G H Elder J Med Genet 2004; 41: e105. doi:10.1136/jmg.2003.016121 [Extract] [Full text] [PDF] [Request Permissions]
	A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance K P Burdon, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, and M M Sale J Med Genet 2004; 41: e106. doi:10.1136/jmg.2004.018333 [Extract] [Full text] [Erratum] [PDF] [Request Permissions]
	Clinical features of type 2 Stickler syndrome A V Poulson, J M M Hooymans, A J Richards, P Bearcroft, R Murthy, D M Baguley, J D Scott, and M P Snead J Med Genet 2004; 41: e107. doi:10.1136/jmg.2004.018382 [Extract] [Full text] [PDF] [Request Permissions]
	Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3AG) R Kan, S R F Twigg, J Berg, L Wang, F Jin, and A O M Wilkie J Med Genet 2004; 41: e108. doi:10.1136/jmg.2004.018507 [Extract] [Full text] [PDF] [Request Permissions]
	Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4) V Berry, Z Yang, P K F Addison, P J Francis, A Ionides, G Karan, L Jiang, W Lin, J Hu, R Yang, A Moore, K Zhang, and S S Bhattacharya J Med Genet 2004; 41: e109. doi:10.1136/jmg.2004.020289 [Extract] [Full text] [PDF] [Request Permissions]