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Language impairment with a microduplication in 1q42.3q43

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1 of the 91 references listed on this page is in the Retraction Watch database as retracted (export 2026-10-28): 10.1212/wnl.0000000000002551 (notice 2017-02-14).

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Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/ajmg.a.30142openalex-snapshot
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature
inferredcites →https://doi.org/10.1002/ajmg.a.36078openalex-snapshot
Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory
inferredcites →https://doi.org/10.1002/ajmg.b.30272openalex-snapshot
Evaluating the comparability of gene expression in blood and brain
inferredcites →https://doi.org/10.1002/ajmg.b.31062openalex-snapshot
Analysis of whole genome biomarker expression in blood and brain
inferredcites →https://doi.org/10.1002/ajmg.b.32427openalex-snapshot
Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature
inferredcites →https://doi.org/10.1002/ajmg.c.30299openalex-snapshot
Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review
inferredcites →https://doi.org/10.1002/humu.20500openalex-snapshot
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus
inferredcites →https://doi.org/10.1007/s00429-017-1450-yopenalex-snapshot
The role of the putamen in language: a meta-analytic connectivity modeling study
inferredcites →https://doi.org/10.1007/s12017-014-8338-2openalex-snapshot
ENT1 Inhibition Attenuates Epileptic Seizure Severity Via Regulation of Glutamatergic Neurotransmission
inferredcites →https://doi.org/10.1007/s12035-018-1030-zopenalex-snapshot
Adenosine Augmentation Evoked by an ENT1 Inhibitor Improves Memory Impairment and Neuronal Plasticity in the APP/PS1 Mouse Model of Alzheimer’s Disease
inferredcites →https://doi.org/10.1016/b978-0-444-63956-1.00011-4openalex-snapshot
Language and the cerebellum
inferredcites →https://doi.org/10.1016/b978-1-4557-2856-5.00095-9openalex-snapshot
Timothy Syndrome
inferredcites →https://doi.org/10.1016/bs.adgen.2016.08.003openalex-snapshot
Advances in Dyslexia Genetics—New Insights Into the Role of Brain Asymmetries
inferredcites →https://doi.org/10.1016/j.ajhg.2009.07.004openalex-snapshot
CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment
inferredcites →https://doi.org/10.1016/j.bbr.2011.05.023openalex-snapshot
Behavioral effects of elevated expression of human equilibrative nucleoside transporter 1 in mice
inferredcites →https://doi.org/10.1016/j.bbr.2019.03.032openalex-snapshot
Effects of Cacna1c haploinsufficiency on social interaction behavior and 50-kHz ultrasonic vocalizations in adult female rats
inferredcites →https://doi.org/10.1016/j.brainres.2006.11.074openalex-snapshot
The role of the basal ganglia and cerebellum in language processing
inferredcites →https://doi.org/10.1016/j.cell.2004.09.011openalex-snapshot
CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
inferredcites →https://doi.org/10.1016/j.celrep.2017.07.001openalex-snapshot
Cortical Interneurons Differentially Regulate the Effects of Acoustic Context
inferredcites →https://doi.org/10.1016/j.cortex.2009.02.010openalex-snapshot
Non-motor basal ganglia functions: A review and proposal for a model of sensory predictability in auditory language perception
inferredcites →https://doi.org/10.1016/j.ejmg.2020.103843openalex-snapshot
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers
inferredcites →https://doi.org/10.1016/j.febslet.2004.04.099openalex-snapshot
Interaction of filamin A with the integrin β7 cytoplasmic domain: role of alternative splicing and phosphorylation
inferredcites →https://doi.org/10.1016/j.gene.2016.08.042openalex-snapshot
A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33
inferredcites →https://doi.org/10.1016/j.jphs.2016.10.002openalex-snapshot
Human GRIN2B variants in neurodevelopmental disorders
inferredcites →https://doi.org/10.1016/j.nbd.2019.104486openalex-snapshot
The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice
inferredcites →https://doi.org/10.1016/j.neubiorev.2016.07.029openalex-snapshot
Language deficits in schizophrenia and autism as related oscillatory connectomopathies: An evolutionary account
inferredcites →https://doi.org/10.1016/j.neuint.2019.03.019openalex-snapshot
Increased REDD1 facilitates neuronal damage after subarachnoid hemorrhage
inferredcites →https://doi.org/10.1016/j.neuroimage.2009.09.028openalex-snapshot
Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals
inferredcites →https://doi.org/10.1016/j.neuroscience.2017.04.020openalex-snapshot
