Review of genotype-phenotype correlations in Usher syndrome
E Nisenbaum, TP Thielhelm, A Nourbakhsh… - Ear and …, 2022 - journals.lww.com
Usher syndrome (USH) encompasses a group of clinically and genetically heterogenous
disorders defined by the triad of sensorineural hearing loss (SNHL), vestibular dysfunction …
disorders defined by the triad of sensorineural hearing loss (SNHL), vestibular dysfunction …
[HTML][HTML] Comment on De Rosa et al. Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America. Genes 2024, 15, 178
AB Elgoyhen, PI Buonfiglio, V Dalamón - Genes, 2024 - mdpi.com
Comment on De Rosa et al. Hearing Loss: Genetic Testing, Current Advances and the Situation in
Latin America. Genes 2024, 15, 178 Next Article in Journal Optical Genome Mapping Reveals …
Latin America. Genes 2024, 15, 178 Next Article in Journal Optical Genome Mapping Reveals …
Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese …
L Zhang, J Cheng, QI Zhou, MA Khan, J Fu… - Frontiers in …, 2020 - frontiersin.org
Usher syndrome includes a group of genetically and clinically heterogeneous autosomal
recessive diseases, such as retinitis pigmentosa (RP) and sensorineural hearing loss. Usher …
recessive diseases, such as retinitis pigmentosa (RP) and sensorineural hearing loss. Usher …
Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients
B Jin, J Li, Q Yang, X Tang, C Wang, Y Zhao, F Zheng… - Gene, 2023 - Elsevier
The study aimed to screen for the causative variants in Chinese patients with suspected
retinitis pigmentosa (RP). A cohort of 75 unrelated Chinese patients with a clinical diagnosis …
retinitis pigmentosa (RP). A cohort of 75 unrelated Chinese patients with a clinical diagnosis …
[HTML][HTML] Sensorineural hearing loss due to a novel mutation in the PCDH15 gene: A case study
Sensory deafness is a disorder with a broad spectrum of phenotypes. It is associated with
genetic heterogeneity, thus making sequential single-gene testing an impractical basis for …
genetic heterogeneity, thus making sequential single-gene testing an impractical basis for …
[HTML][HTML] Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review
LS Peart, M Tekin - Balkan Medical Journal, 2024 - ncbi.nlm.nih.gov
The Caribbean region has a diverse population of about 40 million people, spread over 13
sovereign states. This review aims to describe the existing studies on hereditary hearing …
sovereign states. This review aims to describe the existing studies on hereditary hearing …
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with …
Y Xiang, C Xu, Y Xu, L Zhou, S Tang… - Journal of Clinical …, 2022 - Wiley Online Library
Background Variants in the MYO7A gene are increasingly identified among patients
suffering from Usher syndrome type 1B (USH1B). However, such mutations are less …
suffering from Usher syndrome type 1B (USH1B). However, such mutations are less …
Reply to Elgoyhen et al. Comment on" De Rosa et al. Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America. Genes 2024, 15, 178".
K Walz - Genes, 2024 - search.ebscohost.com
Abstract The article" Reply to Elgoyhen et al. Comment on'De Rosa et al. Hearing Loss:
Genetic Testing, Current Advances and the Situation in Latin America'" acknowledges the …
Genetic Testing, Current Advances and the Situation in Latin America'" acknowledges the …
[HTML][HTML] Homology modeling and global computational mutagenesis of human myosin VIIa
A Kuppa, YV Sergeev - Journal of analytical & pharmaceutical …, 2021 - ncbi.nlm.nih.gov
Usher syndrome type 1B (USH1B) is a genetic disorder caused by mutations in the
unconventional Myosin VIIa (MYO7A) protein. USH1B is characterized by hearing loss due …
unconventional Myosin VIIa (MYO7A) protein. USH1B is characterized by hearing loss due …