jmg.bmj

Molecular karyotyping using an SNP array for genomewide genotyping

Background: Chromosomal imbalances are a major cause of developmental defects as well as cancer and often constitute the key in identification of novel disease related genes. Classical cytogenetic ...
jmg.bmj

Angelman syndrome: a review of the clinical and genetic aspects

Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...
jmg.bmj

Online First

Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity ...
jmg.bmj

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

1 Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands 2 Metabolic Diseases, Wilhelmina Children's Hospital, University of Utrecht, ...
jmg.bmj

Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research

Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...
jmg.bmj

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.bmj

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

4 Department of Pulmonology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 5 Department of Otolaryngology, Head and Neck Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, ...
jmg.bmj

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.bmj

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Correspondence to Dr Jennifer M Kalish, Division of Human Genetics, The Children's Hospital of Philadelphia, 1002 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA; kalishj ...
jmg.bmj

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

4 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea Correspondence to Dr Si Houn Hahn, Department of Pediatrics, University of Washington School of Medicine, Seattle ...
jmg.bmj

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family

BACKGROUND Primary pulmonary hypertension (PPH), resulting from occlusion of small pulmonary arteries, is a devastating condition. Mutations of the bone morphogenetic protein receptor type II gene ...
jmg.bmj

Long-term efficacy of migalastat in females with Fabry disease

Background Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. Females with Fabry disease often experience ...