|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
|
25707398 |
2016 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
|
26922654 |
2016 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
|
25920557 |
2015 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.
|
23512985 |
2013 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.
|
22918246 |
2012 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
|
23099646 |
2012 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.
|
21204217 |
2011 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
|
21294719 |
2011 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.
|
19383720 |
2009 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Function and regulation of Dyrk1A: towards understanding Down syndrome.
|
19685005 |
2009 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
|
18405873 |
2008 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.
|
18364031 |
2008 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.
|
17237124 |
2007 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.
|
12814361 |
2003 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.
|
12192061 |
2002 |
|
rs1555985620
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.
|
2143053 |
1990 |