Review articles

	New approaches to investigating heterogeneity in complex traits R Bomprezzi, P E Kovanen, and R Martin J Med Genet 2003; 40: 553-559. doi:10.1136/jmg.40.8.553 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations P Sébillon, C Bouchier, L D Bidot, G Bonne, K Ahamed, P Charron, V Drouin-Garraud, A Millaire, G Desrumeaux, A Benaïche, J-C Charniot, K Schwartz, E Villard, and M Komajda J Med Genet 2003; 40: 560-567. doi:10.1136/jmg.40.8.560 [Abstract] [Full text] [PDF] [Request Permissions]
	Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD D C Bittel, N Kibiryeva, Z Talebizadeh, and M G Butler J Med Genet 2003; 40: 568-574. doi:10.1136/jmg.40.8.568 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms H L Wilson, A C C Wong, S R Shaw, W-Y Tse, G A Stapleton, M C Phelan, S Hu, J Marshall, and H E McDermid J Med Genet 2003; 40: 575-584. doi:10.1136/jmg.40.8.575 [Abstract] [Full text] [PDF] [Request Permissions]
	Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations J Berg, M Porteous, D Reinhardt, C Gallione, S Holloway, T Umasunthar, A Lux, W McKinnon, D Marchuk, and A Guttmacher J Med Genet 2003; 40: 585-590. doi:10.1136/jmg.40.8.585 [Abstract] [Full text] [PDF] [Request Permissions]
	Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer P Watson, S A Narod, R Fodde, A Wagner, J F Lynch, S T Tinley, C L Snyder, S A Coronel, B Riley, Y Kinarsky, and H T Lynch J Med Genet 2003; 40: 591-596. doi:10.1136/jmg.40.8.591 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome J Plaschke, J Rüschoff, and H K Schackert J Med Genet 2003; 40: 597-600. doi:10.1136/jmg.40.8.597 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome C Zweier, I K Temple, F Beemer, E Zackai, T Lerman-Sagie, B Weschke, C E Anderson, and A Rauch J Med Genet 2003; 40: 601-605. doi:10.1136/jmg.40.8.601 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene M Herasse, M Spentchian, A Taillandier, K Keppler-Noreuil, A N M Fliorito, J Bergoffen, R Wallerstein, C Muti, B Simon-Bouy, and E Mornet J Med Genet 2003; 40: 605-609. doi:10.1136/jmg.40.8.605 [Extract] [Full text] [Publisher Correction] [PDF] [Request Permissions]
	RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections I Zito, S M Downes, R J Patel, M E Cheetham, N D Ebenezer, S A Jenkins, S S Bhattacharya, A R Webster, G E Holder, A C Bird, D E Bamiou, and A J Hardcastle J Med Genet 2003; 40: 609-615. doi:10.1136/jmg.40.8.609 [Extract] [Full text] [PDF] [Request Permissions]
	Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy A Hameed, A Abid, A Aziz, M Ismail, S Q Mehdi, and S Khaliq J Med Genet 2003; 40: 616-619. doi:10.1136/jmg.40.8.616 [Extract] [Full text] [PDF] [Request Permissions]
	Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide B Wilcken, F Bamforth, Z Li, H Zhu, A Ritvanen, M Redlund, C Stoll, Y Alembik, B Dott, A E Czeizel, Z Gelman-Kohan, G Scarano, S Bianca, G Ettore, R Tenconi, S Bellato, I Scala, O M Mutchinick, M A López, H de Walle, R Hofstra, L Joutchenko, L Kavteladze, E Bermejo, M L Martínez-Frías, M Gallagher, J D Erickson, S E Vollset, P Mastroiacovo, G Andria, and L D Botto J Med Genet 2003; 40: 619-625. doi:10.1136/jmg.40.8.619 [Extract] [Full text] [Author List Correction] [PDF] [Request Permissions]
	Small babies receive the cardiovascular protective apolipoprotein 2 allele less frequently than expected C Infante-Rivard, E Lévy, G-E Rivard, M Guiguet, and J-C Feoli-Fonseca J Med Genet 2003; 40: 626-629. doi:10.1136/jmg.40.8.626 [Extract] [Full text] [PDF] [Request Permissions]
	Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3 Y J Lee, D Park, S Y Kim, and W J Park J Med Genet 2003; 40: 629-631. doi:10.1136/jmg.40.8.629 [Extract] [Full text] [PDF] [Request Permissions]
	Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss F J del Castillo, M Rodríguez-Ballesteros, Y Martín, B Arellano, J Gallo-Terán, C Morales-Angulo, R Ramírez-Camacho, M Cruz Tapia, J Solanellas, A Martínez-Conde, M Villamar, M A Moreno-Pelayo, F Moreno, and I del Castillo J Med Genet 2003; 40: 632-636. doi:10.1136/jmg.40.8.632 [Extract] [Full text] [PDF] [Request Permissions]
	Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients A Álvarez, I del Castillo, A Pera, M Villamar, M A Moreno-Pelayo, T Rivera, J Solanellas, and F Moreno J Med Genet 2003; 40: 636-639. doi:10.1136/jmg.40.8.636 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	New germline p53 mutation turns up multiple colon tumours J Med Genet 2003; 40: 574. doi:10.1136/jmg.40.8.574 [Extract] [Full text] [PDF] [Request Permissions]
	Rare eye condition maps within NNO1 locus for nanophthalmia J Med Genet 2003; 40: 574. doi:10.1136/jmg.40.8.574-a [Extract] [Full text] [PDF] [Request Permissions]
