Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

(2010) Elena Aller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2010) Ashish Dhir et al.   FEBS Journal

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

(2010) William J Kimberling et al.   GENETICS IN MEDICINE

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

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

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

(2010) Christel Vaché et al.   HUMAN MUTATION

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

(2010) Inga Ebermann et al.   JOURNAL OF CLINICAL INVESTIGATION

Present and future of antisense therapy for splicing modulation in inherited metabolic disease

(2010) Belen Pérez et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Nanotechnologies and controlled release systems for the delivery of antisense oligonucleotides and small interfering RNA

(2009) Elias Fattal et al.   BRITISH JOURNAL OF PHARMACOLOGY

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

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