Wls expression in the rhombic lip orchestrates the embryonic development of the mouse cerebellum
inferredcites →https://doi.org/10.1016/j.pragma.2007.09.002openalex-snapshot
Grice's Cooperative Principle: Meaning and rationality
inferredcites →https://doi.org/10.1016/s0140-6736(12)62129-1openalex-snapshot
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
inferredcites →https://doi.org/10.1016/s0169-328x(00)00102-9openalex-snapshot
α-Actinin-2 in rat striatum: localization and interaction with NMDA glutamate receptor subunits
inferredcites →https://doi.org/10.1016/s0214-4603(88)75430-3openalex-snapshot
Registro fonológico inducido
inferredcites →https://doi.org/10.1016/s0896-6273(00)80651-0openalex-snapshot
Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia
inferredcites →https://doi.org/10.1038/414913aopenalex-snapshot
Gene defect in ectodermal dysplasia implicates a death domain adapter in development
inferredcites →https://doi.org/10.1038/jhg.2013.47openalex-snapshot
Family-based genome-wide copy number scan identifies five new genes of dyslexia involved in dendritic spinal plasticity
inferredcites →https://doi.org/10.1038/mp.2009.49openalex-snapshot
The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia
inferredcites →https://doi.org/10.1038/mp.2014.192openalex-snapshot
Inhibition of parvalbumin-expressing interneurons results in complex behavioral changes
inferredcites →https://doi.org/10.1038/mp.2017.133openalex-snapshot
Cross-disorder risk gene CACNA1C differentially modulates susceptibility to psychiatric disorders during development and adulthood
inferredcites →https://doi.org/10.1038/ng.209openalex-snapshot
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
inferredcites →https://doi.org/10.1038/ng.2726openalex-snapshot
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
inferredcites →https://doi.org/10.1038/ng.2727openalex-snapshot
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
inferredcites →https://doi.org/10.1038/nm.3513openalex-snapshot
REDD1 is essential for stress-induced synaptic loss and depressive behavior
inferredcites →https://doi.org/10.1038/npp.2010.193openalex-snapshot
Genome-Wide Pharmacogenomic Study of Neurocognition As an Indicator of Antipsychotic Treatment Response in Schizophrenia
inferredcites →https://doi.org/10.1038/npp.2016.271openalex-snapshot
Cacna1c in the Prefrontal Cortex Regulates Depression-Related Behaviors via REDD1
inferredcites →https://doi.org/10.1038/srep46105openalex-snapshot
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment
inferredcites →https://doi.org/10.1044/1092-4388(2009/08-0183)openalex-snapshot
Mean Length of Utterance Levels in 6-Month Intervals for Children 3 to 9 Years With and Without Language Impairments
inferredcites →https://doi.org/10.1080/08039488.2017.1291720openalex-snapshot
Elevated mRNA expression of CASPR3 in patients with schizophrenia
inferredcites →https://doi.org/10.1080/87565641.2017.1334783openalex-snapshot
Cerebellar Contributions to Language in Typical and Atypical Development: A Review
inferredcites →https://doi.org/10.1093/biostatistics/4.2.249openalex-snapshot
Exploration, normalization, and summaries of high density oligonucleotide array probe level data
inferredcites →https://doi.org/10.1093/nar/gku1003openalex-snapshot
STRING v10: protein–protein interaction networks, integrated over the tree of life
inferredcites →https://doi.org/10.1093/schbul/sby146openalex-snapshot
Genetic Variation in the Psychiatric Risk Gene CACNA1C Modulates Reversal Learning Across Species
inferredcites →https://doi.org/10.1097/moh.0b013e3282f2bcceopenalex-snapshot
Chediak-Higashi syndrome
inferredcites →https://doi.org/10.1097/ypg.0b013e328029826fopenalex-snapshot
MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia
inferredcites →https://doi.org/10.1097/ypg.0b013e3283413382openalex-snapshot
Case–case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes
inferredcites →https://doi.org/10.1111/acps.12073openalex-snapshot
TheCACNA1Crisk allele selectively impacts on executive function in bipolar type I disorder
inferredcites →https://doi.org/10.1111/jdv.15182openalex-snapshot
First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia
inferredcites →https://doi.org/10.1136/jmg.2007.055830openalex-snapshot
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
inferredcites →https://doi.org/10.1159/000443599openalex-snapshot
Partial 1q Duplications and Associated Phenotype
inferredcites →https://doi.org/10.1159/000485226openalex-snapshot
Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1
inferredcites →https://doi.org/10.1159/000493917openalex-snapshot
