Reviews

	In vivo reversion to normal of inherited mutations in humans R Hirschhorn J Med Genet 2003; 40: 721-728. doi:10.1136/jmg.40.10.721 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity L Basel-Vanagaite, A Alkelai, R Straussberg, N Magal, D Inbar, M Mahajna, and M Shohat J Med Genet 2003; 40: 729-732. doi:10.1136/jmg.40.10.729 [Abstract] [Full text] [PDF] [Request Permissions]
	Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype M G de Silva, K Elliott, H-H Dahl, E Fitzpatrick, S Wilcox, M Delatycki, R Williamson, D Efron, M Lynch, and S Forrest J Med Genet 2003; 40: 733-740. doi:10.1136/jmg.40.10.733 [Abstract] [Full text] [Figures 2 and 4] [PDF] [Request Permissions]
	Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia M Ridanpää, L M Ward, S Rockas, M Särkioja, H Mäkelä, M Susic, F H Glorieux, W G Cole, and O Mäkitie J Med Genet 2003; 40: 741-746. doi:10.1136/jmg.40.10.741 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 P J Coucke, M W Wessels, P Van Acker, R Gardella, S Barlati, P J Willems, M Colombi, and A De Paepe J Med Genet 2003; 40: 747-751. doi:10.1136/jmg.40.10.747 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy R Horváth, H Lochmüller, C Scharfe, B H Do, P J Oefner, J Müller-Höcker, B G Schoser, D Pongratz, D P Auer, and M Jaksch J Med Genet 2003; 40: 752-757. doi:10.1136/jmg.40.10.752 [Extract] [Full text] [PDF] [Request Permissions]
	Genotype-phenotype correlations for cataracts in neurofibromatosis 2 M E Baser, L Kuramoto, H Joe, J M Friedman, A J Wallace, R T Ramsden, and D G R Evans J Med Genet 2003; 40: 758-760. doi:10.1136/jmg.40.10.758 [Extract] [Full text] [Corrected Table 2][Corrected Table 2] [PDF] [Request Permissions]
	Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene T W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, and R C M Hennekam J Med Genet 2003; 40: 761-766. doi:10.1136/jmg.40.10.761 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III S L Ness, T Ben-Yosef, A Bar-Lev, A C Madeo, C C Brewer, K B Avraham, R Kornreich, R J Desnick, J P Willner, T B Friedman, and A J Griffith J Med Genet 2003; 40: 767-772. doi:10.1136/jmg.40.10.767 [Extract] [Full text] [PDF] [Request Permissions]
	Effect of the peroxisome proliferator activated receptor- gene Pro12Ala variant on body mass index: a meta-analysis S Masud and S Ye J Med Genet 2003; 40: 773-780. doi:10.1136/jmg.40.10.773 [Extract] [Full text] [PDF] [Request Permissions]
	Receptor mediated effect of serotonergic transmission in patients with bipolar affective disorder Y M J Lin, H C Yang, T J Lai, C S J Fann, and H S Sun J Med Genet 2003; 40: 781-786. doi:10.1136/jmg.40.10.781 [Extract] [Full text] [PDF] [Request Permissions]
	A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology R M Giusti, J L Rutter, P H Duray, L S Freedman, M Konichezky, J Fisher-Fischbein, M H Greene, B Maslansky, A Fischbein, S B Gruber, G Rennert, R D Ronchetti, S M Hewitt, J P Struewing, and J Iscovich J Med Genet 2003; 40: 787-792. doi:10.1136/jmg.40.10.787 [Extract] [Full text] [Author Correction] [PDF] [Request Permissions]

Echoes

	Age at onset and female sex typify primary congenital glaucoma with CYP1B1 mutation J Med Genet 2003; 40: 740. doi:10.1136/jmg.40.10.740 [Extract] [Full text] [PDF] [Request Permissions]
	Transplanting CY282 heterozygous livers is risky J Med Genet 2003; 40: 746. doi:10.1136/jmg.40.10.746 [Extract] [Full text] [PDF] [Request Permissions]
	Finns with CARD15/N0D2 variants have more familial and invasive coeliac disease J Med Genet 2003; 40: 757. doi:10.1136/jmg.40.10.757 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic influences in gastro-oesophageal reflux disease: a twin study I Mohammed, L F Cherkas, S A Riley, T D Spector, and N J Trudgill J Med Genet 2003; 40: 780. doi:10.1136/jmg.40.10.780 [Extract] [Full text] [PDF] [Request Permissions]
	Genotype-phenotype analysis of the Crohn’s disease susceptibility haplotype on chromosome 5q31 A Armuzzi, T Ahmad, K-L Ling, A de Silva, S Cullen, D van Heel, T R Orchard, K I Welsh, S E Marshall, and D P Jewell J Med Genet 2003; 40: 792. doi:10.1136/jmg.40.10.792 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Evaluation of genotype-phenotype correlations in neurofibromatosis type 1 B Castle, M E Baser, S M Huson, D N Cooper, and M Upadhyaya J Med Genet 2003; 40: e109. doi:10.1136/jmg.40.10.e109 [Extract] [Full text] [PDF] [Request Permissions]
	CHEK2 1100delC and colorectal cancer O Kilpivaara, P Laiho, L A Aaltonen, and H Nevanlinna J Med Genet 2003; 40: e110. doi:10.1136/jmg.40.10.e110 [Extract] [Full text] [PDF] [Request Permissions]
	PTEN hamartoma tumour syndrome: variability of an entity J H M Merks, L S de Vries, X-P Zhou, P Nikkels, P G Barth, C Eng, and R C M Hennekam J Med Genet 2003; 40: e111. doi:10.1136/jmg.40.10.e111 [Extract] [Full text] [PDF] [Request Permissions]
	Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy W M A Verhoeven, S Tuinier, and L M G Curfs J Med Genet 2003; 40: e112. doi:10.1136/jmg.40.10.e112 [Extract] [Full text] [PDF] [Request Permissions]
	An alternative to FISH: detecting deletion and duplication carriers within 24 hours S J White, E Sterrenburg, G-J B van Ommen, J T den Dunnen, and M H Breuning J Med Genet 2003; 40: e113. doi:10.1136/jmg.40.10.e113 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema S-A Cumming, D J Halsall, P W Ewan, and D A Lomas J Med Genet 2003; 40: e114. doi:10.1136/jmg.40.10.e114 [Extract] [Full text] [PDF] [Request Permissions]
	A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B A Todorova, B Halliger-Keller, M C Walter, M-C Dabauvalle, H Lochmüller, and C R Müller J Med Genet 2003; 40: e115. doi:10.1136/jmg.40.10.e115 [Extract] [Full text] [PDF] [Request Permissions]
	Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region H Kehrer-Sawatzki, S Tinschert, and D E Jenne J Med Genet 2003; 40: e116. doi:10.1136/jmg.40.10.e116 [Extract] [Full text] [PDF] [Request Permissions]
	BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer J-H Sng, A B Ali, S C Lee, D Zahar, J E L Wong, V Blake, A Sharif, G Cross, and P T C Iau J Med Genet 2003; 40: e117. doi:10.1136/jmg.40.10.e117 [Extract] [Full text] [PDF] [Request Permissions]