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Article

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

Clinical genetics - 1 Mar 2011

van Bon B W M, Hoischen A, Hehir-Kwa J, de Brouwer A P M, Ruivenkamp C, Gijsbers A C J, Marcelis C L, de Leeuw N, Veltman J A, Brunner H G, de Vries B B A

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Share to Dyrk Kinases
Share to Gene Deletion
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Intellectual Disability

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Identifiers

PMID: 21294719
DOI: 10.1111/j.1399-0004.2010.01544.x

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Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.PMID 21294719Read ↗

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.Semantic proximity Read ↗

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literatureSemantic proximity Read ↗

Function and regulation of Dyrk1A: towards understanding Down syndromeSemantic proximity Read ↗

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.Semantic proximity Read ↗

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Semantic proximity Read ↗

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.Semantic proximity Read ↗

DYRK1A mutations in two unrelated patients.Semantic proximity Read ↗

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.Semantic proximity Read ↗

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic FeaturesSemantic proximity Read ↗

Engineering DYRK1A overdosage yields Down syndrome-characteristic cortical splicing aberrationsSemantic proximity Read ↗

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Semantic proximity Read ↗

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.Semantic proximity Read ↗

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