Meckel-Gruber syndrome
|
0.430 |
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
|
0.430 |
Biomarker
|
disease |
BEFREE |
The purpose of this study is to describe the importance of the TZ component Meckel-Grüber syndrome 6 ( Mks6) in several organ systems and tissues regarding ciliogenesis and cilia maintenance using congenital and conditional mutant mouse models.
|
30133325 |
2019 |
Meckel-Gruber syndrome
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding.
|
25920555 |
2016 |
Meckel-Gruber syndrome
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
|
19777577 |
2009 |
Meckel-Gruber syndrome
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
|
18950740 |
2008 |
Meckel-Gruber syndrome
|
0.430 |
GeneticVariation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Meckel-Gruber syndrome
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
Meckel-Gruber syndrome
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
|
23012439 |
2012 |
Meckel-Gruber syndrome
|
0.430 |
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
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |
Meckel-Gruber syndrome
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Meckel-Gruber syndrome
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
Meckel-Gruber syndrome
|
0.430 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
|
19466712 |
2009 |
Meckel-Gruber syndrome
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.
|
24706459 |
2014 |
Meckel-Gruber syndrome
|
0.430 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
|
19466712 |
2009 |
Meckel-Gruber syndrome
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.
|
27082236 |
2015 |
Meckel-Gruber syndrome
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
|
22241855 |
2012 |