Bmj - jmg.bmj.com - Journal of Medical Genetics current issue
General Information:
Latest News:
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe 16 Aug 2013 | 03:18 pm
Background Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect ...
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion 16 Aug 2013 | 03:18 pm
Background Metacarpal 4–5 fusion (MF4; MIM %309630) is a rare congenital malformation of the hand characterised by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occu...
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly 16 Aug 2013 | 03:18 pm
Background Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported...
Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study 16 Aug 2013 | 03:18 pm
Background Genome-wide association studies have convincingly shown that single nucleotide polymorphisms (SNPs) in HFE and TMPRSS6 are associated with iron parameters. It was commonly thought that the...
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy 16 Aug 2013 | 03:18 pm
Background Peripheral neuropathy is the dose limiting toxicity of paclitaxel, a chemotherapeutic drug widely used to treat solid tumours. This toxicity exhibits great inter-individual variability of ...
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of ... 16 Aug 2013 | 03:18 pm
Background Consensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, ...
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics 16 Aug 2013 | 03:18 pm
Background Genetic evaluation of cardiomyopathies poses a challenge. Multiple genes are involved but no clear genotype–phenotype correlations have been found so far. In the past, genetic evaluation f...
Advancing genetic testing for deafness with genomic technology 16 Aug 2013 | 03:18 pm
Background Non-syndromic hearing loss (NSHL) is the most common sensory impairment in humans. Until recently its extreme genetic heterogeneity precluded comprehensive genetic testing. Using a platfo...
Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testi... 16 Aug 2013 | 03:18 pm
Background About half of all children with a clinical diagnosis of Silver–Russell syndrome (SRS) have a detectable molecular genetic abnormality (maternal uniparental disomy of chromosome upd(7)mat o...
Victor McKusick and the History of Medical Genetics 16 Aug 2013 | 03:18 pm
This book is a tribute to the life of Victor McKusick, one of the giants in the fields of human and medical genetics. Dr McKusick has had genetic institutes named after him in Baltimore, Bologna and B...
