Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort-Reference-Cited by-同舟云学术

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Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

Published:2005 Issue:3 Volume:134A Page:295-298
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dent K.M.,Dunn D.M.,von Niederhausern A.C.,Aoyagi A.T.,Kerr L.,Bromberg M.B.,Hart K.J.,Tuohy T.,White S.,den Dunnen J.T.,Weiss R.B.,Flanigan K.M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.30617/fullpdf

Reference19 articles.

1. Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.

2. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

3. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

4. 1990. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In: editors. PCR protocols: A guide to methods and applications. San Francisco: Academic Press. pp 272-281.

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1. Targeted Pseudouridylation Identifies a Novel Ψ-Ψ Codon-Anticodon Pairing in Nonsense Suppression and Translational Recoding;2024

2. Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model;Molecular Therapy - Methods & Clinical Development;2023-12

3. Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene;International Journal of Molecular Sciences;2023-09-28

4. Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls;International Journal of Molecular Sciences;2023-09-01

5. Advances in Dystrophinopathy Diagnosis and Therapy;Biomolecules;2023-08-28

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