Genetic insights into the functional elements of language

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Genetic insights into the functional elements of language is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1013983420
P356DOI10.1007/S00439-013-1317-0
P8608Fatcat IDrelease_wrdia74afjhovmumbfpwwmg6di
P698PubMed publication ID23749164

P2093author name stringKatalin Csiszar
Adam Szalontai
P2860cites workSNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations.Q51892056
The mouse forkhead gene Foxp2 modulates expression of the lung genes.Q51906258
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.Q52609884
Phenotype of FOXP2 haploinsufficiency in a mother and son.Q52618605
Speech and hearing in adults with 22q11.2 deletion syndrome.Q53133318
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.Q55375326
Molecular and clinical characterization of patients with overlapping 10p deletionsQ56535694
Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1geneQ56542513
Severity of hyperacusis predicts individual differences in speech perception in Williams SyndromeQ56884628
Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering caseQ57278449
Pediatric diagnosis not made until adulthood: A case of Wolf–Hirschhorn syndromeQ58449755
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic featuresQ58612571
Lexico-semantic processing in Williams syndromeQ82279891
Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heartQ83309413
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndromeQ83720347
Linkage disequilibrium extends across putative selected sites in FOXP2Q84241586
Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brainQ21144946
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Q21261497
Three Factors in Language DesignQ22065349
The Faculty of Language: What Is It, Who Has It, and How Did It Evolve?Q22065538
Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech developmentQ24294971
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaQ24297920
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentQ24303420
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneQ24305575
A functional genetic link between distinct developmental language disordersQ24312638
The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat.Q24324779
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficitsQ24530823
Genomewide significant linkage to stuttering on chromosome 12.Q24531471
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorderQ24538769
Rett syndrome: revised diagnostic criteria and nomenclatureQ24596295
A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.Q24596655
Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactionsQ24603791
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.Q24604419
Genetic Advances in the Study of Speech and Language DisordersQ24609855
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Q24612792
Genes, language, and the nature of scientific explanations: the case of Williams syndromeQ24625808
The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disordersQ24629522
DCDC2, KIAA0319 and CMIP are associated with reading-related traitsQ24631427
DCDC2 genetic variants and susceptibility to developmental dyslexiaQ24631569
Overlaps between autism and language impairment: phenomimicry or shared etiology?Q24632600
Alterations in white matter pathways in Angelman syndromeQ34686688
The phenotype of recurrent 10q22q23 deletions and duplicationsQ34694730
Genes expressed in specific areas of the human fetal cerebral cortex display distinct patterns of evolutionQ34698781
Abnormal language pathway in children with Angelman syndromeQ34786259
Relations among speech, language, and reading disordersQ34800205
Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian populationQ34886032
The language phenotype of children and adolescents with Noonan syndromeQ34911307
Handedness, language lateralisation and anatomical asymmetry: relevance of protocadherin XY to hominid speciation and the aetiology of psychosis. Point of viewQ34925078
Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesisQ35024168
CNTNAP2 variants affect early language development in the general populationQ35087702
Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvementQ35187186
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorderQ35286605
Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stutteringQ35562741
Fragile X syndrome: the GABAergic system and circuit dysfunctionQ35661582
Language and sociability: insights from Williams syndromeQ35680708
Meningeal defects alter the tangential migration of cortical interneurons in Foxc1hith/hith miceQ35779871
MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorderQ35823293
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in malesQ35834878
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.Q35923213
Evaluation of CNTNAP2 gene polymorphisms for exfoliation syndrome in JapaneseQ36015779
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.Q36017050
Children with Williams Syndrome: Language, Cognitive, and Behavioral Characteristics and their Implications for InterventionQ36059768
Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational familyQ36125741
Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) studyQ36132963
Social communication and theory of mind in boys with autism and fragile x syndromeQ36174847
Parent-of-origin effects of the serotonin transporter gene associated with autismQ36224018
A role for inherited metabolic deficits in persistent developmental stutteringQ36354165
Male carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encodingQ36355108
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.Q36404068
Toward epigenetic and gene regulation models of specific language impairment: looking for links among growth, genes, and impairmentsQ36499887
