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 |
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 |
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 |
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 |
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.
|
25425308 |
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 |
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 |
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 |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
|
25262649 |
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 |
CausalMutation
|
disease |
CLINVAR |
The molecular basis of retinal dystrophies in pakistan.
|
24705292 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
|
24618850 |
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 |
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 |
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 |
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 |
Usher Syndrome, Type IF
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23).
|
22815625 |
2012 |