jmg.bmj8h
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.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.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.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.bmj2d
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.bmj2d
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
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
Neuroferritinopathy in a French family with late onset dominant dystonia
1 Department of Neurology, The University of Newcastle upon Tyne, UK 2 Institute of Human Genetics, The University of Newcastle upon Tyne, UK 3 Department of Radiology, Newcastle upon Tyne Hospitals ...
jmg.bmj2d
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol
Correspondence to Professor Francesco Danilo Tiziano, Institute of Genomic Medicine, Catholic University, Roma 00168, Italy; francescodanilo.tiziano{at}unicatt.it Methods We have performed a 1-year ...
jmg.bmj3d
Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy
1 Department of Neurology, Kumamoto University School of Medicine, Kumamoto, Japan 2 Department of Laboratory Medicine, Kumamoto University School of Medicine, Kumamoto, Japan ...
jmg.bmj2d
Mitochondrial myopathy: a genetic study of 71 cases.
Department of Clinical Neurology, Institute of Neurology and National Hospital for Nervous Diseases, London. Of 71 index cases with histologically defined mitochondrial myopathy, 13 (18%) had ...