Item Type | Name |
Concept
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Chromosomes, Human, Pair 11
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Concept
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Chromosomes, Human, Pair 2
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Concept
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Chromosomes, Human, Pair 6
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Concept
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Chromosomes, Human, Pair 1
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Concept
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Chromosomes, Human, Pair 15
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Concept
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Chromosomes, Human, Pair 21
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Concept
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Chromosomes, Human, Pair 3
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Concept
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Chromosomes, Human, Pair 14
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Concept
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Chromosomes, Human, 6-12 and X
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Concept
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Chromosomes, Human, Pair 22
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Concept
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Chromosomes, Human, Pair 4
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Concept
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Chromosomes, Human, Pair 5
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Concept
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Chromosomes, Human, Pair 7
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Concept
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Chromosomes, Human, 16-18
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Concept
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Chromosomes, Human, Pair 10
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Concept
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Chromosomes, Human, Pair 17
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Concept
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Chromosomes, Human, Pair 19
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Concept
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Chromosomes, Human, Pair 9
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Concept
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Humans
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Concept
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Genome, Human
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Concept
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Chromosomes, Human, Pair 16
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Concept
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Chromosomes, Human, X
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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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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
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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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Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
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Academic Article
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Recurrent 16p11.2 microdeletions in autism.
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Academic Article
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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
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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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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
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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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Genetic links between brain development and brain evolution.
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Academic Article
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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
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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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New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
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Academic Article
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Epilepsy and malformations of the cerebral cortex.
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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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Further comments on the lissencephaly syndromes.
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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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Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
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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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Clinical and molecular diagnosis of Miller-Dieker syndrome.
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Academic Article
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Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.
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Academic Article
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Familial hydrocephalus with normal cognition and distinctive radiological features.
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Academic Article
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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
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Academic Article
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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
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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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Unsuccessful physostigmine therapy in Reye syndrome.
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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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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
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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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Benign hereditary chorea.
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Academic Article
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Cortical dysplasias, genetics, and epileptogenesis.
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Academic Article
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
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Academic Article
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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
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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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Classical lissencephaly syndromes: does the face reflect the brain?
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Academic Article
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Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
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Academic Article
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Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
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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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Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
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Academic Article
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Interneuron deficits in patients with the Miller-Dieker syndrome.
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Academic Article
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Developmental aspects of lissencephaly and the lissencephaly syndromes.
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Academic Article
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
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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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Familial pericentric and paracentric inversions of chromosome 1.
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Academic Article
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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
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Academic Article
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Idiopathic intracranial hypertension and facial diplegia.
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Academic Article
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Flores hominid: new species or microcephalic dwarf?
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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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Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
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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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Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
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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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Clinical spectrum of Wilson's disease (hepatolenticular degeneration).
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Academic Article
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Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
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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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Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
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Academic Article
|
Microcephaly with simplified gyral pattern in six related children.
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Academic Article
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Truncation of NHEJ1 in a patient with polymicrogyria.
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Academic Article
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Clinical and brain imaging heterogeneity of severe microcephaly.
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Academic Article
|
Familial remitting chorea, nystagmus, and cataracts.
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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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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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Ultra-high-field MR imaging in polymicrogyria and epilepsy.
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Academic Article
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Familial cavernous malformations of the central nervous system and retina.
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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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Genetic and biologic classification of infantile spasms.
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Academic Article
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Primary microcephaly: new approaches for an old disorder.
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Academic Article
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Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
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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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Computed tomographic appearance of lissencephaly syndromes.
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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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Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
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Academic Article
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PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
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Academic Article
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Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
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Academic Article
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Antibodies to ACTH in opsoclonus-myoclonus.
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Academic Article
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Rapid-onset dystonia-parkinsonism.
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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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Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
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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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Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
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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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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
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Academic Article
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Clinical nosologic and genetic aspects of Joubert and related syndromes.
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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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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
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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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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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X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.
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Academic Article
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A classification scheme for malformations of cortical development.
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Academic Article
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Absence makes the search grow longer.
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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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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
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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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Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence.
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Academic Article
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Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
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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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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
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Academic Article
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Rapid onset dystonia-parkinsonism in a 14-year-old girl.
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Academic Article
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Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
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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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Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.
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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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Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
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Academic Article
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Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
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Academic Article
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The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome.
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Academic Article
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A developmental classification of malformations of the brainstem.
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Academic Article
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Causal heterogeneity in isolated lissencephaly.
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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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Congenital muscular dystrophies: clinical review and proposed classification.
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Academic Article
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Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
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Academic Article
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Cobblestone lissencephaly with normal eyes and muscle.
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Academic Article
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Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
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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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Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
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Academic Article
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Periventricular nodular heterotopia with overlying polymicrogyria.
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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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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
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Academic Article
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Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
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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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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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Rapid-onset dystonia-parkinsonism in a second family.
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Academic Article
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Expanding CEP290 mutational spectrum in ciliopathies.
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Academic Article
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Plasmapheresis with acute inflammatory polyneuropathy.
