Mainzer-Saldino Disease
|
0.930 |
Biomarker
|
disease |
MGD |
|
|
|
Mainzer-Saldino Disease
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Mainzer-Saldino Disease
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
|
22503633 |
2012 |
Mainzer-Saldino Disease
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
|
22503633 |
2012 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
|
22503633 |
2012 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
|
22503633 |
2012 |
Mainzer-Saldino Disease
|
0.930 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
|
22503633 |
2012 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
|
24009529 |
2013 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome.
|
24698627 |
2014 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer-Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel.
|
23418020 |
2013 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer-Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel.
|
23418020 |
2013 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer-Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel.
|
23418020 |
2013 |
Mainzer-Saldino Disease
|
0.930 |
Biomarker
|
disease |
BEFREE |
Intersection of the proband's phenotypes with known disease genes within the homozygous region yielded a single candidate, IFT140, encoding a retrograde intraflagellar transport protein implicated previously in several ciliopathies, including the phenotypically overlapping Mainzer-Saldino syndrome (MZSDS).
|
28724397 |
2017 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Intersection of the proband's phenotypes with known disease genes within the homozygous region yielded a single candidate, IFT140, encoding a retrograde intraflagellar transport protein implicated previously in several ciliopathies, including the phenotypically overlapping Mainzer-Saldino syndrome (MZSDS).
|
28724397 |
2017 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Intersection of the proband's phenotypes with known disease genes within the homozygous region yielded a single candidate, IFT140, encoding a retrograde intraflagellar transport protein implicated previously in several ciliopathies, including the phenotypically overlapping Mainzer-Saldino syndrome (MZSDS).
|
28724397 |
2017 |
Mainzer-Saldino Disease
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Mutations in human IFT140 cause non-syndromic retinal degeneration.
|
26216056 |
2015 |
Mainzer-Saldino Disease
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
|
28288023 |
2017 |