jmg.bmj2d
What can exome sequencing do for you?
3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...
jmg.bmj2d
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Background Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to ...
jmg.bmj3d
Online First
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy ...
jmg.bmj3d
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype ...
jmg.bmj3d
Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature
Division of Pediatric Cardiology, Doernbecher Children’s Hospital, Oregon Health & Science University, Oregon, USA M Silberbach, MD, Department of Pediatrics, CDRC-P, Oregon Health and Science ...
jmg.bmj4d
Heritability of metabolic syndrome traits among healthy younger adults: a population based study in China
3 Institute of Dermatology and Department of Dermatology at the First Hospital, Anhui Medical University, Hefei, Anhui, China 4 Key Lab of Gene Resource Utilization for Severe Diseases, Ministry of ...
jmg.bmj7d
Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.
We report the molecular characterisation of two families with Angelman syndrome referred for prenatal diagnosis, in which atypical molecular findings resulted in counselling dilemmas. The first is a ...
jmg.bmj23d
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology
Correspondence to Dr Nina Ajmone Marsan, Cardiology, Leiden University Medical Center, Leiden, Zuid-Holland, Netherlands; N.Ajmone{at}lumc.nl Methods Patients with MVP were referred for genetic ...
jmg.bmj24d
Myasthenia gravis genome-wide association study implicates AGRN as a risk locus
4 The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus Correspondence to Dr Peristera Paschou, Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA; ...
jmg.bmj27d
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
The veracity of the estimates in our study was corroborated by a whole population epidemiological study of NF1 in Finland (population 5.5M).5 A total of 58 MPNST were observed from 1987 to 2012, ...
jmg.bmj1mon
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 ...