jmg.bmj12h
The face of Smith-Magenis syndrome: a subjective and objective study
We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of “gestalt” and detailed facial measurement, using ...
jmg.bmj2d
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5
Background Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is ...
jmg.bmj3d
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
Correspondence to: Dr William C Nichols Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 1469 TCHRF, Cincinnati, OH 45229, USA; bill.nicholscchmc.org ...
jmg.bmj3d
Gene expression as a quantitative trait: what about translation?
Correspondence to Dr Constantin Polychronakos, The Endocrine Genetics Laboratory, Departments of Pediatrics and Human Genetics, the Research Institute of the McGill University Health Centre, The ...
jmg.bmj3d
FRG1P is localised in the nucleolus, Cajal bodies, and speckles
1 Department of Human Genetics, Leiden University Medical Center, Netherlands 2 Department of Molecular Cell Biology, Leiden University Medical Center, Netherlands 3 Centre for Electron Microscopy, ...
jmg.bmj3d
Splicing in action: assessing disease causing sequence changes
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...
jmg.bmj6d
Classification of PTEN germline non-truncating variants: a new approach to interpretation
Background PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden syndrome resulting from PTEN pathogenic variants. Missense variants account for 30% of PHTS cases, but ...
jmg.bmj7d
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes
1 Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan 2 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan Correspondence to ...
jmg.bmj9d
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia
1 Paediatric Neurology Unit, Sheba Medical Centre, Ramat-Gan, Israel 2 Neuroradiology Unit, Sheba Medical Centre, Ramat-Gan, Israel 3 Metabolic-Neurogenetic Clinic, Paediatric Neurology Unit, Wolfson ...
jmg.bmj12d
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
Background The regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin ...
jmg.bmj18d
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
von Hippel-Lindau (VHL) is an autosomal-dominant hereditary tumour susceptibility disease associated with pathogenic germline variants in the VHL tumour suppressor gene. VHL patients are at increased ...
jmg.bmj25d
Phenome-wide association study maps new diseases to the human major histocompatibility complex region
1 Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA 2 Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, ...