Tay-Sachs Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
|
24767253 |
2014 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.
|
24374108 |
2014 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular study of lysosomal storage disorders in India.
|
24940364 |
2014 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
|
24767253 |
2014 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Three novel mutations in Iranian patients with Tay-Sachs disease.
|
24518553 |
2014 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.
|
24498621 |
2013 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
|
22441121 |
2012 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.
|
22723944 |
2012 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.
|
22723944 |
2012 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
|
23035047 |
2012 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
|
23035047 |
2012 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
|
22441121 |
2012 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
|
22441121 |
2012 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.
|
22723944 |
2012 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.
|
22723944 |
2012 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the complete HEXA gene in 34 Spanish patients with Tay-Sachs disease and the HEXB gene in 14 Spanish patients with Sandhoff disease.
|
22789865 |
2012 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A systematic survey of loss-of-function variants in human protein-coding genes.
|
22344438 |
2012 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
|
21967858 |
2011 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |