jmg.bmj2d
Friedreich ataxia: an overview
Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...
jmg.bmj5d
Online First
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature ...
jmg.bmj1d
SNVerGUI: a desktop tool for variant analysis of next-generation sequencing data
Background Advances in next generation sequencing (NGS) technology have made it possible to interrogate comprehensively genome-wide genetic variations. However, most existing tools for variation ...
jmg.bmj2d
Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia ...
jmg.bmj4d
Cleidocranial dysplasia: clinical and molecular genetics
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...
jmg.bmj3d
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
2 Trinity College Institute of Neuroscience, Trinity College, Dublin, Ireland 3 Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland 4 TrinSeq, Institute of Molecular ...
jmg.bmj6d
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
1 Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland 2 Department of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki ...
jmg.bmj12d
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.bmj6d
Genetic T-type calcium channelopathies
Correspondence to Dr Norbert Weiss, Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Praha 166 10, Czech Republic; weiss{at}uochb.cas.cz; Dr Gerald W Zamponi, Department of ...
jmg.bmj3d
The Baller-Gerold syndrome.
A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death ...
jmg.bmj13d
Cardiovascular manifestations in 75 patients with Williams syndrome
Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...
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 ...