Background Myotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in ...
Background Heterozygous PURA (Purine-rich element-binding protein A) variants cause PURA syndrome, a neurodevelopmental disorder characterised by hypotonia, seizures and intellectual disability.
Departments of Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon, USA A Gregory, Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson ...
Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) is one of the most common autosomal dominant neuromuscular diseases. Genetic diagnosis of FSHD1 remains a challenge because of the long ...
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 ...
Background Autosomal dominant (AD) inheritance often arises through haploinsufficiency, dominant-negative or gain of function (GoF) effects, while autosomal recessive (AR) inheritance generally ...
Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists ...
Background Early detection of lung cancer to allow curative treatment remains challenging. Cell-free circulating tumour (ct) DNA (ctDNA) analysis may aid in malignancy assessment and early cancer ...
aDepartment of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK, bPrimary Care and Population Sciences, University College Medical School, Royal Free Campus, Rowland Hill Street, ...
Background Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (ie, deletions and duplications of genetic material) can place a considerable burden on parents and their ...
Professor R C Trembath, Division of Genetics and Molecular Medicine, King’s College School of Medicine, 9th Floor Guy’s Tower, Guy’s Hospital, SE1 9RT London, UK; ...
Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...
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