Condition: Muscular Dystrophy, Duchenne


rs17567824 in ADCY1 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

rs12547243 in ADCY8 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

rs1010666282 in DMD gene and Muscular Dystrophy, Duchenne PMID 25244321 2014 Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.

PMID 10464635 1997 Dystrophin point mutation screening using a multiplexed protein truncation test.

PMID 20485447 2010 Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

PMID 21399986 2011 Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

PMID 9760747 1998 Hansenula anomala as spoilage agent of cream-filled cakes.

PMID 21396098 2011 Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

PMID 25007885 2014 New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

PMID 16770791 2006 Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

PMID 27593222 2017 Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.

PMID 19937601 2009 Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

PMID 10196701 1999 Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 28859693 2017 Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

PMID 19760747 2009 Exon skipping-mediated dystrophin reading frame restoration for small mutations.

PMID 17726484 2008 Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

PMID 17259292 2007 Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

PMID 25972034 2015 DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

PMID 19959795 2010 One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

PMID 17041906 2007 Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

PMID 21515508 2011 A population-based study of dystrophin mutations in Canada.

PMID 16566881 2006 Diagnostic strategy for the detection of dystrophin gene mutations in asian patients and carriers using immortalized cell lines.

PMID 16049303 2005 Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

PMID 15351422 2004 The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

PMID 22223181 2012 Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

PMID 17854090 2008 Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.

PMID 27930565 2016 A case report with the peculiar concomitance of 2 different genetic syndromes.

PMID 19206170 2009 DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 19793655 2009 DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.

PMID 23536893 2013 Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

PMID 21969337 2011 Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

PMID 10909857 2000 Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.

PMID 23453023 2013 MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

PMID 26968818 2018 Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

PMID 18652600 2008 Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.

PMID 23756440 2014 Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.

PMID 9067763 1997 Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.

PMID 2136098 1990 Cannabis diagnosis of patients receiving treatment for cocaine dependence.

PMID 26911353 2016 Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

PMID 14659407 2004 Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

rs11017928 in DOCK1 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

rs2725797 in LINC02694 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

rs754118 in PTPN1 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

rs149640 in RGS6 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

rs710160 in SHKBP1 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

rs74643788 in XYLT1 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.