Meckel-Gruber syndrome
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation.
|
30705305 |
2019 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
|
28719906 |
2017 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
|
28431631 |
2017 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: genotyping a Northern European patient cohort.
|
25920555 |
2016 |
Meckel-Gruber syndrome
|
0.630 |
GeneticVariation
|
disease |
CLINVAR |
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
|
26729329 |
2016 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
|
26729329 |
2016 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Meckel-Gruber syndrome
|
0.630 |
Biomarker
|
disease |
BEFREE |
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
|
26035863 |
2015 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
|
26035863 |
2015 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
|
23559409 |
2013 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
|
21068128 |
2011 |
Meckel-Gruber syndrome
|
0.630 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.
|
21110233 |
2011 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
21866095 |
2011 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
|
20232449 |
2010 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
|
20607301 |
2010 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
|
19540516 |
2009 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
Meckel-Gruber syndrome
|
0.630 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
|
19466712 |
2009 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
|
19058225 |
2009 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
|
17377820 |
2007 |
Meckel-Gruber syndrome
|
0.630 |
GermlineCausalMutation
|
disease |
ORPHANET |
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
|
17389183 |
2007 |
Meckel-Gruber syndrome
|
0.630 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
|
17397051 |
2007 |
Meckel-Gruber syndrome
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
|
16415887 |
2006 |
Meckel-Gruber syndrome
|
0.630 |
Biomarker
|
disease |
RGD |
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
|
16415887 |
2006 |