scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1013983420 |
P356 | DOI | 10.1007/S00439-013-1317-0 |
P8608 | Fatcat ID | release_wrdia74afjhovmumbfpwwmg6di |
P698 | PubMed publication ID | 23749164 |
P2093 | author name string | Katalin Csiszar | |
Adam Szalontai | |||
P2860 | cites work | SNP 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 deletions | Q56535694 | ||
Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene | Q56542513 | ||
Severity of hyperacusis predicts individual differences in speech perception in Williams Syndrome | Q56884628 | ||
Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case | Q57278449 | ||
Pediatric diagnosis not made until adulthood: A case of Wolf–Hirschhorn syndrome | Q58449755 | ||
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features | Q58612571 | ||
Lexico-semantic processing in Williams syndrome | Q82279891 | ||
Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart | Q83309413 | ||
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome | Q83720347 | ||
Linkage disequilibrium extends across putative selected sites in FOXP2 | Q84241586 | ||
Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain | Q21144946 | ||
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 | Q21261497 | ||
Three Factors in Language Design | Q22065349 | ||
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 development | Q24294971 | ||
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia | Q24297920 | ||
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment | Q24303420 | ||
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene | Q24305575 | ||
A functional genetic link between distinct developmental language disorders | Q24312638 | ||
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 deficits | Q24530823 | ||
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 disorder | Q24538769 | ||
Rett syndrome: revised diagnostic criteria and nomenclature | Q24596295 | ||
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 interactions | Q24603791 | ||
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. | Q24604419 | ||
Genetic Advances in the Study of Speech and Language Disorders | Q24609855 | ||
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome) | Q24612792 | ||
Genes, language, and the nature of scientific explanations: the case of Williams syndrome | Q24625808 | ||
The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders | Q24629522 | ||
DCDC2, KIAA0319 and CMIP are associated with reading-related traits | Q24631427 | ||
DCDC2 genetic variants and susceptibility to developmental dyslexia | Q24631569 | ||
Overlaps between autism and language impairment: phenomimicry or shared etiology? | Q24632600 | ||
Alterations in white matter pathways in Angelman syndrome | Q34686688 | ||
The phenotype of recurrent 10q22q23 deletions and duplications | Q34694730 | ||
Genes expressed in specific areas of the human fetal cerebral cortex display distinct patterns of evolution | Q34698781 | ||
Abnormal language pathway in children with Angelman syndrome | Q34786259 | ||
Relations among speech, language, and reading disorders | Q34800205 | ||
Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population | Q34886032 | ||
The language phenotype of children and adolescents with Noonan syndrome | Q34911307 | ||
Handedness, language lateralisation and anatomical asymmetry: relevance of protocadherin XY to hominid speciation and the aetiology of psychosis. Point of view | Q34925078 | ||
Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesis | Q35024168 | ||
CNTNAP2 variants affect early language development in the general population | Q35087702 | ||
Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement | Q35187186 | ||
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder | Q35286605 | ||
Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering | Q35562741 | ||
Fragile X syndrome: the GABAergic system and circuit dysfunction | Q35661582 | ||
Language and sociability: insights from Williams syndrome | Q35680708 | ||
Meningeal defects alter the tangential migration of cortical interneurons in Foxc1hith/hith mice | Q35779871 | ||
MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder | Q35823293 | ||
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males | Q35834878 | ||
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. | Q35923213 | ||
Evaluation of CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese | Q36015779 | ||
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 Intervention | Q36059768 | ||
Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family | Q36125741 | ||
Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study | Q36132963 | ||
Social communication and theory of mind in boys with autism and fragile x syndrome | Q36174847 | ||
Parent-of-origin effects of the serotonin transporter gene associated with autism | Q36224018 | ||
A role for inherited metabolic deficits in persistent developmental stuttering | Q36354165 | ||
Male carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encoding | Q36355108 | ||
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 impairments | Q36499887 | ||