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Academic Article
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Variable phenotype of rapid-onset dystonia-parkinsonism.
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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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X-linked malformations of neuronal migration.
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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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14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
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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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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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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
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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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Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
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Academic Article
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Polio vaccine and BGS.
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Academic Article
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Radiologic classification of malformations of cortical development.
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Academic Article
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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
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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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Neuropathology of brain and spinal malformations in a case of monosomy 1p36.
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Academic Article
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Autosomal dominant torsion dystonia with onset in infancy.
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Academic Article
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Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
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Academic Article
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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Academic Article
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Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
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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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Miller-Dieker syndrome: lissencephaly and monosomy 17p.
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Academic Article
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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
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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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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
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Academic Article
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Brain anomalies in encephalocraniocutaneous lipomatosis.
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Academic Article
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Polymicrogyria and motor neuropathy in Micro syndrome.
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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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Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
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Academic Article
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Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
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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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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
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Academic Article
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Toriello-Carey syndrome: delineation and review.
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Academic Article
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Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
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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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Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
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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
|
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
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Academic Article
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Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
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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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Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
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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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Valproate-induced liver failure in one of two siblings with Alpers disease.
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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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A developmental and genetic classification for midbrain-hindbrain malformations.
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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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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
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Academic Article
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The neurogenetics of lissencephaly.
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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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Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
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Academic Article
|
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
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Academic Article
|
Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
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Academic Article
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Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
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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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Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
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Academic Article
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Copy number variation analysis in 98 individuals with PHACE syndrome.
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Academic Article
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Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
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Academic Article
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The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
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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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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
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Academic Article
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Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
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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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New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
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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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Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
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Academic Article
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A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
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Academic Article
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Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
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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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The microcephaly-capillary malformation syndrome.
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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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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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Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Haemophilus influenzae type b conjugate vaccine.
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Academic Article
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LIS1: from cortical malformation to essential protein of cellular dynamics.
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Academic Article
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Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
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Academic Article
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Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
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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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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
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Academic Article
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Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
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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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Comment on "The Brain of LB1, Homo floresiensis".
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Academic Article
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Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
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Academic Article
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The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.
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Academic Article
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Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia.
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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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A locus for bilateral perisylvian polymicrogyria maps to Xq28.
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Academic Article
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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
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Academic Article
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Malformations of cortical development and epilepsy.
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Academic Article
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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
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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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Microlissencephaly: a heterogeneous malformation of cortical development.
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Academic Article
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Infantile hydrocephalus: a review of epidemiology, classification and causes.
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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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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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MICRO syndrome: an entity distinct from COFS syndrome.
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Academic Article
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Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
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Academic Article
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Lissencephaly and the molecular basis of neuronal migration.
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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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Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
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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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Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
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Academic Article
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Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
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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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Isolated lissencephaly: report of four patients from two unrelated families.
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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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Diagnostic criteria for Walker-Warburg syndrome.
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Academic Article
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X-linked malformations of cortical development.
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Academic Article
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Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
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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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Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.
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Academic Article
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Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.
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Academic Article
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Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
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Academic Article
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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Academic Article
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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
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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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Childhood stroke and lupus anticoagulant.
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Academic Article
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Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91)
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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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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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Vascular abnormalities in epidermal nevus syndrome.
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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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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
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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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Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity.
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Academic Article
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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
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Academic Article
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Malformations of cortical development and epilepsy.
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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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Progress in autism and related disorders of brain development.
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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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Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.
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Academic Article
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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
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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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Consensus Paper: Cerebellar Development.
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Academic Article
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Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.
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Academic Article
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Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
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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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Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
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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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Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.
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Academic Article
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Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
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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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Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
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Academic Article
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Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.
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Academic Article
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Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.
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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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Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain.
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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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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
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Academic Article
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Early-Life Epilepsies and the Emerging Role of Genetic Testing.
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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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Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.
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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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The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia.
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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 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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Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
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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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An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.
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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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Redefining the Etiologic Landscape of Cerebellar Malformations.
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Academic Article
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Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.
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Academic Article
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
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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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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
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Academic Article
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Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.
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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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Duplication 2p16 is associated with perisylvian polymicrogyria.
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Academic Article
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Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain.
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Academic Article
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Approach to overgrowth syndromes in the genome era.
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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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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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Reply to Hsueh YP et al.
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Academic Article
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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
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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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Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
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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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Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
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Academic Article
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International consensus recommendations on the diagnostic work-up for malformations of cortical development.
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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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The spectrum of brain malformations and disruptions in twins.
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Academic Article
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Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020).
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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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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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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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Spatial and cell type transcriptional landscape of human cerebellar development.
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Academic Article
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The Names of Things: The 2018 Bernard Sachs Lecture.
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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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Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.
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Academic Article
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Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
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Academic Article
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NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
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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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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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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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Academic Article
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
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Academic Article
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
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Academic Article
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
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Academic Article
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TMEM161B modulates radial glial scaffolding in neocortical development.
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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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Academic Article
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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
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