Review articles

	Mowat-Wilson syndrome D R Mowat, M J Wilson, and M Goossens J Med Genet 2003; 40: 305-310. doi:10.1136/jmg.40.5.305 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes C A Johnson, P Gissen, and C Sergi J Med Genet 2003; 40: 311-319. doi:10.1136/jmg.40.5.311 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9 G Andelfinger, K N Wright, H S Lee, L M Siemens, and D W Benson J Med Genet 2003; 40: 320-324. doi:10.1136/jmg.40.5.320 [Abstract] [Full text] [PDF] [Request Permissions]
	Disruption of the neuronal PAS3 gene in a family affected with schizophrenia D Kamnasaran, W J Muir, M A Ferguson-Smith, and D W Cox J Med Genet 2003; 40: 325-332. doi:10.1136/jmg.40.5.325 [Abstract] [Full text] [PDF] [Request Permissions]
	Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis P D Turnpenny, N Whittock, J Duncan, S Dunwoodie, K Kusumi, and S Ellard J Med Genet 2003; 40: 333-339. doi:10.1136/jmg.40.5.333 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32 N Kaminen, K Hannula-Jouppi, M Kestilä, P Lahermo, K Muller, M Kaaranen, B Myllyluoma, A Voutilainen, H Lyytinen, J Nopola-Hemmi, and J Kere J Med Genet 2003; 40: 340-345. doi:10.1136/jmg.40.5.340 [Abstract] [Full text] [PDF] [Request Permissions]
	Application of haplotype pair analysis for the identification of hemizygous loci B C Hendrickson, D Pruss, E Lyon, and T Scholl J Med Genet 2003; 40: 346-347. doi:10.1136/jmg.40.5.346 [Abstract] [Full text] [PDF] [Request Permissions]
	Does apolipoprotein E polymorphism influence susceptibility to malaria? M A Wozniak, E B Faragher, J A Todd, K A Koram, E M Riley, and R F Itzhaki J Med Genet 2003; 40: 348-351. doi:10.1136/jmg.40.5.348 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism D Castermans, V Wilquet, E Parthoens, C Huysmans, J Steyaert, L Swinnen, J-P Fryns, W Van de Ven, and K Devriendt J Med Genet 2003; 40: 352-356. doi:10.1136/jmg.40.5.352 [Extract] [Full text] [PDF] [Request Permissions]
	Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation T Bienvenu, K Poirier, H Van Esch, B Hamel, C Moraine, J P Fryns, H H Ropers, C Beldjord, H G Yntema, and J Chelly J Med Genet 2003; 40: 357-359. doi:10.1136/jmg.40.5.357 [Extract] [Full text] [PDF] [Request Permissions]
	Distinctive audiometric profile associated with DFNB21 alleles of TECTA S Naz, F Alasti, A Mowjoodi, S Riazuddin, M H Sanati, T B Friedman, A J Griffith, E R Wilcox, and S Riazuddin J Med Genet 2003; 40: 360-363. doi:10.1136/jmg.40.5.360 [Extract] [Full text] [PDF] [Request Permissions]
	Mutations of the Birt-Hogg-Dubé (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability J-H Shin, Y-K Shin, J-L Ku, S-Y Jeong, S-H Hong, S-Y Park, W-H Kim, and J-G Park J Med Genet 2003; 40: 364-367. doi:10.1136/jmg.40.5.364 [Extract] [Full text] [PDF] [Request Permissions]
	NF1 mutations and clinical spectrum in patients with spinal neurofibromas L Kluwe, M Tatagiba, C Fünsterer, and V-F Mautner J Med Genet 2003; 40: 368-371. doi:10.1136/jmg.40.5.368 [Extract] [Full text] [PDF] [Request Permissions]
	Gender specific association of aldosterone synthase gene polymorphism with renal survival in patients with IgA nephropathy J Song, I Narita, S Goto, N Saito, K Omori, F Sato, J Ajiro, D Saga, D Kondo, M Sakatsume, and F Gejyo J Med Genet 2003; 40: 372-376. doi:10.1136/jmg.40.5.372 [Extract] [Full text] [PDF] [Request Permissions]
	Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis R Willemsen, A Smits, L-A Severijnen, M Jansen, A Jacobs, E De Bruyn, and B Oostra J Med Genet 2003; 40: 377-379. doi:10.1136/jmg.40.5.377 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome H Gill, J P Cheadle, J Maynard, N Fleming, S Whatley, T Cranston, E M Thompson, H Leonard, M Davis, J Christodoulou, O Skjeldal, F Hanefeld, A Kerr, A Tandy, D Ravine, and A Clarke J Med Genet 2003; 40: 380-384. doi:10.1136/jmg.40.5.380 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? H Leonard, L Colvin, J Christodoulou, T Schiavello, S Williamson, M Davis, D Ravine, S Fyfe, N de Klerk, T Matsuishi, I Kondo, A Clarke, S Hackwell, and Y Yamashita J Med Genet 2003; 40: e52. doi:10.1136/jmg.40.5.e52 [Extract] [Full text] [PDF] [Request Permissions]
	Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene P F J Koppens, H J M Smeets, I J de Wijs, and H J Degenhart J Med Genet 2003; 40: e53. doi:10.1136/jmg.40.5.e53 [Extract] [Full text] [PDF] [Request Permissions]
	Cancer surveillance is often inadequate in people at high risk for colorectal cancer E M Stoffel, J E Garber, S Grover, L Russo, J Johnson, and S Syngal J Med Genet 2003; 40: e54. doi:10.1136/jmg.40.5.e54 [Extract] [Full text] [PDF] [Request Permissions]
