Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
MGD |
The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: ultrastructural observations.
|
6627025 |
1983 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of three different genes responsible for USH1.USH1B maps to 11q13.5 (ref.
|
7870171 |
1995 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Of three different genes responsible for USH1.USH1B maps to 11q13.5 (ref.
|
7870171 |
1995 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Of three different genes responsible for USH1.USH1B maps to 11q13.5 (ref.
|
7870171 |
1995 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A type VII myosin encoded by the mouse deafness gene shaker-1.
|
7870172 |
1995 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.
|
8622919 |
1996 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Usher syndrome type I (US1) is an autosomal recessive condition in which three different genes have been already localised (USH1A, USH1B, and USH1C on chromosomes 14q32, 11q13, and 11p15 respectively).
|
8825055 |
1996 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
|
8900236 |
1996 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
|
8900236 |
1996 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
|
8900236 |
1996 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Four loci responsible for USH1 (USH1A, 1B, 1C and 1D) have previously been mapped, among which only the USH1B gene has been cloned.
|
9002666 |
1997 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1.
|
9002678 |
1997 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1.
|
9002678 |
1997 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1.
|
9002678 |
1997 |
Usher Syndrome, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.
|
9171832 |
1997 |
Usher Syndrome, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
|
9382091 |
1997 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
|
9382091 |
1997 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
|
9382091 |
1997 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
MGD |
Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells.
|
9435277 |
1998 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
With regard to Usher type I (USH1), several subtypes have been described, the most frequent being USH1B located on chromosome 11q13.5.
|
9610802 |
1998 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
MGD |
Mutation analysis of the mouse myosin VIIA deafness gene.
|
9680294 |
1997 |
Usher Syndrome, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.
|
9718356 |
1998 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.
|
9718356 |
1998 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
|
9843659 |
1998 |