Commentaries

	Cardiovascular genetics: are we there yet? A C Sturm J Med Genet 2004; 41: 321-323. doi:10.1136/jmg.2003.017475 [Extract] [Full text] [PDF] [Request Permissions]
	Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome R Pilarski and C Eng J Med Genet 2004; 41: 323-326. doi:10.1136/jmg.2004.018036 [Extract] [Full text] [PDF] [Request Permissions]

Original articles

	Genotype–phenotype correlations in Peutz-Jeghers syndrome C I Amos, M B Keitheri-Cheteri, M Sabripour, C Wei, T J McGarrity, M F Seldin, L Nations, P M Lynch, H H Fidder, E Friedman, and M L Frazier J Med Genet 2004; 41: 327-333. doi:10.1136/jmg.2003.010900 [Abstract] [Full text] [PDF] [Request Permissions]
	Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes J J McCarthy, A Parker, R Salem, D J Moliterno, Q Wang, E F Plow, S Rao, G Shen, W J Rogers, L K Newby, R Cannata, K Glatt, and E J Topol J Med Genet 2004; 41: 334-341. doi:10.1136/jmg.2003.016584 [Abstract] [Full text] [Web-only Table] [PDF] [Request Permissions]
	Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome A Limongelli, J Schaefer, S Jackson, F Invernizzi, Y Kirino, T Suzuki, H Reichmann, and M Zeviani J Med Genet 2004; 41: 342-349. doi:10.1136/jmg.2003.016048 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Functional dimorphism of two hAgRP promoter SNPs in linkage disequilibrium F Bai, T Rankinen, C Charbonneau, D D Belsham, D C Rao, C Bouchard, and G Argyropoulos J Med Genet 2004; 41: 350-353. doi:10.1136/jmg.2003.014092 [Abstract] [Full text] [PDF] [Request Permissions]
	Inhibin -subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers C A Longui, S H V Lemos-Marini, B Figueiredo, B B Mendonca, M Castro, R Liberatore, Jr, C Watanabe, C L P Lancellotti, M N Rocha, M B Melo, O Monte, L E P Calliari, G Guerra-Junior, M T M Baptista, L Sbragia-Neto, A C Latronico, A Moreira, A M D Tardelli, A Nigri, S E Taymans, and C A Stratakis J Med Genet 2004; 41: 354-359. doi:10.1136/jmg.2004.018978 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Glutathione S-transferase M1, T1 status and the risk of head and neck cancer: a meta-analysis Z Ye, H Song, and Y Guo J Med Genet 2004; 41: 360-365. doi:10.1136/jmg.2003.016246 [Extract] [Full text] [PDF] [Request Permissions]
	Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD Z U Borochowitz, D Scheffer, V Adir, N Dagoneau, A Munnich, and V Cormier-Daire J Med Genet 2004; 41: 366-372. doi:10.1136/jmg.2003.013342 [Extract] [Full text] [PDF] [Request Permissions]
	PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome I Matera, T Bachetti, F Puppo, M Di Duca, F Morandi, G M Casiraghi, M R Cilio, R Hennekam, R Hofstra, J G Schöber, R Ravazzolo, G Ottonello, and I Ceccherini J Med Genet 2004; 41: 373-380. doi:10.1136/jmg.2003.015412 [Extract] [Full text] [PDF] [Request Permissions]
	Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome L Pinson, J Augé, S Audollent, G Mattéi, H Etchevers, N Gigarel, F Razavi, D Lacombe, S Odent, M Le Merrer, J Amiel, A Munnich, G Meroni, S Lyonnet, M Vekemans, and T Attié-Bitach J Med Genet 2004; 41: 381-386. doi:10.1136/jmg.2003.014829 [Extract] [Full text] [PDF] [Request Permissions]
	Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1 N Ishihara, K Yamada, Y Yamada, K Miura, J Kato, N Kuwabara, Y Hara, Y Kobayashi, K Hoshino, Y Nomura, M Mimaki, K Ohya, M Matsushima, H Nitta, K Tanaka, M Segawa, T Ohki, T Ezoe, T Kumagai, A Onuma, T Kuroda, M Yoneda, T Yamanaka, M Saeki, M Segawa, T Saji, M Nagaya, and N Wakamatsu J Med Genet 2004; 41: 387-393. doi:10.1136/jmg.2003.016154 [Extract] [Full text] [PDF] [Request Permissions]
	Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation T Kleefstra, H G Yntema, A R Oudakker, M J G Banning, V M Kalscheuer, J Chelly, C Moraine, H-H Ropers, J-P Fryns, I M Janssen, E A Sistermans, W N Nillesen, L B A de Vries, B C J Hamel, and H van Bokhoven J Med Genet 2004; 41: 394-399. doi:10.1136/jmg.2003.016972 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Genetics of mitochondrial diseases P F Chinnery J Med Genet 2004; 41: 400. [Extract] [Full text] [PDF] [Request Permissions]
	Chromosome abnormalities and genetic counseling, 3rd edn Anne M Slavotinek J Med Genet 2004; 41: 400. [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Duodenal adenomatosis in familial adenomatous polyposis S Bülow, J Björk, I J Christensen, O Fausa, H Järvinen, F Moesgaard, and H F A Vasen J Med Genet 2004; 41: 341. [Extract] [Full text] [PDF] [Request Permissions]
