|
rs143141689
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS).
|
25689043 |
2015 |
|
rs143141689
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS).
|
25689043 |
2015 |
|
rs143141689
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
|
23516378 |
2013 |
|
rs143141689
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
|
22333897 |
2012 |
|
rs143141689
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.
|
22855792 |
2012 |
|
rs143141689
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
|
21358633 |
2011 |
|
rs864309486
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
|
rs864309487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
|
rs864309488
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
|
rs387906917
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
|
22333897 |
2012 |
|
rs387906917
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
|
23023959 |
2012 |
|
rs387906917
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
|
21358632 |
2011 |
|
rs1437544261
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two apparently unrelated families with identical homozygous c.631C > T p.(Arg211Cys) variant had clinical features typical of Meier-Gorlin syndrome (MGS), while two siblings with compound heterozygous c.346delG p.(Asp116Ile*62) and c.1349A > G p.(Lys450Arg) variants presented with Seckel-like phenotype.
|
31407851 |
2019 |
|
rs774052186
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two apparently unrelated families with identical homozygous c.631C > T p.(Arg211Cys) variant had clinical features typical of Meier-Gorlin syndrome (MGS), while two siblings with compound heterozygous c.346delG p.(Asp116Ile*62) and c.1349A > G p.(Lys450Arg) variants presented with Seckel-like phenotype.
|
31407851 |
2019 |
|
rs374279734
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS).
|
25689043 |
2015 |
|
rs4680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was no statistically significant association between genotype and allele frequencies of DRD2, SLC6A3, or COMT polymorphisms and the development of particular EPSs.In conclusion, the results of the present study showed for the first time the association between acute haloperidol-induced EPSs and SLC6A3 VNTR and COMT Val158Met polymorphisms.
|
23963056 |
2013 |
|
rs167771
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One SNP of the DRD3 gene, rs167771</span>, achieved significant association with EPS risk after Bonferroni correction (nominal P-value 1.3 x 10(-4)) in the patients treated with risperidone (132 patients).
|
19506579 |
2009 |
|
rs1445081098
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The relationship is examined of the dopamine D2 receptor (DRD2) polymorphism (TaqIA, TaqIB, -141 C Ins/Del) and the catechol-O-methyltransferase (COMT) polymorphism (A-278G, G158A) to the risk of antipsychotic-induced extrapyramidal symptoms (EPS) in schizophrenia and bipolar disorders.
|
18922583 |
2008 |
|
rs6277
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified seven SNP(single nucleotide polymorphism) (-141Cins>del, TaqIB, TaqID, Ser311Cys, rs6275, rs6277 and TaqIA) in the DRD2 gene in 146 schizophrenic inpatients (59 with EPS and 87 without EPS according to the Simpson-Angus Scale) treated with chlorpromazine after 8 weeks.
|
16867246 |
2006 |