ArticleEuropean journal of medical genetics2012
Micro-duplications of 1q32.1 associated with neurodevelopmental delay.
Article in European journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Review
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- Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report.American journal of medical genetics. Part A · 2021Article
- Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.Nature communications · 2020Article
- KIF21B Expression in Osteosarcoma and Its Regulatory Effect on Osteosarcoma Cell Proliferation and Apoptosis Through the PI3K/AKT Pathway.Frontiers in oncology · 2020Article
- Dysregulated CaFrontiers in synaptic neuroscience · 2019Review
- Article
- The Kinesin KIF21B Regulates Microtubule Dynamics and Is Essential for Neuronal Morphology, Synapse Function, and Learning and Memory.Cell reports · 2016Article
- De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.Case reports in genetics · 2016Article
- Abundant kif21b is associated with accelerated progression in neurodegenerative diseases.Acta neuropathologica communications · 2014Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Distal partial trisomies involving the region 1q32 have been associated with dysmorphic features and developmental delay [1-11]. To further define the critical region for developmental delay and to investigate the genotype-phenotype association of 1q trisomy syndrome, we report two patients with much smaller (3 Mb and 3.5 Mb in size) trisomic regions on 1q32.1. The two micro-duplications largely overlap and both patients exhibited cognitive and motor delays. Case 1 is a 5-year-old boy with global developmental delay, behavioral problems, pervasive developmental disorder not otherwise specified (PDD-NOS), staring spells, headaches, and paresthesias. Case 2 is a 14-year-old girl with seizures, cognitive and motor difficulties, and minor dysmorphic features. These two cases suggest that 1q32.1 region on distal arm of 1q and genes involved are critical to cognitive and motor development in a gene dosage sensitive manner and that other neurological features are variable within this syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.