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.bmj2d
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.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.bmj4d
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.bmj3d
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.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.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.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.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.bmj2d
What did we learn from the genome-wide association study for tuberculosis susceptibility?
Correspondence to Dr Hui-Qi Qu, University of Texas Health Science Center at Houston, School of Public Health, Brownsville campus, 80 Fort Brown, SPH Bldg, Brownsville, TX 78520, USA; ...
jmg.bmj2d
A Hirschsprung disease locus at 22q11?
We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an ...