L Kalman, J Leonard, N Gerry, J Tarleton… - The Journal of Molecular …, 2011 - Elsevier Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked recessive disorders that affect approximately 1 in 3500 and 1 in 20,000 male individuals, respectively. Approximately 65% of patients with DMD have deletions, 7% to 10% have duplications, and 25% to 30% ... Cited by 1 - Related articles - All 5 versions
KM Flanigan, DM Dunn… - Human …, 2011 - Wiley Online Library Nonsense mutations are usually predicted to function as null alleles due to premature termination of protein translation. However, nonsense mutations in the DMD gene, encoding the dystrophin protein, have been associated with both the severe Duchenne Muscular Dystrophy ... Cited by 1 - Related articles - All 2 versions
[PDF] from biomedsearch.comAT Pagnamenta, R Holt, M Yusuf, D Pinto, K Wing… - 2011 - biomedsearch.com Abstract Autism spectrum disorder is a genetically com- plex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to show that rare genic copy number variants (CNVs), possibly acting in tandem, ... View as HTML
[HTML] from pediatricsdigest.mobiHJ McMillan, M Gregas, BT Darras… - Pediatrics, 2011 - Am Acad Pediatrics RESULTS We report 82 enzyme data sets from 46 patients with Duchenne muscular dystrophy (DMD) and 9 with Becker muscular dystrophy. Our results show a linear relationship between serum CPK and serum ALT and AST and a logarithmic relationship between serum ... Related articles - All 4 versions
SM van Westrum, EM Hoogerwaard, L Dekker… - Neurology, 2011 - AAN Enterprises From the Departments of Neurology (SMSvW, TSS, MdV, AJvdK), Cardiology (LD, AAMW), and Human Genetics (NJL), and Clinical Research Unit (RJdH), Academic Medical Centre, University of Amsterdam, Amsterdam; Department of Neurology (EMH), Rijnstate Hospital, Alysis ... Related articles
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