The DOI matches its Crossref record; 15 of the 17 references it cites were found in a registry or an index.
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly
Abstract
Supporting Information The following Supporting information is available for this article: Table S1. SYBR Green-based genomic real-time quantitative PCR (qPCR) was performed on a 7500 Fast Real-Time PCR System by using Power SYBR Green PCR Master Mix (both Applied Biosystems, Foster City, CA) according to the manufacturer's instructions. Primers were developed by the primer3 program (http://frodo.wi.mit.edu/cgi-bin/primer3/primer3_www.cgi). Copy numbers were measured relative to one reference gene: SLC16A2. Additional Supporting information may be found in the online version of this article. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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“Mutations in DYRK1A and TCF4 cause syndromic diseases presenting with microcephaly and intellectual disability97–105.”
From Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders (2017) · cites this paper as [103]
In the citing paper
“Another striking candidate is DYRK1A (dual-specificity tyrosine phosphorylation-regulated kinase 1A), for which three truncating mutations have been discovered in autism probands [24,44] and de novo structural variants in ID probands [54,55].”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [54]
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Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
Møller, R. S., Kübart, S., Hoeltzenbein, M., Heye, B., Vogel, I., Hansen, C. P., Menzel, C., Ullmann, R., Tommerup, N., Ropers, H.-H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.03.001 · Cited by 163
The protein kinase DYRK1A regulates caspase-9-mediated apoptosis during retina development.
Laguna, A., Aranda, S., Barallobre, M., Barhoum, R., Fernández, E., Fotaki, V., Delabar, J., de la Luna, S., de la Villa, P., & Arbonés, M. (2008) · Developmental Cell · doi:10.1016/j.devcel.2008.10.014 · Cited by 131
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
Ronan, A., Fagan, K., Christie, L., Conroy, J. M., Nowak, N. J., & TURNER, G. M. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.047373 · Cited by 122
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A Molecular Genetic Study of Autosomal Recessive Primary Microcephaly in three Pakistani Kindred
Nawab, R., & Irshad, S. (2012) · Basic Sciences of Medicine · doi:10.5923/j.medicine.20120103.01
Delving into the genetic causes of language impairment in people with partial deletions of NRXN1Preprint
Benítez‐Burraco, A., Jiménez-Romero, M. S., & Fernández-Urquiza, M. (2022) · doi:10.31234/osf.io/aw25n
Fonseca, A. C. D. S. (2016) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2016.tde-05052016-112830
Pijuan, I., Balducci, E., Soto‐Sánchez, C., Fernández, E., Barallobre, M. J., & Arbonés, M. L. (2022) · Research Square · doi:10.21203/rs.3.rs-1925334/v1
DYRK1A-related intellectual disability syndrome: a cohort of Portuguese patients
Sousa, A. B., Medeira, A., Rodrigues-Alves, J., Dupont, J., Rodrigues, M., Moldovan, O., Dias, P., & Gouveia, R. (2024) · Portuguese Journal of Pediatrics · doi:10.24875/pjp.m23000130
Gholizadeh, M. A., Behjati, F., Firouzabadi, S. G., Heidari, E., Razmara, E., Almadani, N., Sharifi‐Zarchi, A., & Garshasbi, M. (2024) · Neurogenetics · doi:10.1007/s10048-024-00768-6
Rea, H. M., Webb, S. J., Kurtz‐Nelson, E. C., Hudac, C. M., Bernier, R., Miles, C., Earl, R. K., Whiting, A., Eayrs, C., Johansson, M., et al. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1485499
Glass, O. K., Piton, A., & Pfalzer, A. C. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1803346
Craniofacial analysis of Down syndrome rodent models
Saavedra, J. T. A. (2024) · theses.fr (ABES) · doi:10.70675/064b45abz323ez478ez93ddz8ce0747170c2
Orchestrating mitochondrial protein import: The emerging role of DYRK1A in health and disease
Shankar, S., & Meisinger, C. (2026) · Protein Science · doi:10.1002/pro.70631
Jorge, L., Oliveira, J., Canário, N., Afonso, S., Quental, H., & Castelo-Branco, M. S. (2026) · Acta Psychologica · doi:10.1016/j.actpsy.2026.107658
Velázquez, R., Bartholomew, S. K., Winslow, W., Tallino, S., Foley, C., Shaw, Y., Rokey, S., Judd, J. M., Beach, T., Serrano, G. E., et al. (2026) · Research Square · doi:10.21203/rs.3.rs-10733156/v1
Plećaš, A., Gough, G., Kunštek, S., Babić, M., Murray, A., Nižetić, D., & Alić, I. (2026) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2026.1963992
Clinical, genetic and functional characterization of intellectual disability disorders
Zweier, C. (2014) · Radboud Repository (Radboud University)
Metadata
- Authors
- van Bon, B., Hoischen, A., Hehir-Kwa, J., de Brouwer, A., Ruivenkamp, C., Gijsbers, A., Marcelis, C., de Leeuw, N., Veltman, J., Brunner, H., & de Vries, B.
- Affiliations
- Leiden University Medical Center (NL)
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2011-02-07
- Volume
- 79
- Issue
- 3
- Pages
- 296-299
- ISSN
- 0009-9163 (ISSN-L)
- OpenAlex
- W1979702680
- Cited by
- 117
- References
- 17
- Citations by year
- 2026: 6 · 2025: 5 · 2024: 7 · 2023: 7 · 2022: 8 · 2021: 8 · 2020: 5 · 2019: 8 · 2018: 6 · 2017: 9 · 2016: 9 · 2015: 12 · 2014: 11 · 2013: 5 · 2012: 10
- FWCI
- 5.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- DYRK1A, intragenic deletion, intellectual disability, primary microcephaly, copy number variation, SLC16A2, real-time quantitative PCR
- MeSH terms
- Dyrk Kinases, Adult, Child, Female, Heterozygote, Humans, Infant, Male, Intellectual Disability, Microcephaly, Phenotype, Protein-Tyrosine Kinases, Protein Serine-Threonine Kinases, Gene Deletion, Genetic Association Studies
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