|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.
|
27743452 |
2017 |
|
Usher Syndrome, Type IF
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
|
27440999 |
2016 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
|
26791358 |
2016 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
|
26445815 |
2015 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
|
26166082 |
2015 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
|
25575603 |
2015 |
|
Usher Syndrome, Type IF
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
|
25307757 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
|
24618850 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
|
25307757 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.
|
25425308 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
|
25262649 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
Biomarker
|
disease |
MGD |
The circling mutant Pcdh15roda is a new mouse model for hearing loss.
|
24044941 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
|
25404053 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
|
24618850 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.
|
24940003 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
The molecular basis of retinal dystrophies in pakistan.
|
24705292 |
2014 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.
|
23451239 |
2013 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F).
|
22690115 |
2012 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
Usher Syndrome, Type IF
|
0.870 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.
|
23135401 |
2012 |
|
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23).
|
22815625 |
2012 |
|
Usher Syndrome, Type IF
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23).
|
22815625 |
2012 |