Background Heterozygous PURA (Purine-rich element-binding protein A) variants cause PURA syndrome, a neurodevelopmental disorder characterised by hypotonia, seizures and intellectual disability.
2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
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 ...
Correspondence to Dr Ricardo Rodriguez-Calvo and Professor Luis Masana, Vascular Medicine and Metabolism Unit, Research Unit on Lipids and Atherosclerosis, ‘Sant Joan’ University Hospital, Universitat ...
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 Wendy Chung, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; wkc15{at}cumc.columbia.edu Background SLC6A1 encodes GAT-1, a major ...
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; ...
A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-1 can be characterised by a proportionate reduction of the middle ...
Correspondence to Professor Diego A Forero, Laboratory of Neuropsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, 110231, Colombia; diego ...
Original research: Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study ...
Correspondence to: Dr S Mansour, South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK; smansour{at}sghms.ac.uk Five patients ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results
Feedback