Original articles

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading K J Livesey, V L C Wimhurst, K Carter, M Worwood, E Cadet, J Rochette, A G Roberts, J J Pointon, A T Merryweather-Clarke, M L Bassett, A-M Jouanolle, A Mosser, V David, J Poulton, and K J H Robson J Med Genet 2004; 41: 6-10. doi:10.1136/jmg.2003.008805 [Abstract] [Full text] [PDF] [Request Permissions]

Hypothesis

	BRCA1 functions as a breast stem cell regulator W D Foulkes J Med Genet 2004; 41: 1-5. doi:10.1136/jmg.2003.013805 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3 R L Snoeckx, H Kremer, R J H Ensink, K Flothmann, A de Brouwer, R J H Smith, C W R J Cremers, and G Van Camp J Med Genet 2004; 41: 11-13. doi:10.1136/jmg.2003.010702 [Abstract] [Full text] [PDF] [Request Permissions]
	Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome P Bénit, A Slama, F Cartault, I Giurgea, D Chretien, S Lebon, C Marsac, A Munnich, A Rötig, and P Rustin J Med Genet 2004; 41: 14-17. doi:10.1136/jmg.2003.014316 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC F Di Fiore, F Charbonnier, C Martin, S Frerot, S Olschwang, Q Wang, C Boisson, M-P Buisine, M Nilbert, A Lindblom, and T Frebourg J Med Genet 2004; 41: 18-20. doi:10.1136/jmg.2003.012062 [Extract] [Full text] [PDF] [Request Permissions]
	Common apolipoprotein E polymorphisms and risk of clinical malaria in the Gambia C Aucan, A J Walley, and A V S Hill J Med Genet 2004; 41: 21-24. doi:10.1136/jmg.2003.011981 [Extract] [Full text] [PDF] [Request Permissions]
	Refining the phenotype of common mutations in Rett syndrome L Colvin, H Leonard, N de Klerk, M Davis, L Weaving, S Williamson, and J Christodoulou J Med Genet 2004; 41: 25-30. doi:10.1136/jmg.2003.011130 [Extract] [Full text] [PDF] [Request Permissions]
	A case control and family based association study of the neuregulin1 gene and schizophrenia X Zhao, Y Shi, J Tang, R Tang, L Yu, N Gu, G Feng, S Zhu, H Liu, Y Xing, S Zhao, H Sang, Y Guan, D St Clair, and L He J Med Genet 2004; 41: 31-34. doi:10.1136/jmg.2003.014977 [Extract] [Full text] [PDF] [Request Permissions]
	Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 M Venturin, P Guarnieri, F Natacci, M Stabile, R Tenconi, M Clementi, C Hernandez, P Thompson, M Upadhyaya, L Larizza, and P Riva J Med Genet 2004; 41: 35-41. doi:10.1136/jmg.2003.014761 [Extract] [Full text] [PDF] [Request Permissions]
	A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian speaking population C Marino, R Giorda, L Vanzin, M Nobile, M L Lorusso, C Baschirotto, L Riva, M Molteni, and M Battaglia J Med Genet 2004; 41: 42-46. doi:10.1136/jmg.2003.010603 [Extract] [Full text] [PDF] [Request Permissions]
	Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy Y P Bao, S Sarkar, E Uyama, and D C Rubinsztein J Med Genet 2004; 41: 47-51. doi:10.1136/jmg.2003.014548 [Extract] [Full text] [PDF] [Request Permissions]
	Missense mutations in the ß strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia G C Jackson, F S Barker, E Jakkula, M Czarny-Ratajczak, O Mäkitie, W G Cole, M J Wright, S F Smithson, M Suri, P Rogala, G R Mortier, C Baldock, A Wallace, R Elles, L Ala-Kokko, and M D Briggs J Med Genet 2004; 41: 52-59. doi:10.1136/jmg.2003.011429 [Extract] [Full text] [PDF] [Request Permissions]
	Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly R Richardson, D Donnai, F Meire, and M J Dixon J Med Genet 2004; 41: 60-67. doi:10.1136/jmg.2003.012005 [Extract] [Full text] [PDF] [Request Permissions]
	TBX22 mutations are a frequent cause of cleft palate A C B Marçano, K Doudney, C Braybrook, R Squires, M A Patton, M M Lees, A Richieri-Costa, A C Lidral, J C Murray, G E Moore, and P Stanier J Med Genet 2004; 41: 68-74. doi:10.1136/jmg.2003.010868 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type G Nishimura, E Nakashima, A Mabuchi, K Shimamoto, T Shimamoto, Y Shimao, T Nagai, T Yamaguchi, R Kosaki, H Ohashi, Y Makita, and S Ikegawa J Med Genet 2004; 41: 75-79. doi:10.1136/jmg.2003.013722 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Cancer cytogenetics: methods and protocols L Willatt J Med Genet 2004; 41: 80. doi:10.1136/jmg.2003.013367 [Extract] [Full text] [PDF] [Request Permissions]
	Cleft lip and palate. From origin to treatment J Murray J Med Genet 2004; 41: 80. doi:10.1136/jmg.2003.013359 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Heart disease common in Leber’s optic neuropathy J Med Genet 2004; 41: 10. [Extract] [Full text] [PDF] [Request Permissions]
