The importance of genetic diagnosis for Duchenne muscular dystrophy
A Aartsma-Rus, IB Ginjaar, K Bushby - Journal of medical genetics, 2016 - jmg.bmj.com
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by
mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most …
mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most …
Exome sequencing: dual role as a discovery and diagnostic tool
Recent developments in high‐throughput sequence capture methods and next‐generation
sequencing technologies have now made exome sequencing a viable approach to …
sequencing technologies have now made exome sequencing a viable approach to …
[图书][B] Duchenne muscular dystrophy
AEH Emery, F Muntoni, R Quinlivan - 2015 - books.google.com
Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is
one of the most common single gene disorders found in the developed world. In this fourth …
one of the most common single gene disorders found in the developed world. In this fourth …
Next‐generation sequencing: ready for the clinics?
AN Desai, A Jere - Clinical genetics, 2012 - Wiley Online Library
Desai AN, Jere A. Next‐generation sequencing: ready for the clinics? Next‐generation
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …
Clinical significance of large rearrangements in BRCA1 and BRCA2
T Judkins, E Rosenthal, C Arnell, LA Burbidge… - Cancer, 2012 - Wiley Online Library
BACKGROUND: Current estimates of the contribution of large rearrangement (LR) mutations
in the BRCA1 (breast cancer 1, early onset) and BRCA2 (breast cancer 2, early onset) …
in the BRCA1 (breast cancer 1, early onset) and BRCA2 (breast cancer 2, early onset) …
[HTML][HTML] Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited
neuromuscular disease. The genetic diagnosis is not easily made because of the large size …
neuromuscular disease. The genetic diagnosis is not easily made because of the large size …
The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic
basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of …
basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of …
[HTML][HTML] EMQN best practice guidelines for genetic testing in dystrophinopathies
C Fratter, R Dalgleish, SK Allen, R Santos… - European Journal of …, 2020 - nature.com
Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and
Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of …
Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of …
Role of CRISPR/Cas9 in the treatment of Duchenne muscular dystrophy and its delivery strategies
Duchenne muscular dystrophy (DMD) is a neuromuscular disorder brought on by mutations
in the DMD gene, which prevent muscle cells from expressing the dystrophin protein …
in the DMD gene, which prevent muscle cells from expressing the dystrophin protein …
Applying cystic fibrosis transmembrane conductance regulator genetics and CFTR2 data to facilitate diagnoses
PR Sosnay, DB Salinas, TB White, CL Ren… - The Journal of …, 2017 - Elsevier
Objective As a Mendelian disease, genetics plays an integral role in the diagnosis of cystic
fibrosis (CF). The identification of 2 disease-causing mutations in the CF transmembrane …
fibrosis (CF). The identification of 2 disease-causing mutations in the CF transmembrane …