Guidelines for HTT triplet-repeat testing in Huntington’s disease (HD) have long been advanced. These include recommendations ...
2 Institute for Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany Correspondence to Professor Orly Elpeleg ...
Background Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon ...
Dual impact of uniparental disomy in imprinting and recessive disorders: a case of UPD(15) with unexpected inheritance and literature review ...
Phenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review aims to summarise the PheWAS ...
Correspondence to Dr Julie-Aurore Losman, Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA; Julieaurore_Losman{at}dfci.harvard.edu Background ...
7 Department of Child Health, University of Missouri School of Medicine, Columbia, Missouri, USA 8 Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of ...
Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is ...
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 ...
Correspondence to Ji Li-Juan, Department of Rehabilitation, The Second People's Hospital of Huai'an, Huai'an 223301, China; (188@whu.edu.cn), or Xu Jiang (luzg88@163.com) Pseudogenes were initially ...
Bipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) ranging from extreme elation, or mania, ...
1 Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK 2 Chemical Pathology, Great Ormond Street Hospital for ...
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