News

jmg.bmj1d
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy
Correspondence to: Dr P Carmeliet Centre for Transgene Technology and Gene Therapy, Flanders Interuniversitary Institute for Biotechnology, KULeuven, Campus ...
jmg.bmj2d
The Smith-Lemli-Opitz syndrome
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...
jmg.bmj2d
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
3 Department of Neurosciences, S Antonio University Hospital, Padova, Italy 4 Department of Anaesthesia, S Antonio University Hospital, Padova, Italy Correspondence to: Professor V Sorrentino ...
jmg.bmj3d
Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum
Correspondence to Lee-Jun C Wong, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA; ljwong{at}bcm.edu Mitochondria are the ...
jmg.bmj3d
Cancer immunotherapy: challenges and clinical applications
Correspondence to Dr Xiao-Jie Lu, Department of General Surgery, Liver Transplantation Center, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China; 189{at}whu.edu.cn ...
jmg.bmj3d
The human Y chromosome.
Despite its central role in sex determination, genetic analysis of the Y chromosome has been slow. This poor progress has been due to the paucity of available genetic markers. Whereas the X chromosome ...
jmg.bmj4d
Prenatal diagnosis of the common haemoglobin disorders.
New techniques of DNA analysis have been applied to the prenatal diagnosis of the common haemoglobin disorders. Currently, it is possible to provide a comprehensive programme for the prevention of ...
jmg.bmj4d
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
Correspondence to Mr Thomas P Potjer, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; T.P.Potjer{at}lumc.nl Background Pathogenic variants in the CDKN2A ...
jmg.bmj5d
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
Abstract We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin ...
jmg.bmj6d
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
jmg.bmj6d
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental ...
The underlying causes of learning disability and dysmorphic features in many patients remain unidentified despite extensive investigation. Routine karyotype analysis is not sensitive enough to detect ...
jmg.bmj7d
A new case of proximal 10q partial trisomy.
Department of Morphologic Sciences, Universidad Peruana Cayetano Heredia, Lima. We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to ...