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European Journal of Human Genetics


Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus Long-term outcome of presymptomatic testing in Huntington disease Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia The DLX1and DLX2 genes and susceptibility to autism spectrum disorders Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate A novel missense RAG-1 mutation results in T?B?NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2 The mutation spectrum in RECQL4 diseases Lactase persistence-related genetic variant: population substructure and health outcomes The E-cadherin (CDH1) ?160 C/A polymorphism and prostate cancer risk: a meta-analysis Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study) A familial inverted duplication/deletion of 2p25.1?25.3 provides new clues on the genesis of inverted duplications Meta-analysis of genome-wide linkage studies across autoimmune diseases Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993?2004) Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families Missense mutations to the TSC1 gene cause tuberous sclerosis complex Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease

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