Cognitive, environmental, and linguistic predictors of syntax in fragile X syndrome and Down syndromeQ36595789
Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 SyndromeQ36600641
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.Q36648083
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5pQ36708035
A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.Q34464442
Genotype-phenotype correlation in 22q11.2 deletion syndromeQ34514307
Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.Q34540341
Accelerated evolution of Protocadherin11X/Y: a candidate gene-pair for cerebral asymmetry and languageQ34552125
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patientsQ34559423
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentQ34576300
Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophreniaQ24643955
Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brainQ24648621
Assessing the impact of FOXP1 mutations on developmental verbal dyspraxiaQ24649522
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaQ24672211
A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brainQ24673084
Developmental dyslexiaQ26992245
A forkhead-domain gene is mutated in a severe speech and language disorderQ28190379
FOXP2 as a molecular window into speech and languageQ28238901
22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delayQ28252698
Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutationQ28264333
MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolutionQ28273844
Challenging the use of adult neuropsychological models for explaining neurodevelopmental disorders: developed versus developing brainsQ28279730
Genetic basis of grammar defectQ28296793
FOXP2 and the neuroanatomy of speech and languageQ28305278
Nativism versus neuroconstructivism: rethinking the study of developmental disordersQ28308317
The histone methyltransferase MMSET regulates class switch recombinationQ28590053
The role of the FOXP family of transcription factors in ASDQ28662078
Connecting genes to brain in the autism spectrum disordersQ28705565
What does CNTNAP2 reveal about autism spectrum disorder?Q28708820
CNTNAP2 and language processing in healthy individuals as measured with ERPsQ28714875
The Modularity Issue in Language Acquisition: A Rapprochement? Comments on Gallistel and ChomskyQ28728341
Defining the genetic architecture of human developmental language impairmentQ28730469
Foxp2 mutations impair auditory-motor association learningQ28731446
Recent advances in the genetics of language impairmentQ28748712
The structure of innate vocalizations in Foxp2-deficient mouse pupsQ28750654
A critical and cell-autonomous role for MeCP2 in synaptic scaling upQ28941201
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeQ29544005
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutationsQ29614573
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficitsQ29618411
Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interactionQ29618801
FOXP2 and the role of cortico-basal ganglia circuits in speech and language evolutionQ30010939
Knockdown of FoxP2 alters spine density in Area X of the zebra finch.Q30010959
Oral and hand movement speeds are associated with expressive language ability in children with speech sound disorderQ30445322
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridizationQ30447724
Imaging and genetics of language and cognition in pediatric epilepsyQ30451278
Association betweenFOXP2gene and speech sound disorder in Chinese populationQ46182579
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordinationQ46295534
Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.Q46883278
Impact of chromosome 4p- syndrome on communication and expressive language skills: a preliminary investigationQ47393432
Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisationsQ48020989
Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognitionQ48165551
Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndromeQ48416759
Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure.Q48478617
Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profileQ48560612
Human ROBO1 regulates interaural interaction in auditory pathways.Q48701284
A theory of the origin of cerebral asymmetry: epigenetic variation superimposed on a fixed right-shiftQ48704248
When modularization fails to occur: a developmental perspectiveQ48765817
Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.Q48851799
Neuregulin 3 does not confer risk for schizophrenia and smooth pursuit eye movement abnormality in a Korean populationQ49043756
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two lociQ50302712
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.Q50306682
Language-association cortex asymmetry in autism and specific language impairmentQ50307443
The WNT2 gene polymorphism associated with speech delay inherent to autismQ50307485
Co-morbidity of autism and SLI: kinds, kin and complexityQ50312163
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.Q50312488
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.Q50485102
An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairmentQ50749282
Psycholinguistic abilities of children with Williams syndromeQ50773564
Neuropsychological profile of Italian children and adolescents with 22q11.2 deletion syndrome with and without intellectual disabilityQ50789313
Noonan syndrome: A case report.Q51847895
Angelman syndrome due to a novel splicing mutation of the UBE3A gene.Q51890699
Changing the perspective on early development of Rett syndromeQ36708337
Language abilities in Williams syndrome: a critical reviewQ36714549
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresQ36746454
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Q36809678
Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brainsQ36973275
