Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The secondary aim was to screen for novel mutations in the coding sequence of the MKS1 gene of MKS fetuses and to obtain genotype-phenotype correlations where possible.
|
17935508 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
|
17437276 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The coding regions of MKS1 and MKS3 were screened for mutations by direct sequencing in 17 families clinically diagnosed with MKS in the US or The Netherlands.
|
17377820 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our first results indicate that the MKS1 and MKS3 genes are each responsible for about 7% of MKS cases with various mutations in different populations.
|
17397051 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
|
17397051 |
2007 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The coding regions of MKS1 and MKS3 were screened for mutations by direct sequencing in 17 families clinically diagnosed with MKS in the US or The Netherlands.
|
17377820 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that MKS1 mutations are not restricted to the Caucasian gene pool and suggest further genetic heterogeneity for MKS.
|
17437276 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
Meckel syndrome type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
A Meckel syndrome critical region (MKS1) maps to human Chromosome (Chr) 17, in a region of homology to mouse Chr 11.
|
15112103 |
2004 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The effect of superinfection by T4r+ coliphage on the deoxyribonucleeases of induced Escherichia coli Y10.
|
4886560 |
1969 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Meckel syndrome type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|