	Doctors get closer to deciding the true birth prevalence of Prader-Willi syndrome J Med Genet 2003; 40: 590. doi:10.1136/jmg.40.8.590 [Extract] [Full text] [PDF] [Request Permissions]
	SPINK1 mutations predispose to chronic pancreatitis J Med Genet 2003; 40: 590. doi:10.1136/jmg.40.8.590-a [Extract] [Full text] [PDF] [Request Permissions]
	A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families M F El-Ashry, M M Abd El-Aziz, D F P Larkin, B Clarke, I A Cree, A J Hardcastle, S S Bhattacharya, and N D Ebenezer J Med Genet 2003; 40: 596. doi:10.1136/jmg.40.8.596 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy M Savander, A Ropponen, K Avela, N Weerasekera, B Cormand, M-L Hirvioja, S Riikonen, O Ylikorkala, A-E Lehesjoki, C Williamson, and K Aittomäki J Med Genet 2003; 40: 640. doi:10.1136/jmg.40.8.640 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies H Ozcelik, J A Knight, G Glendon, H Yazici, N Carson, P J Ainsworth, S A M Taylor, H Feilotter, R F Carter, N F Boyd, and I L Andrulis J Med Genet 2003; 40: e91. doi:10.1136/jmg.40.8.e91 [Extract] [Full text] [PDF] [Request Permissions]
	De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones M B Delatycki, A Danks, A Churchyard, X-P Zhou, and C Eng J Med Genet 2003; 40: e92. doi:10.1136/jmg.40.8.e92 [Extract] [Full text] [PDF] [Request Permissions]
	Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event J R Vermeesch, R Thoelen, I Salden, M Raes, G Matthijs, and J-P Fryns J Med Genet 2003; 40: e93. doi:10.1136/jmg.40.8.e93 [Extract] [Full text] [PDF] [Request Permissions]
	Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism? M C Bonaglia, R Giorda, A Cavallini, T Pramparo, M Rocchi, R Borgatti, and O Zuffardi J Med Genet 2003; 40: e94. doi:10.1136/jmg.40.8.e94 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. M D Hodges, H C Rees, M J Seckl, E S Newlands, and R A Fisher J Med Genet 2003; 40: e95. doi:10.1136/jmg.40.8.e95 [Extract] [Full text] [PDF] [Request Permissions]
	Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia B Ben-Zeev, C Hoffman, D Lev, N Watemberg, G Malinger, N Brand, and T Lerman-Sagie J Med Genet 2003; 40: e96. doi:10.1136/jmg.40.8.e96 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	A novel germline mutation in the MET extracellular domain in a Korean patient with the diffuse type of familial gastric cancer I-J Kim, J-H Park, H C Kang, Y Shin, S-B Lim, J-L Ku, H-K Yang, K U Lee, and J-G Park J Med Genet 2003; 40: e97. doi:10.1136/jmg.40.8.e97 [Extract] [Full text] [PDF] [Request Permissions]
	BRCA1 and BRCA2 mutations have no major role in predisposition to prostate cancer in Finland T Ikonen, M P Matikainen, K Syrjäkoski, N Mononen, P A Koivisto, A Rökman, E H Seppälä, O-P Kallioniemi, T L J Tammela, and J Schleutker J Med Genet 2003; 40: e98. doi:10.1136/jmg.40.8.e98 [Extract] [Full text] [PDF] [Request Permissions]
	Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome R Heller, A Rauch, S Lüttgen, B Schröder, and A Winterpacht J Med Genet 2003; 40: e99. doi:10.1136/jmg.40.8.e99 [Extract] [Full text] [PDF] [Request Permissions]
	Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion F Gualandi, C Trabanelli, P Rimessi, E Calzolari, L Toffolatti, T Patarnello, G Kunz, F Muntoni, and A Ferlini J Med Genet 2003; 40: e100. doi:10.1136/jmg.40.8.e100 [Extract] [Full text] [PDF] [Request Permissions]
	Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing T Aung, N D Ebenezer, G Brice, A H Child, Q Prescott, O J Lehmann, R A Hitchings, and S S Bhattacharya J Med Genet 2003; 40: e101. doi:10.1136/jmg.40.8.e101 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred A H Prowse, D C Schultz, S Guo, L Vanderveer, J Dangel, B Bove, P Cairns, M Daly, and A K Godwin J Med Genet 2003; 40: e102. doi:10.1136/jmg.40.8.e102 [Extract] [Full text] [PDF] [Request Permissions]
	Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers A Morrone, C Cavicchi, T Bardelli, D Antuzzi, R Parini, M Di Rocco, S Feriozzi, O Gabrielli, R Barone, G Pistone, C Spisni, R Ricci, and E Zammarchi J Med Genet 2003; 40: e103. doi:10.1136/jmg.40.8.e103 [Extract] [Full text] [PDF] [Request Permissions]
	Further support for digenic inheritance in Bardet-Biedl syndrome S Fauser, M Munz, and D Besch J Med Genet 2003; 40: e104. doi:10.1136/jmg.40.8.e104 [Extract] [Full text] [PDF] [Request Permissions]
	Ser19Trp polymorphism within the apolipoprotein AV gene in hypertriglyceridaemic people M Vrablík, A Horínek, R Ceska, V Adámková, R Poledne, and J A Hubacek J Med Genet 2003; 40: e105. doi:10.1136/jmg.40.8.e105 [Extract] [Full text] [PDF] [Request Permissions]