CMIP and ATP2C2 modulate phonological short-term memory in language impairmentQ37301187
Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2Q37382846
Sexual differentiation of the brain in man and animals: of relevance to Klinefelter syndrome?Q37657514
Epilepsy and neurodevelopmental disorders of languageQ37835672
Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1.Q38016417
SHANK3 as an autism spectrum disorder-associated geneQ38023003
Copy number variations in neurodevelopmental disordersQ38027687
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Q38045465
Cancer genetics and genomics of human FOX family genesQ38047676
A review of the evidence for the canonical Wnt pathway in autism spectrum disordersQ38053503
Decoding the genetics of speech and languageQ38066309
How should children with speech sound disorders be classified? A review and critical evaluation of current classification systems.Q38073870
Mechanisms and therapeutic challenges in autism spectrum disorders: insights from Rett syndromeQ38085479
Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sampleQ38271952
Pathways to language: a naturalistic study of children with Williams syndrome and children with Down syndromeQ38428752
The development of metaphorical language comprehension in typical development and in Williams syndromeQ38487561
Definitions versus categorization: assessing the development of lexico-semantic knowledge in Williams syndrome.Q38490979
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathwaysQ39024652
Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteinsQ39265866
LRRTM2 interacts with Neurexin1 and regulates excitatory synapse formationQ39316804
Brief report: regression timing and associated features in MECP2 duplication syndromeQ39458224
A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosisQ39989202
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiencyQ41733111
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsyQ41933146
FOXG1 mutations in Japanese patients with the congenital variant of Rett syndromeQ41934633
Foxp-mediated suppression of N-cadherin regulates neuroepithelial character and progenitor maintenance in the CNS.Q42070765
Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.Q42145920
Gephyrin regulates GABAergic and glutamatergic synaptic transmission in hippocampal cell culturesQ42146712
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.Q42183498
Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations.Q42183499
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.Q42656337
Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp wavesQ42674561
A recent evolutionary change affects a regulatory element in the human FOXP2 geneQ42678844
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesQ42871027
Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.Q45926284
Neural correlates of phonological processing in speech sound disorder: a functional magnetic resonance imaging studyQ30462838
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotypeQ30477238
The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and languageQ30515982
Literacy outcomes of children with early childhood speech sound disorders: impact of endophenotypesQ30522146
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speechQ30529890
Human-specific transcriptional networks in the brainQ30539579
6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.Q30573531
The Evolution of LanguageQ33268692
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndromeQ33572334
Identification of candidate genes for dyslexia susceptibility on chromosome 18.Q33742226
Language Development in Individuals with Fragile X SyndromeQ33788960
Noonan syndrome: clinical aspects and molecular pathogenesisQ33806161
Developmental disorders of speech and language: from genes to brain structure and functionQ33871800
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesisQ33924011
Short-range and long-range guidance by slit and its Robo receptors. Robo and Robo2 play distinct roles in midline guidance.Q33932154
Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia.Q33957708
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficitsQ34024006
Accelerated recruitment of new brain development genes into the human genomeQ34058009
Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approachesQ34070958
Mutations in the lysosomal enzyme-targeting pathway and persistent stutteringQ34115067
Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic BehaviorQ34188749
Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature agesQ34211584
Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions.Q34248551
Convergent repression of Foxp2 3'UTR by miR-9 and miR-132 in embryonic mouse neocortex: implications for radial migration of neurons.Q34292894
Executive function in Williams and Down syndromesQ34297028
Localization of white matter volume increase in autism and developmental language disorderQ34309260
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizuresQ34328822
The genetics of reading disability in an often excluded sample: novel loci suggested for reading disability in Rolandic epilepsy.Q34345047
A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype CorrelationsQ34383677
Non-verbal cognitive development and language impairmentQ34401179
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersQ34401694
Association of the DYX1C1 dyslexia susceptibility gene with orthography in the Chinese populationQ34426756
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis SyndromeQ34428231
P433issue9
P304page(s)959-986
P577publication date2013-06-08
P1433published inHuman GeneticsQ5937167
P1476titleGenetic insights into the functional elements of language
P478volume132

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cites work (P2860)
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