Cognitive, environmental, and linguistic predictors of syntax in fragile X syndrome and Down syndrome | Q36595789 | ||
Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome | Q36600641 | ||
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-483-5p | Q36708035 | ||
A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. | Q34464442 | ||
Genotype-phenotype correlation in 22q11.2 deletion syndrome | Q34514307 | ||
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 language | Q34552125 | ||
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients | Q34559423 | ||
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment | Q34576300 | ||
Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia | Q24643955 | ||
Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain | Q24648621 | ||
Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia | Q24649522 | ||
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia | Q24672211 | ||
A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain | Q24673084 | ||
Developmental dyslexia | Q26992245 | ||
A forkhead-domain gene is mutated in a severe speech and language disorder | Q28190379 | ||
FOXP2 as a molecular window into speech and language | Q28238901 | ||
22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay | Q28252698 | ||
Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation | Q28264333 | ||
MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution | Q28273844 | ||
Challenging the use of adult neuropsychological models for explaining neurodevelopmental disorders: developed versus developing brains | Q28279730 | ||
Genetic basis of grammar defect | Q28296793 | ||
FOXP2 and the neuroanatomy of speech and language | Q28305278 | ||
Nativism versus neuroconstructivism: rethinking the study of developmental disorders | Q28308317 | ||
The histone methyltransferase MMSET regulates class switch recombination | Q28590053 | ||
The role of the FOXP family of transcription factors in ASD | Q28662078 | ||
Connecting genes to brain in the autism spectrum disorders | Q28705565 | ||
What does CNTNAP2 reveal about autism spectrum disorder? | Q28708820 | ||
CNTNAP2 and language processing in healthy individuals as measured with ERPs | Q28714875 | ||
The Modularity Issue in Language Acquisition: A Rapprochement? Comments on Gallistel and Chomsky | Q28728341 | ||
Defining the genetic architecture of human developmental language impairment | Q28730469 | ||
Foxp2 mutations impair auditory-motor association learning | Q28731446 | ||
Recent advances in the genetics of language impairment | Q28748712 | ||
The structure of innate vocalizations in Foxp2-deficient mouse pups | Q28750654 | ||
A critical and cell-autonomous role for MeCP2 in synaptic scaling up | Q28941201 | ||
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size | Q29544005 | ||
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations | Q29614573 | ||
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits | Q29618411 | ||
Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction | Q29618801 | ||
FOXP2 and the role of cortico-basal ganglia circuits in speech and language evolution | Q30010939 | ||
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 disorder | Q30445322 | ||
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization | Q30447724 | ||
Imaging and genetics of language and cognition in pediatric epilepsy | Q30451278 | ||
Association betweenFOXP2gene and speech sound disorder in Chinese population | Q46182579 | ||
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination | Q46295534 | ||
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 investigation | Q47393432 | ||
Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations | Q48020989 | ||
Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition | Q48165551 | ||
Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome | Q48416759 | ||
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 profile | Q48560612 | ||
Human ROBO1 regulates interaural interaction in auditory pathways. | Q48701284 | ||
A theory of the origin of cerebral asymmetry: epigenetic variation superimposed on a fixed right-shift | Q48704248 | ||
When modularization fails to occur: a developmental perspective | Q48765817 | ||
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 population | Q49043756 | ||
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci | Q50302712 | ||
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 impairment | Q50307443 | ||
The WNT2 gene polymorphism associated with speech delay inherent to autism | Q50307485 | ||
Co-morbidity of autism and SLI: kinds, kin and complexity | Q50312163 | ||
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 impairment | Q50749282 | ||
Psycholinguistic abilities of children with Williams syndrome | Q50773564 | ||
Neuropsychological profile of Italian children and adolescents with 22q11.2 deletion syndrome with and without intellectual disability | Q50789313 | ||
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 syndrome | Q36708337 | ||
Language abilities in Williams syndrome: a critical review | Q36714549 | ||
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features | Q36746454 | ||
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 brains | Q36973275 | ||
