Usher syndrome: clinical features, molecular genetics and advancing therapeutics
M Toms, W Pagarkar… - Therapeutic advances in …, 2020 - journals.sagepub.com
Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …
[HTML][HTML] The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
S Delmaghani, A El-Amraoui - Human Genetics, 2022 - Springer
Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …
An update on the genetics of usher syndrome
JM Millán, E Aller, T Jaijo, F Blanco-Kelly… - Journal of …, 2011 - Wiley Online Library
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss,
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
PLQ Stabej, Z Saihan, N Rangesh… - Journal of medical …, 2012 - jmg.bmj.com
Background Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis
pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and …
pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and …
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
J Reiners, K Nagel-Wolfrum, K Jürgens, T Märker… - Experimental eye …, 2006 - Elsevier
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …
[HTML][HTML] An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
C Bonnet, Z Riahi, S Chantot-Bastaraud… - European Journal of …, 2016 - nature.com
Usher syndrome (USH), the most prevalent cause of hereditary deafness–blindness, is an
autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes …
autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes …
Genetics of Usher syndrome: new insights from a meta-analysis
G Jouret, C Poirsier, M Spodenkiewicz… - Otology & …, 2019 - journals.lww.com
Objective: To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years
of studies by next-generation sequencing, and propose an up-to-date classification of Usher …
of studies by next-generation sequencing, and propose an up-to-date classification of Usher …
[HTML][HTML] Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I
LM Astuto, MD Weston, CA Carney, DM Hoover… - The American Journal of …, 2000 - cell.com
Usher syndrome type I is an autosomal recessive disorder marked by hearing loss,
vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A …
vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A …
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
XM Ouyang, D Yan, LL Du, JF Hejtmancik… - Human genetics, 2005 - Springer
Usher syndrome type I (USH1), the most severe form of this syndrome, is characterized by
profound congenital sensorineural deafness, vestibular dysfunction, and retinitis …
profound congenital sensorineural deafness, vestibular dysfunction, and retinitis …
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 …
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