| Item Type | Name |
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Concept
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Intellectual Disability
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Concept
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Mental Retardation, X-Linked
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Academic Article
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
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Academic Article
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Phenotypic spectrum associated with CASK loss-of-function mutations.
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Academic Article
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
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Academic Article
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Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
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Academic Article
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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
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Academic Article
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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
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Academic Article
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Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
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Academic Article
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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
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Academic Article
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LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
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Academic Article
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
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Academic Article
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Clinical manifestations and evaluation of isolated lissencephaly.
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Academic Article
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Microcephaly with simplified gyral pattern in six related children.
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Academic Article
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
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Academic Article
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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
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Academic Article
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Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.
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Academic Article
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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
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Academic Article
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
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Academic Article
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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
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Academic Article
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Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.
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Academic Article
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
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Academic Article
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Genotypically defined lissencephalies show distinct pathologies.
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Academic Article
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Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
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Academic Article
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Lissencephaly and other malformations of cortical development: 1995 update.
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Academic Article
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Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
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Academic Article
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Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
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Academic Article
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Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
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Academic Article
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Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
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Academic Article
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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
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Academic Article
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Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
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Academic Article
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Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
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Academic Article
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Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.
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Academic Article
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SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
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Academic Article
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Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.
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Academic Article
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
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Academic Article
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
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Academic Article
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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
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Academic Article
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Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
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Academic Article
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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
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Academic Article
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
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Academic Article
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Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
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Academic Article
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
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Academic Article
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
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Academic Article
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Duplication 2p16 is associated with perisylvian polymicrogyria.
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Academic Article
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
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Academic Article
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
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Academic Article
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Defining the phenotypical spectrum associated with variants in TUBB2A.
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Academic Article
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Genotype-phenotype correlation at codon 1740 of SETD2.
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Academic Article
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Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
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Academic Article
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
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Academic Article
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DLG4-related synaptopathy: a new rare brain disorder.
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Academic Article
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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
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Academic Article
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
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Academic Article
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Expanding the KIF4A-associated phenotype.
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Academic Article
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
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Academic Article
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
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Grant
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ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
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Grant
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LISSENCEPHALY--MOLECULAR BASIS OF NEURONAL MIGRATION
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Grant
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Megalencephaly and segmental brain overgrowth in humans
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Grant
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The genetic basis of Dandy-Walker and other mid-hindbrain malformations
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