CMIP and ATP2C2 modulate phonological short-term memory in language impairment | Q37301187 | ||
Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2 | Q37382846 | ||
Sexual differentiation of the brain in man and animals: of relevance to Klinefelter syndrome? | Q37657514 | ||
Epilepsy and neurodevelopmental disorders of language | Q37835672 | ||
Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1. | Q38016417 | ||
SHANK3 as an autism spectrum disorder-associated gene | Q38023003 | ||
Copy number variations in neurodevelopmental disorders | Q38027687 | ||
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. | Q38045465 | ||
Cancer genetics and genomics of human FOX family genes | Q38047676 | ||
A review of the evidence for the canonical Wnt pathway in autism spectrum disorders | Q38053503 | ||
Decoding the genetics of speech and language | Q38066309 | ||
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 syndrome | Q38085479 | ||
Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample | Q38271952 | ||
Pathways to language: a naturalistic study of children with Williams syndrome and children with Down syndrome | Q38428752 | ||
The development of metaphorical language comprehension in typical development and in Williams syndrome | Q38487561 | ||
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 pathways | Q39024652 | ||
Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins | Q39265866 | ||
LRRTM2 interacts with Neurexin1 and regulates excitatory synapse formation | Q39316804 | ||
Brief report: regression timing and associated features in MECP2 duplication syndrome | Q39458224 | ||
A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis | Q39989202 | ||
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency | Q41733111 | ||
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy | Q41933146 | ||
FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome | Q41934633 | ||
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 cultures | Q42146712 | ||
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 waves | Q42674561 | ||
A recent evolutionary change affects a regulatory element in the human FOXP2 gene | Q42678844 | ||
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes | Q42871027 | ||
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 study | Q30462838 | ||
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype | Q30477238 | ||
The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language | Q30515982 | ||
Literacy outcomes of children with early childhood speech sound disorders: impact of endophenotypes | Q30522146 | ||
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech | Q30529890 | ||
Human-specific transcriptional networks in the brain | Q30539579 | ||
6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder. | Q30573531 | ||
The Evolution of Language | Q33268692 | ||
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome | Q33572334 | ||
Identification of candidate genes for dyslexia susceptibility on chromosome 18. | Q33742226 | ||
Language Development in Individuals with Fragile X Syndrome | Q33788960 | ||
Noonan syndrome: clinical aspects and molecular pathogenesis | Q33806161 | ||
Developmental disorders of speech and language: from genes to brain structure and function | Q33871800 | ||
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis | Q33924011 | ||
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 deficits | Q34024006 | ||
Accelerated recruitment of new brain development genes into the human genome | Q34058009 | ||
Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches | Q34070958 | ||
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering | Q34115067 | ||
Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior | Q34188749 | ||
Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages | Q34211584 | ||
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 syndromes | Q34297028 | ||
Localization of white matter volume increase in autism and developmental language disorder | Q34309260 | ||
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures | Q34328822 | ||
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 Correlations | Q34383677 | ||
Non-verbal cognitive development and language impairment | Q34401179 | ||
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders | Q34401694 | ||
Association of the DYX1C1 dyslexia susceptibility gene with orthography in the Chinese population | Q34426756 | ||
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome | Q34428231 | ||
P433 | issue | 9 | |
P304 | page(s) | 959-986 | |
P577 | publication date | 2013-06-08 | |
P1433 | published in | Human Genetics | Q5937167 |
P1476 | title | Genetic insights into the functional elements of language | |
P478 | volume | 132 |
Q58227223 | Language Disorders and Language Evolution: Constraints on Hypotheses |
Q41152831 | Modification of spectral features by nonhuman primates |
Q38133570 | Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation |
Q33737853 | The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders. |
Q30364642 | The genetic basis of music ability |
Q48410212 | The sound of one hand clapping: overdetermination and the pansensory nature of communication |
Search more.