	Experience of discharge from colonoscopy of mutation negative HNPCC family members E M A Bleiker, F H Menko, B G Taal, I Kluijt, L D V Wever, M A Gerritsma, H F A Vasen, and N K Aaronson J Med Genet 2003; 40: e55. doi:10.1136/jmg.40.5.e55 [Extract] [Full text] [PDF] [Request Permissions]
	Women’s preferences and consultants’ communication of risk in consultations about familial breast cancer: impact on patient outcomes E A Lobb, P N Butow, B Meiser, A Barratt, C Gaff, M A Young, J Kirk, M Gattas, M Gleeson, and K Tucker J Med Genet 2003; 40: e56. doi:10.1136/jmg.40.5.e56 [Extract] [Full text] [PDF] [Request Permissions]
	Evidence for linkage and association of the markers near the LPL gene with hypertension in Chinese families W J Yang, J F Huang, C L Yao, Z J Fan, D L Ge, W Q Gan, G Y Huang, R T Hui, Y Shen, B Q Qiang, and D F Gu J Med Genet 2003; 40: e57. doi:10.1136/jmg.40.5.e57 [Extract] [Full text] [PDF] [Request Permissions]
	Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography R Surber, H H Sigusch, H Kuehnert, and H R Figulla J Med Genet 2003; 40: e58. doi:10.1136/jmg.40.5.e58 [Extract] [Full text] [PDF] [Request Permissions]
	Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy J Mogensen, A Bahl, T Kubo, N Elanko, R Taylor, and W J McKenna J Med Genet 2003; 40: e59. doi:10.1136/jmg.40.5.e59 [Extract] [Full text] [PDF] [Request Permissions]
	Multicolour FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion J Kraus, M Cohen, and M R Speicher J Med Genet 2003; 40: e60. doi:10.1136/jmg.40.5.e60 [Extract] [Full text] [PDF] [Request Permissions]
	Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation T Mononen, A Sharp, M Laakso, R-L Meltoranta, A-K Valve-Dietz, and K Heinonen J Med Genet 2003; 40: e61. doi:10.1136/jmg.40.5.e61 [Extract] [Full text] [PDF] [Request Permissions]
	Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome M Meins, P Burfeind, S Motsch, R Trappe, D Bartmus, S Langer, M R Speicher, H Mühlendyck, I Bartels, and B Zoll J Med Genet 2003; 40: e62. doi:10.1136/jmg.40.5.e62 [Extract] [Full text] [PDF] [Request Permissions]
	Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy A Smith, G Loughnan, and K Steinbeck J Med Genet 2003; 40: e63. doi:10.1136/jmg.40.5.e63 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip V Shotelersuk, C Ittiwut, P Siriwan, and A Angspatt J Med Genet 2003; 40: e64. doi:10.1136/jmg.40.5.e64 [Extract] [Full text] [PDF] [Request Permissions]
	Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients E Meyer, H A Wollmann, and T Eggermann J Med Genet 2003; 40: e65. doi:10.1136/jmg.40.5.e65 [Extract] [Full text] [PDF] [Request Permissions]
	A common IL-1 complex haplotype is associated with an increased risk of atopy T Pessi, J Karjalainen, J Hulkkonen, M M Nieminen, and M Hurme J Med Genet 2003; 40: e66. doi:10.1136/jmg.40.5.e66 [Extract] [Full text] [PDF] [Request Permissions]
	Novel sarcoglycan gene mutations in a large cohort of Italian patients C Boito, M Fanin, G Siciliano, C Angelini, and E Pegoraro J Med Genet 2003; 40: e67. doi:10.1136/jmg.40.5.e67 [Extract] [Full text] [PDF] [Request Permissions]
	Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India M RamShankar, S Girirajan, O Dagan, H M Ravi Shankar, R Jalvi, R Rangasayee, K B Avraham, and A Anand J Med Genet 2003; 40: e68. doi:10.1136/jmg.40.5.e68 [Extract] [Full text] [PDF] [Request Permissions]
	Neuroferritinopathy in a French family with late onset dominant dystonia P F Chinnery, A R J Curtis, C Fey, A Coulthard, D Crompton, A Curtis, A Lombés, and J Burn J Med Genet 2003; 40: e69. doi:10.1136/jmg.40.5.e69 [Extract] [Full text] [PDF] [Request Permissions]
	ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy R Müllenbach, K J Linton, S Wiltshire, N Weerasekera, J Chambers, E Elias, C F Higgins, D G Johnston, M I McCarthy, and C Williamson J Med Genet 2003; 40: e70. doi:10.1136/jmg.40.5.e70 [Extract] [Full text] [PDF] [Request Permissions]
	A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia E Miraglia Del Giudice, G Coppola, G Bellini, P Ledaal, J M Hertz, and A Pascotto J Med Genet 2003; 40: e71. doi:10.1136/jmg.40.5.e71 [Extract] [Full text] [PDF] [Request Permissions]
	Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients A Cebrián, S Ruiz-Llorente, A Cascón, M Pollán, J J Díez, A Picó, D Tellería, J Benítez, and M Robledo J Med Genet 2003; 40: e72. doi:10.1136/jmg.40.5.e72 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation P Laiho, T Hienonen, J-P Mecklin, H Järvinen, A Karhu, V Launonen, and L A Aaltonen J Med Genet 2003; 40: e73. doi:10.1136/jmg.40.5.e73 [Extract] [Full text] [PDF] [Request Permissions]