Original articles

	Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia R E Harrison, J A Flanagan, M Sankelo, S A Abdalla, J Rowell, R D Machado, C G Elliott, I M Robbins, H Olschewski, V McLaughlin, E Gruenig, F Kermeen, T Laitinen, N W Morrell, and R C Trembath J Med Genet 2003; 40: 865-871. doi:10.1136/jmg.40.12.865 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22–q24 A Martinez-Mir, A Zlotogorski, D Londono, D Gordon, A Grunn, E Uribe, L Horev, I M Ruiz, N O Davalos, O Alayan, J Liu, T C Gilliam, J C Salas-Alanis, and A M Christiano J Med Genet 2003; 40: 872-878. doi:10.1136/jmg.40.12.872 [Abstract] [Full text] [PDF] [Request Permissions]
	A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) E van Wijk, E Krieger, M H Kemperman, E M R De Leenheer, P L M Huygen, C W R J Cremers, F P M Cremers, and H Kremer J Med Genet 2003; 40: 879-884. doi:10.1136/jmg.40.12.879 [Abstract] [Full text] [PDF] [Request Permissions]
	Somatic instability of the DNA sequences encoding the polymorphic polyglutamine tract of the AIB1 gene P Dai and L-J C Wong J Med Genet 2003; 40: 885-890. doi:10.1136/jmg.40.12.885 [Abstract] [Full text] [PDF] [Request Permissions]
	Consequences of JAG1 mutations B M Kamath, L Bason, D A Piccoli, I D Krantz, and N B Spinner J Med Genet 2003; 40: 891-895. doi:10.1136/jmg.40.12.891 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency S Lebon, M Chol, P Benit, C Mugnier, D Chretien, I Giurgea, I Kern, E Girardin, L Hertz-Pannier, P de Lonlay, A Rötig, P Rustin, and A Munnich J Med Genet 2003; 40: 896-899. doi:10.1136/jmg.40.12.896 [Abstract] [Full text] [PDF] [Request Permissions]
	Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects T C Hart, P S Hart, M C Gorry, M D Michalec, O H Ryu, C Uygur, D Ozdemir, S Firatli, G Aren, and E Firatli J Med Genet 2003; 40: 900-906. doi:10.1136/jmg.40.12.900 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA) H R Slater, D L Bruno, H Ren, M Pertile, J P Schouten, and K H A Choo J Med Genet 2003; 40: 907-912. doi:10.1136/jmg.40.12.907 [Extract] [Full text] [PDF] [Request Permissions]
	A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency G Bonapace, D Concolino, S Formicola, and P Strisciuglio J Med Genet 2003; 40: 913-917. doi:10.1136/jmg.40.12.913 [Extract] [Full text] [PDF] [Request Permissions]
	APOE and TGF-ß1 genes are associated with obesity phenotypes J-R Long, P-Y Liu, Y-J Liu, Y Lu, D-H Xiong, L Elze, R R Recker, and H-W Deng J Med Genet 2003; 40: 918-924. doi:10.1136/jmg.40.12.918 [Extract] [Full text] [PDF] [Request Permissions]
	Inbreeding and risk of late onset complex disease I Rudan, D Rudan, H Campbell, A Carothers, A Wright, N Smolej-Narancic, B Janicijevic, L Jin, R Chakraborty, R Deka, and P Rudan J Med Genet 2003; 40: 925-932. doi:10.1136/jmg.40.12.925 [Extract] [Full text] [PDF] [Request Permissions]
	Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction R Mango, F Clementi, P Borgiani, G B Forleo, M Federici, G Contino, E Giardina, L Garza, I E Fahdi, R Lauro, J L Mehta, G Novelli, and F Romeo J Med Genet 2003; 40: 933-936. doi:10.1136/jmg.40.12.933 [Extract] [Full text] [PDF] [Request Permissions]
	Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes J C Oosterwijk, S Mansour, G van Noort, H R Waterham, C M Hall, and R C M Hennekam J Med Genet 2003; 40: 937-941. doi:10.1136/jmg.40.12.937 [Extract] [Full text] [PDF] [Request Permissions]
	A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations E Jakkula, J Lohiniva, A Capone, L Bonafe, M Marti, V Schuster, A Giedion, G Eich, E Boltshauser, L Ala-Kokko, and A Superti-Furga J Med Genet 2003; 40: 942-948. doi:10.1136/jmg.40.12.942 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes E P Leeflang, S E Marsh, E Parrini, F Moro, D Pilz, W B Dobyns, R Guerrini, J W Wheless, and J G Gleeson J Med Genet 2003; 40: e128. doi:10.1136/jmg.40.12.e128 [Extract] [Full text] [PDF] [Request Permissions]
	Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype A C Offiah, S Mansour, I Jeffrey, R Nash, N Whittock, R Pyper, S Bewley, P T Clayton, and C M Hall J Med Genet 2003; 40: e129. doi:10.1136/jmg.40.12.e129 [Extract] [Full text] [PDF] [Request Permissions]
	Renoprotective efficacy of renin–angiotensin inhibitors in IgA nephropathy is influenced by ACE A2350G polymorphism I Narita, S Goto, N Saito, J Song, K Omori, D Kondo, M Sakatsume, and F Gejyo J Med Genet 2003; 40: e130. doi:10.1136/jmg.40.12.e130 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility K Heikkinen, S-M Karppinen, Y Soini, M Mäkinen, and R Winqvist J Med Genet 2003; 40: e131. doi:10.1136/jmg.40.12.e131 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes M Vytopil, S Benedetti, E Ricci, G Galluzzi, A Dello Russo, L Merlini, G Boriani, M Gallina, L Morandi, L Politano, M Moggio, L Chiveri, I Hausmanova-Petrusewicz, R Ricotti, S Vohanka, J Toman, and D Toniolo J Med Genet 2003; 40: e132. doi:10.1136/jmg.40.12.e132 [Extract] [Full text] [PDF] [Request Permissions]
	Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene I Dianzani, E Garelli, P Gustavsson, A Carando, B Gustafsson, N Dahl, and G Annerén J Med Genet 2003; 40: e133. doi:10.1136/jmg.40.12.e133 [Extract] [Full text] [PDF] [Request Permissions]