Regulation of the Expression of the Psychiatric Risk Gene Cacna1c during Associative Learning
inferredcites →https://doi.org/10.1162/coli.2000.26.4.657openalex-snapshot
The CHILDES Project: Tools for Analyzing Talk (third edition): Volume I: Transcription format and programs, Volume II: The database
inferredcites →https://doi.org/10.1163/9789004368811_003openalex-snapshot
Logic and Conversation
inferredcites →https://doi.org/10.1177/026565909601200308openalex-snapshot
CLAN (Computerized Language Analysis)
inferredcites →https://doi.org/10.1186/1744-9081-9-20openalex-snapshot
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
inferredcites →https://doi.org/10.1186/2193-9616-1-15openalex-snapshot
Comparison of gene expression profiles in the blood, hippocampus and prefrontal cortex of rats
inferredcites →https://doi.org/10.1186/s11689-016-9157-6openalex-snapshot
Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes
inferredcites →https://doi.org/10.1186/s12860-019-0208-1openalex-snapshot
Alternative splicing of the Wnt trafficking protein, Wntless and its effects on protein-protein interactions
inferredcites →https://doi.org/10.1186/s13041-016-0192-8openalex-snapshot
Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism
inferredcites →https://doi.org/10.1212/wnl.0000000000001228openalex-snapshot
GRIN2A
inferredcites →https://doi.org/10.1212/wnl.0000000000002551openalex-snapshot
Neurologic involvement in patients with atypical Chediak-Higashi disease
inferredcites →https://doi.org/10.1242/dmm.034116openalex-snapshot
Cacna1c haploinsufficiency leads to pro-social 50-kHz ultrasonic communication deficits in rats
inferredcites →https://doi.org/10.1371/journal.pgen.1008104openalex-snapshot
A meta-analysis of genome-wide association studies of epigenetic age acceleration
inferredcites →https://doi.org/10.1371/journal.pone.0101770openalex-snapshot
α-Actinin-2 Mediates Spine Morphology and Assembly of the Post-Synaptic Density in Hippocampal Neurons
inferredcites →https://doi.org/10.1371/journal.pone.0147887openalex-snapshot
Caspr3-Deficient Mice Exhibit Low Motor Learning during the Early Phase of the Accelerated Rotarod Task
inferredcites →https://doi.org/10.1371/journal.pone.0216155openalex-snapshot
Alleles associated with physical activity levels are estimated to be older than anatomically modern humans
inferredcites →https://doi.org/10.1523/jneurosci.3094-12.2013openalex-snapshot
Adenosine Transporter ENT1 Regulates the Acquisition of Goal-Directed Behavior and Ethanol Drinking through A2AReceptor in the Dorsomedial Striatum
inferredcites →https://doi.org/10.1523/jneurosci.4083-05.2006openalex-snapshot
Brain-Specific Regulator of G-Protein Signaling 9-2 Selectively Interacts with α-Actinin-2 to Regulate Calcium-Dependent Inactivation of NMDA Receptors
inferredcites →https://doi.org/10.1523/jneurosci.4517-09.2010openalex-snapshot
Neuroligin-1 Deletion Results in Impaired Spatial Memory and Increased Repetitive Behavior
inferredcites →https://doi.org/10.1534/g3.112.004689openalex-snapshot
A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder
inferredcites →https://doi.org/10.2307/324613openalex-snapshot
Syntax and Semantics Volume 3: Speech Acts
inferredcites →https://doi.org/10.2307/412243openalex-snapshot
A simplest systematics for the organization of turn-taking for conversation
inferredcites →https://doi.org/10.3389/fnhum.2016.00120openalex-snapshot
The Oscillopathic Nature of Language Deficits in Autism: From Genes to Language Evolution
inferredcites →https://doi.org/10.3389/fnhum.2016.00422openalex-snapshot
Bridging the Gap between Genes and Language Deficits in Schizophrenia: An Oscillopathic Approach
inferredcites →https://doi.org/10.3389/fpsyg.2014.00282openalex-snapshot
The shape of the human language-ready brain
inferredcites →https://doi.org/10.3389/fpsyg.2014.01324openalex-snapshot
Globularity and language-readiness: generating new predictions by expanding the set of genes of interest
inferredcites →https://doi.org/10.3389/fpsyg.2015.00794openalex-snapshot
Possible functional links among brain- and skull-related genes selected in modern humans
inferredcites →https://doi.org/10.3389/fpsyg.2017.02337openalex-snapshot
Explicit Oral Narrative Intervention for Students with Williams Syndrome
inferredcites →https://doi.org/10.3389/fpsyg.2018.01999openalex-snapshot
Toward the Language Oscillogenome
inferredcites →https://doi.org/10.35670/1667-4545.v4.n1.602openalex-snapshot
Test de Aptitud Verbal Buenos Aires
inferredcites →https://doi.org/10.7554/elife.34625openalex-snapshot
Motoneuron Wnts regulate neuromuscular junction development
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