Commentaries

	Apolipoprotein E polymorphisms and risk of malaria M A Wozniak, E M Riley, and R F Itzhaki J Med Genet 2004; 41: 145-146. doi:10.1136/jmg.2003.014613 [Extract] [Full text] [PDF] [Request Permissions]

Original articles

	A genotype-phenotype correlation for GJB2 (connexin 26) deafness K Cryns, E Orzan, A Murgia, P L M Huygen, F Moreno, I del Castillo, G Parker Chamberlin, H Azaiez, S Prasad, R A Cucci, E Leonardi, R L Snoeckx, P J Govaerts, P H Van de Heyning, C M Van de Heyning, R J H Smith, and G Van Camp J Med Genet 2004; 41: 147-154. doi:10.1136/jmg.2003.013896 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications J Warner, M Epstein, A Sweet, D Singh, J Burgess, S Stranks, P Hill, D Perry-Keene, D Learoyd, B Robinson, P Birdsey, E Mackenzie, B T Teh, J B Prins, and J Cardinal J Med Genet 2004; 41: 155-160. doi:10.1136/jmg.2003.016725 [Abstract] [Full text] [PDF] [Request Permissions]
	Akt activation and localisation correlate with tumour invasion and oncogene expression in thyroid cancer V Vasko, M Saji, E Hardy, M Kruhlak, A Larin, V Savchenko, M Miyakawa, O Isozaki, H Murakami, T Tsushima, K D Burman, C De Micco, and M D Ringel J Med Genet 2004; 41: 161-170. doi:10.1136/jmg.2003.015339 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia Y Yang, Y Wang, S Li, Z Xu, H Li, L Ma, J Fan, D Bu, B Liu, Z Fan, G Wu, J Jin, B Ding, X Zhu, and Y Shen J Med Genet 2004; 41: 171-174. doi:10.1136/jmg.2003.012153 [Abstract] [Full text] [PDF] [Request Permissions]
	BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications D P Locke, R Segraves, R D Nicholls, S Schwartz, D Pinkel, D G Albertson, and E E Eichler J Med Genet 2004; 41: 175-182. doi:10.1136/jmg.2003.013813 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy C C Garcia, H J Blair, M Seager, A Coulthard, S Tennant, M Buddles, A Curtis, and J A Goodship J Med Genet 2004; 41: 183-186. doi:10.1136/jmg.2003.013680 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13 F Brancati, E M Valente, A Sarkozy, J Fehèr, M Castori, P Del Duca, R Mingarelli, A Pizzuti, and B Dallapiccola J Med Genet 2004; 41: 188-192. doi:10.1136/jmg.2003.012872 [Extract] [Full text] [PDF] [Request Permissions]
	Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3 E Nelis, J Berciano, N Verpoorten, K Coen, I Dierick, V Van Gerwen, O Combarros, P De Jonghe, and V Timmerman J Med Genet 2004; 41: 193-197. doi:10.1136/jmg.2003.012633 [Extract] [Full text] [PDF] [Request Permissions]
	The performance of CGH array for the detection of cryptic constitutional chromosome imbalances J Schoumans, B-M Anderlid, E Blennow, B T Teh, and M Nordenskjöld J Med Genet 2004; 41: 198-202. doi:10.1136/jmg.2003.013920 [Extract] [Full text] [PDF] [Request Permissions]
	Genotype and psychological phenotype in tuberous sclerosis J C Lewis, H V Thomas, K C Murphy, and J R Sampson J Med Genet 2004; 41: 203-207. doi:10.1136/jmg.2003.012757 [Extract] [Full text] [PDF] [Request Permissions]
	Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3–34.13 J Klar, T Gedde-Dahl, Jr, M Larsson, M Pigg, B Carlsson, D Tentler, A Vahlquist, and N Dahl J Med Genet 2004; 41: 208-212. doi:10.1136/jmg.2003.012567 [Extract] [Full text] [PDF] [Request Permissions]
	Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 H Thiele, C McCann, S van’t Padje, G C Schwabe, H C Hennies, G Camera, J Opitz, R Laxova, S Mundlos, and P Nürnberg J Med Genet 2004; 41: 213-218. doi:10.1136/jmg.2003.014894 [Extract] [Full text] [PDF] [Request Permissions]
