| Item Type | Name |
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Concept
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Mutation
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Concept
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Germ-Line Mutation
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Concept
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Point Mutation
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Concept
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Mutation, Missense
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Concept
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Frameshift Mutation
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Academic Article
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Genetic and neuroradiological heterogeneity of double cortex syndrome.
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Academic Article
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Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
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Academic Article
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
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Academic Article
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Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
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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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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
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Academic Article
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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Academic Article
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Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
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Academic Article
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Association and mutation analyses of 16p11.2 autism candidate genes.
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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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A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
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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 analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
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Academic Article
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Polyalanine expansion of ARX associated with cryptogenic West syndrome.
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Academic Article
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The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
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Academic Article
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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
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Academic Article
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CDKL5 and ARX mutations in males with early-onset epilepsy.
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Academic Article
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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
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Academic Article
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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan.
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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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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
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Academic Article
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
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Academic Article
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The molecular landscape of ASPM mutations in primary microcephaly.
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Academic Article
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
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Academic Article
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
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Academic Article
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
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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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Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
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Academic Article
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Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
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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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PRKDC mutations in a SCID patient with profound neurological abnormalities.
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Academic Article
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Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
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Academic Article
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STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
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Academic Article
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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
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Academic Article
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WDR62 is associated with the spindle pole and is mutated in human microcephaly.
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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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Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
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Academic Article
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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
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Academic Article
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Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
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Academic Article
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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
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Academic Article
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Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
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Academic Article
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The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
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Academic Article
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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
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Academic Article
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Identification of genomic loci contributing to agenesis of the corpus callosum.
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Academic Article
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Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
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Academic Article
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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
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Academic Article
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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
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Academic Article
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
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Academic Article
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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
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Academic Article
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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
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Academic Article
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
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Academic Article
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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
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Academic Article
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Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
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Academic Article
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Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
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Academic Article
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X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
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Academic Article
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Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
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Academic Article
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Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
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Academic Article
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Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
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Academic Article
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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
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Academic Article
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Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
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Academic Article
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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
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Academic Article
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
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Academic Article
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Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
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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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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
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Academic Article
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Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
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Academic Article
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
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Academic Article
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Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
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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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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
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Academic Article
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A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
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Academic Article
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A developmental and genetic classification for malformations of cortical development.
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Academic Article
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Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
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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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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
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Academic Article
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
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Academic Article
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Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.
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Academic Article
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CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
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Academic Article
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LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
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Academic Article
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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
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Academic Article
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Cerebellar ataxia with progressive improvement.
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Academic Article
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COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
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Academic Article
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
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Academic Article
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
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Academic Article
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Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
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Academic Article
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De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
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Academic Article
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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
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Academic Article
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G protein-coupled receptor-dependent development of human frontal cortex.
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Academic Article
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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
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Academic Article
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Copy number and sequence variants implicate APBA2 as an autism candidate gene.
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Academic Article
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No major role for the EMX2 gene in schizencephaly.
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Academic Article
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The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
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Academic Article
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
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Academic Article
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Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
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Academic Article
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
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Academic Article
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Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
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Academic Article
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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
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Academic Article
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Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
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Academic Article
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The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
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Academic Article
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Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
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Academic Article
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
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Academic Article
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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
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Academic Article
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Epilepsy and outcome in FOXG1-related disorders.
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Academic Article
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
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Academic Article
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Malformations of cortical development: clinical features and genetic causes.
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Academic Article
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
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Academic Article
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High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
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Academic Article
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Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
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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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De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
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Academic Article
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
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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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RTTN mutations link primary cilia function to organization of the human cerebral cortex.
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Academic Article
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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
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Academic Article
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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
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Academic Article
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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
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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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A developmental and genetic classification for malformations of cortical development: update 2012.
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Academic Article
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Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
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Academic Article
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A novel SIX3 mutation segregates with holoprosencephaly in a large family.
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Academic Article
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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
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Academic Article
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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
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Academic Article
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
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Academic Article
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
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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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Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
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Academic Article
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.
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Academic Article
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Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".
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Academic Article
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
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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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Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
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Academic Article
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
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Academic Article
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
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Academic Article
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A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
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Academic Article
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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
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Academic Article
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Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
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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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Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
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Academic Article
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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
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Academic Article
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Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86".
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Academic Article
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
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Academic Article
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
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Academic Article
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Lissencephaly: Expanded imaging and clinical classification.
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Academic Article
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Human mutations in integrator complex subunits link transcriptome integrity to brain development.
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Academic Article
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
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Academic Article
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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
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Academic Article
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Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
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Academic Article
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Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
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Academic Article
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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
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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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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
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Academic Article
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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
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Academic Article
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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
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Academic Article
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
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Academic Article
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Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.
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Academic Article
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
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Academic Article
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
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Academic Article
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
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Academic Article
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Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
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Academic Article
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Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
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Academic Article
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Primary brain calcification: an international study reporting novel variants and associated phenotypes.
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Academic Article
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
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Academic Article
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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
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Academic Article
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Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
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Academic Article
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Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
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Academic Article
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Costello syndrome: Clinical phenotype, genotype, and management guidelines.
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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 Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
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Academic Article
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Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
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Academic Article
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Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.
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Academic Article
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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
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Academic Article
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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
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Academic Article
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SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
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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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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
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Academic Article
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
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Academic Article
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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
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Academic Article
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Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
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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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Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.
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Academic Article
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A dyadic approach to the delineation of diagnostic entities in clinical genomics.
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Academic Article
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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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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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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
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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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Lissencephaly: Update on diagnostics and clinical management.
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Academic Article
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ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development.
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Academic Article
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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
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Academic Article
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
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Academic Article
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
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Concept
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Loss of Function Mutation
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Concept
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Gain of Function Mutation
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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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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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Grant
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Mosaic: post-zygotic mutations in vascular malformations
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