|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
|
29034068 |
2017 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
|
28053047 |
2017 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
|
27241786 |
2016 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
GeneticVariation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
|
26922654 |
2016 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
|
25707398 |
2016 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
GeneticVariation |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
GeneticVariation |
CLINVAR |
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
|
25920557 |
2015 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
DYRK1A mutations in two unrelated patients.
|
25641759 |
2015 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
|
25920557 |
2015 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
GeneticVariation |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
|
| Entrez Id: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation |
CLINVAR |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
|
23160955 |
2012 |