	Interleukin-1 cluster is associated with genetic risk for schizophrenia and bipolar disorder S Papiol, A Rosa, B Gutiérrez, B Martín, P Salgado, R Catalán, B Arias, and L Fañanás J Med Genet 2004; 41: 219-223. doi:10.1136/jmg.2003.012914 [Extract] [Full text] [PDF] [Request Permissions]
	A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 R I Takata, C E Speck Martins, M R Passosbueno, K T Abe, A L Nishimura, M Dorvalina Da Silva, A Monteiro, Jr, M I Lima, F Kok, and M Zatz J Med Genet 2004; 41: 224-229. doi:10.1136/jmg.2003.013201 [Extract] [Full text] [PDF] [Request Permissions]
	Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype P Bauer, F Laccone, A Rolfs, U Wüllner, S Bösch, H Peters, S Liebscher, M Scheible, J T Epplen, B H F Weber, E Holinski-Feder, H Weirich-Schwaiger, D J Morris-Rosendahl, J Andrich, and O Riess J Med Genet 2004; 41: 230-232. doi:10.1136/jmg.2003.015602 [Extract] [Full text] [PDF] [Request Permissions]
	Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates D Jeganathan, R Chodhari, M Meeks, O Færoe, D Smyth, K Nielsen, I Amirav, A S Luder, H Bisgaard, R M Gardiner, E M K Chung, and H M Mitchison J Med Genet 2004; 41: 233-240. doi:10.1136/jmg.2003.014084 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Familial breast and ovarian cancer: genetics, screening, and management C M Drovdlic J Med Genet 2004; 41: 186-187. [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Investigation of crystallin genes in familial cataract, and report of two disease associated mutations 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: 187. [Extract] [Full text] [PDF] [Request Permissions]
	Aetiology of colorectal cancer and relevance of monogenic inheritance M Ponz de Leon, P Benatti, F Borghi, M Pedroni, A Scarselli, C Di Gregorio, L Losi, A Viel, M Genuardi, G Abbati, G Rossi, M Menigatti, I Lamberti, G Ponti, and L Roncucci J Med Genet 2004; 41: 192. [Extract] [Full text] [PDF] [Request Permissions]
	Standardised measures of retinal function pinpoint genotype in X linked congenital stationary night blindness J Med Genet 2004; 41: 202. [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	CORRECTION J Med Genet 2004; 41: 146. doi:10.1136/jmg.2003.014613corr1 [Extract] [Full text] [PDF] [Request Permissions]
	CORRECTION J Med Genet 2004; 41: 239-240. doi:10.1136/jmg.2003.014761corr1 [Extract] [Full text] [PDF] [Request Permissions]
	CORRECTION J Med Genet 2004; 41: 240. doi:10.1136/jmg.2003.008433corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function P J Lockhart, S Lincoln, M Hulihan, J Kachergus, K Wilkes, G Bisceglio, D C Mash, and M J Farrer J Med Genet 2004; 41: e22. doi:10.1136/jmg.2003.011106 [Extract] [Full text] [PDF] [Request Permissions]
	The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation E Sermijn, G Goelen, E Teugels, L Kaufman, M Bonduelle, B Neyns, B Poppe, A De Paepe, and J De Grève J Med Genet 2004; 41: e23. doi:10.1136/jmg.2003.011353 [Extract] [Full text] [PDF] [Request Permissions]
	Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC C Cazeneuve, S Papin, I Jéru, P Duquesnoy, and S Amselem J Med Genet 2004; 41: e24. doi:10.1136/jmg.2003.011601 [Extract] [Full text] [PDF] [Request Permissions]
	Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) J M Hertz, B Sivertsen, A Silahtaroglu, M Bugge, V Kalscheuer, A Weber, J Wirth, H-H Ropers, N Tommerup, and Z Tümer J Med Genet 2004; 41: e25. doi:10.1136/jmg.2003.011510 [Extract] [Full text] [PDF] [Request Permissions]
	Tetrasomy 21pterq21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation I Rost, H Fiegler, C Fauth, P Carr, T Bettecken, J Kraus, C Meyer, A Enders, A Wirtz, T Meitinger, N P Carter, and M R Speicher J Med Genet 2004; 41: e26. doi:10.1136/jmg.2003.011833 [Extract] [Full text] [PDF] [Request Permissions]
	CLCA1 gene polymorphisms in chronic obstructive pulmonary disease A E Hegab, T Sakamoto, Y Uchida, A Nomura, Y Ishii, Y Morishima, M Mochizuki, T Kimura, W Saitoh, H H Massoud, H M Massoud, K M Hassanein, and K Sekizawa J Med Genet 2004; 41: e27. doi:10.1136/jmg.2003.012484 [Extract] [Full text] [PDF] [Request Permissions]
	Hepatic lipase C-480T polymorphism modifies the effect of HDL cholesterol on the risk of acute myocardial infarction in men: a prospective population based study Y M Fan, J T Salonen, T A Koivu, T-P Tuomainen, K Nyyssönen, T A Lakka, R Salonen, K Seppänen, S T Nikkari, E Tahvanainen, and T Lehtimäki J Med Genet 2004; 41: e28. doi:10.1136/jmg.2003.010652 [Extract] [Full text] [PDF] [Request Permissions]
	A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia C Goizet, R Ben Yaou, L Demay, P Richard, S Bouillot, M Rouanet, E Hermosilla, G Le Masson, A Lagueny, G Bonne, and X Ferrer J Med Genet 2004; 41: e29. doi:10.1136/jmg.2003.013383 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Genetic and epigenetic profile of sporadic pheochromocytomas A Cascon, S Ruiz-Llorente, M F Fraga, R Leton, D Telleria, J Sastre, J Jose Diez, G Martinez Diaz-Guerra, J A Diaz Perez, J Benitez, M Esteller, and M Robledo J Med Genet 2004; 41: e30. doi:10.1136/jmg.2003.012658 [Extract] [Full text] [PDF] [Request Permissions]
	Extending the p16-Leiden tumour spectrum by respiratory tract tumours R A Oldenburg, W H de Vos tot Nederveen Cappel, M van Puijenbroek, A van den Ouweland, E Bakker, G Griffioen, P Devilee, C J Cornelisse, H Meijers-Heijboer, H F A Vasen, and H Morreau J Med Genet 2004; 41: e31. doi:10.1136/jmg.2003.012336 [Extract] [Full text] [PDF] [Request Permissions]
	Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP) A Villablanca, A Calender, L Forsberg, A Höög, J-D Cheng, D Petillo, C Bauters, K Kahnoski, T Ebeling, P Salmela, A-L Richardson, L Delbridge, A Meyrier, C Proye, J D Carpten, B T Teh, B G Robinson, and C Larsson J Med Genet 2004; 41: e32. doi:10.1136/jmg.2003.012369 [Extract] [Full text] [PDF] [Request Permissions]
	RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene S Shepherd, F Ellis, J Halsall, P Hopkins, and R Robinson J Med Genet 2004; 41: e33. doi:10.1136/jmg.2003.014274 [Extract] [Full text] [PDF] [Request Permissions]
	A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability O Caluseriu, C Di Gregorio, E Lucci-Cordisco, M Santarosa, J Trojan, A Brieger, P Benatti, M Pedroni, T Colibazzi, A Bellacosa, G Neri, M Ponz de Leon, A Viel, and M Genuardi J Med Genet 2004; 41: e34. doi:10.1136/jmg.2003.013714 [Extract] [Full text] [PDF] [Request Permissions]
	Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction M C Richards, S E Heron, H E Spendlove, I E Scheffer, B Grinton, S F Berkovic, J C Mulley, and A Davy J Med Genet 2004; 41: e35. doi:10.1136/jmg.2003.013938 [Extract] [Full text] [PDF] [Request Permissions]