Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
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Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literatureDrosophila Dyrk2 plays a role in the development of the visual systemNew targets to treat obesity and the metabolic syndrome.DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.Gene dosage-dependent association of DYRK1A with the cytoskeleton in the brain and lymphocytes of down syndrome patients.Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.A systematic review of genetic syndromes with obesity.One-carbon cycle alterations induced by Dyrk1a dosage.Dyrk1A induces pancreatic β cell mass expansion and improves glucose tolerance.Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down SyndromeCorrection of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A
P2860
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P2860
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
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2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Distinctive Phenotypic Abnorma ...... q22 Deletion Including DYRK1A.
@ast
Distinctive Phenotypic Abnorma ...... q22 Deletion Including DYRK1A.
@en
type
label
Distinctive Phenotypic Abnorma ...... q22 Deletion Including DYRK1A.
@ast
Distinctive Phenotypic Abnorma ...... q22 Deletion Including DYRK1A.
@en
prefLabel
Distinctive Phenotypic Abnorma ...... q22 Deletion Including DYRK1A.
@ast
Distinctive Phenotypic Abnorma ...... q22 Deletion Including DYRK1A.
@en
P2093
P2860
P356
P1476
Distinctive Phenotypic Abnorma ...... q22 Deletion Including DYRK1A.
@en
P2093
A J Verkerk
A de Klein
G M S Mancini
I F M de Coo
I van der Laar
M H Lequin
P2860
P304
P356
10.1159/000320113
P577
2010-09-14T00:00:00Z