Associated Papers
Overlap of Congenital Deafness and Long QT Syndrome With Distinct Genetic Basis: A Diagnostic Challenge.
Pirah R et al.
Jacc. Case Reports, 2025
PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models.
Ivanchenko MV et al.
The Journal of Clinical Investigation, 2024
PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F.
Ivanchenko MV et al.
Biorxiv : the Preprint Server for Biology, 2023
Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.
Ivanchenko MV et al.
Nature Communications, 2023
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.
Kletke S et al.
Clinical Genetics, 2017
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
Wu H et al.
Plos One, 2016
In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.
Saleha S et al.
International Journal of Ophthalmology, 2016
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
Zhan Y et al.
International Journal of Pediatric Otorhinolaryngology, 2015
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
Krawitz PM et al.
Molecular Genetics & Genomic Medicine, 2014
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
Jaijo T et al.
Molecular Vision, 2012
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Doucette L et al.
European Journal of Human Genetics : Ejhg, 2009
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
Ahmed ZM et al.
Human Genetics, 2008
Development of a genotyping microarray for Usher syndrome.
Cremers FP et al.
Journal of Medical Genetics, 2007
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
Ahmed ZM et al.
Human Molecular Genetics, 2003
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E et al.
Ear and Hearing, 0