	Growing up abolishes a genetic protection against asthma J Med Genet 2004; 41: 17. [Extract] [Full text] [PDF] [Request Permissions]
	DQB1 alleles affect susceptibility to pulmonary TB in Europeans J Med Genet 2004; 41: 24. [Extract] [Full text] [PDF] [Request Permissions]
	BRAF mutations in cholangiocarcinoma J Med Genet 2004; 41: 34. [Extract] [Full text] [PDF] [Request Permissions]
	Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A: F Brancati, E M Valente, N P Davies, A Sarkozy, M G Sweeney, M LoMonaco, A Pizzuti, M G Hanna, B Dallapiccola J Med Genet 2004; 41: 41. [Extract] [Full text] [PDF] [Request Permissions]
	A new PHOX2B polymorphism is associated with Hirschsprung’s disease J Med Genet 2004; 41: 67. [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	CORRECTION J Med Genet 2004; 41: 20. doi:10.1136/jmg.2003.011791corr1 [Extract] [Full text] [PDF] [Request Permissions]
	CORRECTION J Med Genet 2004; 41: 46. doi:10.1136/jmg.2003.008672corr1 [Extract] [Full text] [PDF] [Request Permissions]
	CORRECTION J Med Genet 2004; 41: 51. doi:10.1136/jmg.2003.008276corr1 [Extract] [Full text] [PDF] [Request Permissions]
	CORRECTION J Med Genet 2004; 41: 74. doi:10.1136/jmg.2003.009837corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation N Jamshidi, I Macciocca, P A Dargaville, P Thomas, N Kilpatrick, R J McKinlay Gardner, and P G Farlie J Med Genet 2004; 41: e1. doi:10.1136/jmg.2003.010157 [Extract] [Full text] [PDF] [Request Permissions]
	Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE S Koskenmies, P Lahermo, H Julkunen, V Ollikainen, J Kere, and E Widén J Med Genet 2004; 41: e2-5. doi:10.1136/jmg.2003.009977 [Extract] [Full text] [PDF] [Request Permissions]
	Induction of instability of normal length trinucleotide repeats within human disease genes L Fernàndez-López, E Piñeiro, R Marcos, A Velázquez, and J Surrallés J Med Genet 2004; 41: e3. doi:10.1136/jmg.2003.010298 [Extract] [Full text] [PDF] [Request Permissions]
	Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes C Gicquel, J Weiss, J Amiel, V Gaston, Y Le Bouc, and C D Scott J Med Genet 2004; 41: e4. doi:10.1136/jmg.2003.010488 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic correlation between plasma levels of C4BP isoforms containing ß chains and susceptibility to thrombosis J Esparza-Gordillo, J M Soria, A Buil, J C Souto, L Almasy, J Blangero, S R de Córdoba, and J Fontcuberta J Med Genet 2004; 41: e5. doi:10.1136/jmg.2003.010611 [Extract] [Full text] [PDF] [Request Permissions]
	Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil D F Sena, S Finzi, K Rodgers, E Del Bono, J L Haines, and J L Wiggs J Med Genet 2004; 41: e6. doi:10.1136/jmg.2003.010777 [Extract] [Full text] [PDF] [Request Permissions]
	No evidence of an association between the T16189C mtDNA variant and late onset dementia A M Gibson, J A Edwardson, D M Turnbull, I G McKeith, C M Morris, and P F Chinnery J Med Genet 2004; 41: e7. doi:10.1136/jmg.2003.010983 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders K Ohno and A G Engel J Med Genet 2004; 41: e8. doi:10.1136/jmg.2003.012245 [Extract] [Full text] [PDF] [Request Permissions]
	A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss I Nagy, M Horváth, M Trexler, G Répássy, and L Patthy J Med Genet 2004; 41: e9. doi:10.1136/jmg.2003.012286 [Extract] [Full text] [PDF] [Request Permissions]
	Clinical and genetic characteristics of cardiac actin gene mutations in hypertrophic cardiomyopathy J Mogensen, A Perrot, P S Andersen, O Havndrup, I C Klausen, M Christiansen, P Bross, H Egeblad, H Bundgaard, K J Osterziel, G Haltern, H Lapp, P Reinecke, N Gregersen, and A D Børglum J Med Genet 2004; 41: e10. doi:10.1136/jmg.2003.010447 [Extract] [Full text] [PDF] [Request Permissions]
	Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis A Plawski, J Lubinski, T Banasiewicz, J Paszkowski, D Lipinski, A Strembalska, G Kurzawski, T Byrski, S Zajaczek, D Hodorowicz-Zaniewska, T Gach, I Brozek, D Nowakowska, E Czkwaniec, P Krokowicz, M Drews, J Zeyland, W Juzwa, and R Slomski J Med Genet 2004; 41: e11. doi:10.1136/jmg.2003.010215 [Extract] [Full text] [PDF] [Request Permissions]
	Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A K Goto, I Nishino, and Y K Hayashi J Med Genet 2004; 41: e12. doi:10.1136/jmg.2003.008755 [Extract] [Full text] [PDF] [Request Permissions]

Electronic pages

	Author Index J Med Genet 2004; 41: e36. [PDF] [Request Permissions]
	Subject Index J Med Genet 2004; 41: e37. [PDF] [Request Permissions]