Associated Papers
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
40725402 (PubMed )
Supplement: genes-16-00745-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS27_het
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1
A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.
Ouarhache M et al.
Molecular Biology Reports, 2024
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Shalom S et al.
Genes, 2024
38790275 (PubMed )
Supplement: genes-15-00646-s001.zip › genes-2989680-supplementary › Supp_Table_S1_-_primers_list.xlsx › ______1
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L et al.
International Journal of Molecular Sciences, 2021
34948090 (PubMed )
Supplement: ijms-22-13294-s001.zip › supplementary_tables › TableS1.xlsx › Feuil1
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Khalaileh A et al.
Investigative Ophthalmology & Visual Science, 2018
Four-year follow-up of diagnostic service in USH1 patients.
Roux AF et al.
Investigative Ophthalmology & Visual Science, 2011
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
Rizel L et al.
Molecular Vision, 2011
Two Finnish USH1B patients with three novel mutations in myosin VIIA.
Vastinsalo H et al.
Molecular Vision, 2006
Myosins and deafness.
Redowicz MJ
Journal of Muscle Research and Cell Motility, 1999
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
Janecke AR et al.
Human Mutation, 1999
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
Lévy G et al.
Human Molecular Genetics, 1997
Select a paper to view details