Associated Papers
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss.
Farjami M et al.
Fetal and Pediatric Pathology, 2021
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.
Xia H et al.
Molecular Medicine Reports, 2017
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Dad S et al.
Molecular Genetics & Genomic Medicine, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
van der Velde KJ et al.
Human Mutation, 2013
Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan.
Su MC et al.
International Journal of Pediatric Otorhinolaryngology, 2009
Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function.
Watanabe S et al.
Biochemistry, 2008
Two Finnish USH1B patients with three novel mutations in myosin VIIA.
Vastinsalo H et al.
Molecular Vision, 2006
[Mutation screening in selected exons of myosin 7a gene in prelingual non-syndromic hearing impairment patients].
Hu P et al.
Zhonghua Er Bi Yan Hou Ke Za Zhi, 2004
Unconventional myosins and the genetics of hearing loss.
Friedman TB et al.
American Journal of Medical Genetics, 1999
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
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Weston MD et al.
American Journal of Human Genetics, 1996