Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

Model-based detection of alternative splicing signals

(2010) Yoseph Barash et al.   BIOINFORMATICS

Chromatin density and splicing destiny: on the cross-talk between chromatin structure and splicing

(2010) Schraga Schwartz et al.   EMBO JOURNAL

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies

(2010) Ashish Dhir et al.   FEBS Journal

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

(2010) Sandie Le Guédard-Méreuze et al.   HUMAN MUTATION

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

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

Synthesis-dependent microhomology-mediated end joining accounts for multiple types of repair junctions

(2010) Amy Marie Yu et al.   NUCLEIC ACIDS RESEARCH

Genomic rearrangements in inherited disease and cancer

(2010) Jian-Min Chen et al.   SEMINARS IN CANCER BIOLOGY

Transposable elements in disease-associated cryptic exons

(2009) Igor Vorechovsky   HUMAN GENETICS

Regional genomic instability predisposes to complex dystrophin gene rearrangements

(2009) Junko Oshima et al.   HUMAN GENETICS

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

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

(2009) Kevin M. Flanigan et al.   HUMAN MUTATION

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

(2008) Matteo Bovolenta et al.   BMC GENOMICS

Microarray-based mutation detection in thedystrophingene

(2008) Madhuri R. Hegde et al.   HUMAN MUTATION

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

(2008) Akanchha Kesari et al.   HUMAN MUTATION

Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping

(2008) Heidi R. Madden et al.   HUMAN MUTATION

Tau exon 10 alternative splicing and tauopathies

(2008) Fei Liu et al.   Molecular Neurodegeneration

DMDpseudoexon mutations: splicing efficiency, phenotype, and potential therapy

(2007) Olga L. Gurvich et al.   ANNALS OF NEUROLOGY