	Female preclinical presenilin-1 mutation carriers unaware of their genetic status have higher levels of depression than their non-mutation carrying kin J M Ringman, C Diaz-Olavarrieta, Y Rodriguez, M Chavez, F Paz, J Murrell, M Angel Macias, M Hill, and C Kawas J Med Genet 2004; 41: 372. [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	CORRECTION J Med Genet 2004; 41: 400. doi:10.1136/jmg.2003.006247corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia I Wieland, P Muschke, S Jakubiczka, M Volleth, B Freigang, and P F Wieacker J Med Genet 2004; 41: e54. doi:10.1136/jmg.2003.010587 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis K Fujiki, H Ishiguro, S BH Ko, N Mizuno, Y Suzuki, T Takemura, A Yamamoto, T Yoshikawa, M Kitagawa, T Hayakawa, Y Sakai, T Takayama, M Saito, T Kondo, and S Naruse J Med Genet 2004; 41: e55. doi:10.1136/jmg.2003.014456 [Extract] [Full text] [PDF] [Request Permissions]
	FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly P A Gupta, D D Wallis, T O Chin, H Northrup, V T Tran-Fadulu, J A Towbin, and D M Milewicz J Med Genet 2004; 41: e56. doi:10.1136/jmg.2003.012880 [Extract] [Full text] [PDF] [Request Permissions]
	A variant form of hMTH1, a human homologue of the E coli mutT gene, correlates with somatic mutation in the p53 tumour suppressor gene in gastric cancer patients Y Kimura, S Oda, A Egashira, Y Kakeji, H Baba, Y Nakabeppu, and Y Maehara J Med Genet 2004; 41: e57. doi:10.1136/jmg.2003.013268 [Extract] [Full text] [PDF] [Request Permissions]
	Familial renal cell cancer appears to have a recessive component K Hemminki and X Li J Med Genet 2004; 41: e58. doi:10.1136/jmg.2003.014464 [Extract] [Full text] [PDF] [Request Permissions]
	Significant involvement of CCR2–64I and CXCL12–3a in the development of sporadic breast cancer A Zafiropoulos, N Crikas, A M Passam, and D A Spandidos J Med Genet 2004; 41: e59. doi:10.1136/jmg.2003.013649 [Extract] [Full text] [PDF] [Request Permissions]
	MDR1, the blood–brain barrier transporter, is associated with Parkinson’s disease in ethnic Chinese C G L Lee, K Tang, Y B Cheung, L P Wong, C Tan, H Shen, Y Zhao, R Pavanni, E J D Lee, M-C Wong, S S Chong, and E K Tan J Med Genet 2004; 41: e60. doi:10.1136/jmg.2003.013003 [Extract] [Full text] [PDF] [Request Permissions]
	Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome D Beltran-Valero de Bernabé, T Voit, C Longman, A Steinbrecher, V Straub, Y Yuva, R Herrmann, J Sperner, C Korenke, C Diesen, W B Dobyns, H G Brunner, H van Bokhoven, M Brockington, and F Muntoni J Med Genet 2004; 41: e61. doi:10.1136/jmg.2003.013870 [Extract] [Full text] [PDF] [Request Permissions]
	Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation V A Street, J C Kallman, and K L Kiemele J Med Genet 2004; 41: e62. doi:10.1136/jmg.2003.013557 [Extract] [Full text] [PDF] [Request Permissions]
	Evidence for association between single nucleotide polymorphisms in T complex protein 1 gene and schizophrenia in the Chinese Han population M S Yang, L Yu, T W Guo, S M Zhu, H J Liu, Y Y Shi, N-F Gu, G Y Feng, and L He J Med Genet 2004; 41: e63. doi:10.1136/jmg.2003.011023 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis K Mayer, M Goedbloed, K van Zijl, M Nellist, and H-D Rott J Med Genet 2004; 41: e64. doi:10.1136/jmg.2003.010835 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile? L-J C Wong, D-J Tan, R-K Bai, K-T Yeh, and J Chang J Med Genet 2004; 41: e65. doi:10.1136/jmg.2003.013532 [Extract] [Full text] [PDF] [Request Permissions]
	The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel Q Wang, S Chen, Q Chen, X Wan, J Shen, G A Hoeltge, A A Timur, M T Keating, and G E Kirsch J Med Genet 2004; 41: e66. doi:10.1136/jmg.2003.013300 [Extract] [Full text] [PDF] [Request Permissions]
	LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome K Fukuchi, T Katsuya, K Sugimoto, M Kuremura, H D Kim, L Li, and T Ogihara J Med Genet 2004; 41: e67. doi:10.1136/jmg.2003.014688 [Extract] [Full text] [PDF] [Request Permissions]
	Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome A Sarkozy, E Conti, M Cristina Digilio, B Marino, E Morini, G Pacileo, M Wilson, R Calabrò, A Pizzuti, and B Dallapiccola J Med Genet 2004; 41: e68. doi:10.1136/jmg.2003.013466 [Extract] [Full text] [PDF] [Request Permissions]
	Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis P S Roberts, S Dabora, E A Thiele, D N Franz, S Jozwiak, and D J Kwiatkowski J Med Genet 2004; 41: e69. doi:10.1136/jmg.2003.014126 [Extract] [Full text] [PDF] [Request Permissions]

Online medical genetics in practice

	Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation S Ogino, R B Wilson, and W W Grody J Med Genet 2004; 41: e70. doi:10.1136/jmg.2003.015065 [Extract] [Full text] [PDF] [Request Permissions]